Materiały źródłowe

• #1 Autosomal Dominant Polycystic Kidney Disease: From Pathophysiology of Cystogenesis to Advances in the Treatment

  https://www.mdpi.com/1422-0067/23/6/3317

  Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic renal disease, with an estimated prevalence between 1:1000 and 1:2500. It is mostly caused by mutations of the PKD1 and PKD2 genes encoding polycystin 1 (PC1) and polycystin 2 (PC2) that regulate cellular processes such as fluid transport, differentiation, proliferation, apoptosis and cell adhesion. […] In most cases, ADPKD is caused by mutations in 2 genes: PKD1 (16p13.3) and PKD2 (4q22.1). The germline mutations in PKD1 gene are present in about 80% of the ADPKD patients, mutations in PKD2 gene in the remaining 15% of ADPKD patients. […] The typical manifestation of ADPKD is the formation of renal cysts. Cysts are formed in about 1% to 3% of nephrons. […] The cyst development and enlargement include numerous cellular changes. The resulting changes in polycystin expression cause the damage of several intracellular signaling pathways terminating in the development of cysts due to cell proliferation and fluid secretion.

• #2 Polycystic kidney disease – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/polycystic-kidney-disease/symptoms-causes/syc-20352820

  Polycystic kidney disease (PKD) is a condition in which clusters of cysts grow in the body, mainly in the kidneys. Over time, the cysts may cause the kidneys to get bigger and stop working. PKD is most often passed through families. This is called an inherited condition. […] Gene changes cause polycystic kidney disease. Most often, the condition runs in families. Sometimes, a gene change happens on its own in a child. This is known as a spontaneous gene change. Then neither parent has a copy of the changed gene. […] There are two main types of polycystic kidney disease. They’re caused by different gene changes. The two types of PKD are: […] Autosomal dominant polycystic kidney disease (ADPKD). This is the most common type of ongoing kidney disease that’s passed through families, also called inherited. Symptoms of ADPKD often start between the ages of 30 and 40.

• #3 Autosomal Dominant Polycystic Kidney Disease (ADPKD) – Genitourinary Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/genitourinary-disorders/cystic-kidney-disease/autosomal-dominant-polycystic-kidney-disease-adpkd

  Inheritance of polycystic kidney disease (PKD) is Autosomal dominant. Autosomal dominant polycystic kidney disease (ADPKD) has an incidence of 1/1000 and accounts for about 5% of patients with end-stage kidney disease (ESKD) requiring renal replacement therapy. In most cases, ADPKD is caused by mutations in the PKD1 gene on chromosome 16, which codes for the protein polycystin 1; most other cases are caused by mutations in the PKD2 gene on chromosome 4, which codes for polycystin 2. […] A few familial cases are unrelated to either locus.

• #4 Autosomal Dominant Polycystic Kidney Disease: From Pathophysiology of Cystogenesis to Advances in the Treatment

  https://www.mdpi.com/1422-0067/23/6/3317

  Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic renal disease, with an estimated prevalence between 1:1000 and 1:2500. It is mostly caused by mutations of the PKD1 and PKD2 genes encoding polycystin 1 (PC1) and polycystin 2 (PC2) that regulate cellular processes such as fluid transport, differentiation, proliferation, apoptosis and cell adhesion. […] In most cases, ADPKD is caused by mutations in 2 genes: PKD1 (16p13.3) and PKD2 (4q22.1). The germline mutations in PKD1 gene are present in about 80% of the ADPKD patients, mutations in PKD2 gene in the remaining 15% of ADPKD patients. […] The typical manifestation of ADPKD is the formation of renal cysts. Cysts are formed in about 1% to 3% of nephrons. […] The cyst development and enlargement include numerous cellular changes. The resulting changes in polycystin expression cause the damage of several intracellular signaling pathways terminating in the development of cysts due to cell proliferation and fluid secretion.

• #5 Polycystic Kidney Disease: Types, Causes and Treatment

  https://patient.info/kidney-urinary-tract/chronic-kidney-disease-leaflet/polycystic-kidney-disease

  The medical term for reduced kidney function is chronic kidney disease (CKD). CKD means that your kidneys are damaged. […] Various conditions can cause CKD, including ADPKD. […] About half of people with ADPKD have developed stage 5 CKD (end-stage kidney disease) by the age of 60, with about 6 in 10 developing it by age 70. […] Having ADPKD greatly increases the chance that high blood pressure will develop. […] The kidneys play a vital role in controlling blood pressure.

• #6 Autosomal Dominant Polycystic Kidney Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK532934/

  ADPKD involves mutations in various genes, two of which are identified. PKD1 (chromosome 16p13.3) accounts for 85% of ADPKD cases, and PKD2 (4q21) contributes 15%. […] Mutations in GANAB are thought to contribute to 1% of ADPKD patients with more variable polycystic liver disease. […] Mutations in the PKD1 and PKD2 genes express similar phenotypes. In the PKD1 form, about 50% of patients need renal replacement therapy by 60 years. PKD2 mutations are seen in older individuals and present with a milder disease with fewer renal cysts, late-onset hypertension, and less end-stage kidney disease (ESKD) than PKD1.

• #7 Polycystic Kidney Disease: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/244907-overview

  ADPKD is a hereditary disorder with an autosomal dominant pattern of inheritance. The disorder occurs equally in males and females. Each offspring of an affected person has a 50% chance of inheriting the genetic variant responsible for the disease. […] ADPKD is a genetically heterogeneous condition that involves at least 2 genes. PKD1 is located on chromosome 16p13.3 and accounts for most ADPKD cases. PKD2 is located on chromosome 4q21-q22 and accounts for up to 15% of ADPKD cases. Other genes identified as rare causes of ADPKD include GANAB, ALG9, DNAJB11, and LRP5. […] The genetic heterogeneity of ADKPD, and the possible contribution of modifier genes, may explain the wide clinical variability in this disease, both within and among families.

• #8

  https://www.nhs.uk/conditions/autosomal-dominant-polycystic-kidney-disease-adpkd/

  Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small fluid-filled sacs called cysts to develop in the kidneys. […] ADPKD is caused by a genetic fault that disrupts the normal development of some of the cells in the kidneys and causes cysts to grow. […] Faults in 1 of 2 different genes are known to cause ADPKD. […] The affected genes are: PKD1, which accounts for around 78% of cases; PKD2, which accounts for around 15% of cases. […] A child has a 1 in 2 (50%) chance of developing ADPKD if one of their parents has the faulty PKD1 or PKD2 gene. […] In up to 1 in 4 (25%) cases, a person develops ADPKD without having a known family history of the condition. […] In around 1 in 10 cases of ADPKD, the mutation develops for the first time in the affected person. It’s not known what causes this to happen.

• #9 What causes ADPKD? – Polycystic kidney disease | PKD treatment research | PKD Foundation

  https://pkdcure.org/about-the-disease/adpkd/what-causes-adpkd/

  Mutations (unintended changes or typos) in one of two genes (PKD1 or PKD2) account for most cases of ADPKD. Recently, researchers discovered a new gene, GANAB, thats believed to cause polycystic liver and kidney disease as well. Mutations of the first gene, PKD1, are the most common and account for about 85% of ADPKD patients. However, in about 7% of patients, its not possible to determine which gene mutation is causing the disease. […] The PKD1 and PKD2 genes encode the proteins polycystin-1 and polycystin-2, respectively. These two proteins interact to regulate cells in the kidneys and liver, play a role in forming tubular structures, and influence growth and fluid secretion function. Mutations of the PKD1 or PKD2 gene create cells with abnormal functions and ultimately result in the cyst growth common in ADPKD.

• #10

  https://www.nhs.uk/conditions/autosomal-dominant-polycystic-kidney-disease-adpkd/

  Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small fluid-filled sacs called cysts to develop in the kidneys. […] ADPKD is caused by a genetic fault that disrupts the normal development of some of the cells in the kidneys and causes cysts to grow. […] Faults in 1 of 2 different genes are known to cause ADPKD. […] The affected genes are: PKD1, which accounts for around 78% of cases; PKD2, which accounts for around 15% of cases. […] A child has a 1 in 2 (50%) chance of developing ADPKD if one of their parents has the faulty PKD1 or PKD2 gene. […] In up to 1 in 4 (25%) cases, a person develops ADPKD without having a known family history of the condition. […] In around 1 in 10 cases of ADPKD, the mutation develops for the first time in the affected person. It’s not known what causes this to happen.

• #11 Autosomal dominant polycystic kidney disease (ADPKD) in adults: Epidemiology, clinical presentation, and diagnosis – UpToDate

  https://www.uptodate.com/contents/autosomal-dominant-polycystic-kidney-disease-adpkd-in-adults-epidemiology-clinical-presentation-and-diagnosis

  Autosomal dominant polycystic kidney disease (ADPKD) is a common disorder, occurring in approximately 1 in 1000 live births. Approximately 78 percent of families with ADPKD have an abnormality on chromosome 16 (PKD1 locus). Most of the remaining families (14 percent) have a different defect that involves a gene on chromosome 4 (the PKD2 locus), while a minority of families have a defect in the GANAB gene, encoding the glucosidase II alpha subunit, or the DNAJB11 gene. […] ADPKD is predominantly caused by mutations in one of two genes: PKD1 (which encodes polycystin-1) on chromosome 16 and PKD2 (which encodes polycystin-2) on chromosome 4. […] Risk factors that have been identified for progressive kidney disease in ADPKD include genetic factors – the causative gene mutation is the major factor that determines the rate of progression among individual patients.

• #12 Autosomal Dominant Polycystic Kidney Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK532934/

  ADPKD involves mutations in various genes, two of which are identified. PKD1 (chromosome 16p13.3) accounts for 85% of ADPKD cases, and PKD2 (4q21) contributes 15%. […] Mutations in GANAB are thought to contribute to 1% of ADPKD patients with more variable polycystic liver disease. […] Mutations in the PKD1 and PKD2 genes express similar phenotypes. In the PKD1 form, about 50% of patients need renal replacement therapy by 60 years. PKD2 mutations are seen in older individuals and present with a milder disease with fewer renal cysts, late-onset hypertension, and less end-stage kidney disease (ESKD) than PKD1.

• #13 Autosomal Dominant Polycystic Kidney Disease | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/27399

  ADPKD involves mutations in various genes, two of which are identified. PKD1 (chromosome 16p13.3) accounts for 85% of ADPKD cases, and PKD2 (4q21) contributes 15%. […] Mutations in GANAB are thought to contribute to 1% of ADPKD patients with more variable polycystic liver disease. […] Mutations in the PKD1 and PKD2 genes express similar phenotypes. In the PKD1 form, about 50% of patients need renal replacement therapy by 60 years. PKD2 mutations are seen in older individuals and present with a milder disease with fewer renal cysts, late-onset hypertension, and less end-stage kidney disease (ESKD) than PKD1. […] Eighty-five percent of patients with ADPKD have PKD1 mutations, 15% have the PKD2 gene mutation, and about 1% have GANAB gene mutations. Other mutations leading to PKD are unidentified, and 10% to 15% of patients with ADPKD have no known family history, suggesting a high de novo mutation rate. […] PKD1 and PKD2 mutations have the same phenotype, but patients with PKD2 have a milder disease with fewer renal cysts, later onset of hypertension, and less ESKD than patients with PKD1. Patients with GANAB mutations also have a milder phenotype than PKD1 but have more associated hepatic disease.

• #14 Polycystic Kidney Disease: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/244907-overview

  ADPKD is a hereditary disorder with an autosomal dominant pattern of inheritance. The disorder occurs equally in males and females. Each offspring of an affected person has a 50% chance of inheriting the genetic variant responsible for the disease. […] ADPKD is a genetically heterogeneous condition that involves at least 2 genes. PKD1 is located on chromosome 16p13.3 and accounts for most ADPKD cases. PKD2 is located on chromosome 4q21-q22 and accounts for up to 15% of ADPKD cases. Other genes identified as rare causes of ADPKD include GANAB, ALG9, DNAJB11, and LRP5. […] The genetic heterogeneity of ADKPD, and the possible contribution of modifier genes, may explain the wide clinical variability in this disease, both within and among families.

• #15

  https://journals.lww.com/cjasn/fulltext/2021/05000/insights_into_autosomal_dominant_polycystic_kidney.19.aspx

  Autosomal dominant polycystic kidney disease is the most common monogenic cause of ESKD. Genetic studies from patients and animal models have informed disease pathobiology and strongly support a threshold model in which cyst formation is triggered by reduced functional polycystin dosage below a critical threshold within individual tubular epithelial cells due to (1) germline and somatic PKD1 and/or PKD2 mutations, (2) mutations of genes (e.g., SEC63, SEC61B, GANAB, PRKCSH, DNAJB11, ALG8, and ALG9) in the endoplasmic reticulum protein biosynthetic pathway, or (3) somatic mosaicism. […] Recent genetic studies have identified a novel mechanism by which mutations in multiple genes encoding proteins functioning in the endoplasmic reticulum (ER) protein biosynthetic pathway cause ADPLD by modulating polycystin-1 dosage. […] The mechanisms by which reduced polycystin signaling in the primary cilia of tubular epithelial cells leads to cystic disease remain incompletely understood.

• #16 Autosomal dominant polycystic kidney disease (ADPKD) in adults: Epidemiology, clinical presentation, and diagnosis – UpToDate

  https://www.uptodate.com/contents/autosomal-dominant-polycystic-kidney-disease-adpkd-in-adults-epidemiology-clinical-presentation-and-diagnosis

  The patients with GANAB or ALG9 mutations usually have mild PKD that rarely progresses to ESKD and variable polycystic liver disease. […] The patients with DNAJB11 mutations have small bilateral kidney cysts without marked kidney enlargement and generally develop ESKD at an advanced age (60 to 90 years). […] Mild PKD can also be observed with mutations more commonly associated with autosomal dominant polycystic liver disease (PRKCSH, SEC63, LRP5, ALG8, and SEC61B). […] Genetic factors – The causative gene mutation is the major factor that determines the rate of progression among individual patients. […] The median age of the onset of end-stage kidney disease (ESKD) was 54 and 74 years for PKD1 and PKD2, respectively, in two studies. […] The presence of at least one family member who developed ESKD before age 55 years predicted a PKD1 mutation with a positive predictive value of 100 percent and a sensitivity of 72 percent. […] The presence of at least one family member who reached 70 years of age without ESKD predicted a PKD2 mutation with a positive predictive value of 100 percent and a sensitivity of 74 percent.

• #17 Autosomal Dominant Polycystic Kidney Disease | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/27399

  ADPKD involves mutations in various genes, two of which are identified. PKD1 (chromosome 16p13.3) accounts for 85% of ADPKD cases, and PKD2 (4q21) contributes 15%. […] Mutations in GANAB are thought to contribute to 1% of ADPKD patients with more variable polycystic liver disease. […] Mutations in the PKD1 and PKD2 genes express similar phenotypes. In the PKD1 form, about 50% of patients need renal replacement therapy by 60 years. PKD2 mutations are seen in older individuals and present with a milder disease with fewer renal cysts, late-onset hypertension, and less end-stage kidney disease (ESKD) than PKD1. […] Eighty-five percent of patients with ADPKD have PKD1 mutations, 15% have the PKD2 gene mutation, and about 1% have GANAB gene mutations. Other mutations leading to PKD are unidentified, and 10% to 15% of patients with ADPKD have no known family history, suggesting a high de novo mutation rate. […] PKD1 and PKD2 mutations have the same phenotype, but patients with PKD2 have a milder disease with fewer renal cysts, later onset of hypertension, and less ESKD than patients with PKD1. Patients with GANAB mutations also have a milder phenotype than PKD1 but have more associated hepatic disease.

• #18 Autosomal dominant polycystic kidney disease (ADPKD) in adults: Epidemiology, clinical presentation, and diagnosis – UpToDate

  https://www.uptodate.com/contents/autosomal-dominant-polycystic-kidney-disease-adpkd-in-adults-epidemiology-clinical-presentation-and-diagnosis

  The patients with GANAB or ALG9 mutations usually have mild PKD that rarely progresses to ESKD and variable polycystic liver disease. […] The patients with DNAJB11 mutations have small bilateral kidney cysts without marked kidney enlargement and generally develop ESKD at an advanced age (60 to 90 years). […] Mild PKD can also be observed with mutations more commonly associated with autosomal dominant polycystic liver disease (PRKCSH, SEC63, LRP5, ALG8, and SEC61B). […] Genetic factors – The causative gene mutation is the major factor that determines the rate of progression among individual patients. […] The median age of the onset of end-stage kidney disease (ESKD) was 54 and 74 years for PKD1 and PKD2, respectively, in two studies. […] The presence of at least one family member who developed ESKD before age 55 years predicted a PKD1 mutation with a positive predictive value of 100 percent and a sensitivity of 72 percent. […] The presence of at least one family member who reached 70 years of age without ESKD predicted a PKD2 mutation with a positive predictive value of 100 percent and a sensitivity of 74 percent.

• #19 Autosomal dominant polycystic kidney disease (ADPKD) in adults: Epidemiology, clinical presentation, and diagnosis – UpToDate

  https://www.uptodate.com/contents/autosomal-dominant-polycystic-kidney-disease-adpkd-in-adults-epidemiology-clinical-presentation-and-diagnosis

  The patients with GANAB or ALG9 mutations usually have mild PKD that rarely progresses to ESKD and variable polycystic liver disease. […] The patients with DNAJB11 mutations have small bilateral kidney cysts without marked kidney enlargement and generally develop ESKD at an advanced age (60 to 90 years). […] Mild PKD can also be observed with mutations more commonly associated with autosomal dominant polycystic liver disease (PRKCSH, SEC63, LRP5, ALG8, and SEC61B). […] Genetic factors – The causative gene mutation is the major factor that determines the rate of progression among individual patients. […] The median age of the onset of end-stage kidney disease (ESKD) was 54 and 74 years for PKD1 and PKD2, respectively, in two studies. […] The presence of at least one family member who developed ESKD before age 55 years predicted a PKD1 mutation with a positive predictive value of 100 percent and a sensitivity of 72 percent. […] The presence of at least one family member who reached 70 years of age without ESKD predicted a PKD2 mutation with a positive predictive value of 100 percent and a sensitivity of 74 percent.

• #20 Polycystic Kidney Disease, Autosomal Dominant | UCSF Health

  https://www.ucsfhealth.org/conditions/polycystic-kidney-disease-autosomal-dominant

  Autosomal dominant PKD causes fluid-filled cysts to grow in the kidneys. Cysts may also form in other organs, including the liver and pancreas. For many patients, so many cysts develop that they eventually cause kidney failure, making dialysis or a transplant necessary. […] PKD is a genetic disease. „Autosomal dominant” means that if one parent has the disease-causing genetic variation, each child will have a 50 percent chance of getting the disease. If a child doesn’t inherit the variation, he or she can’t pass along disease risk to the next generation. […] There are two forms of autosomal dominant PKD, each caused by an abnormality in a different gene: PKD1 or PKD2. The PKD1 form is more common, accounting for 85 percent of cases, and more severe. […] The milder form, PKD2 disease, usually manifests later in life, and is less likely to result in kidney failure except at much older ages.

• #21 Autosomal dominant polycystic kidney disease (ADPKD) in adults: Epidemiology, clinical presentation, and diagnosis – UpToDate

  https://www.uptodate.com/contents/autosomal-dominant-polycystic-kidney-disease-adpkd-in-adults-epidemiology-clinical-presentation-and-diagnosis

  The patients with GANAB or ALG9 mutations usually have mild PKD that rarely progresses to ESKD and variable polycystic liver disease. […] The patients with DNAJB11 mutations have small bilateral kidney cysts without marked kidney enlargement and generally develop ESKD at an advanced age (60 to 90 years). […] Mild PKD can also be observed with mutations more commonly associated with autosomal dominant polycystic liver disease (PRKCSH, SEC63, LRP5, ALG8, and SEC61B). […] Genetic factors – The causative gene mutation is the major factor that determines the rate of progression among individual patients. […] The median age of the onset of end-stage kidney disease (ESKD) was 54 and 74 years for PKD1 and PKD2, respectively, in two studies. […] The presence of at least one family member who developed ESKD before age 55 years predicted a PKD1 mutation with a positive predictive value of 100 percent and a sensitivity of 72 percent. […] The presence of at least one family member who reached 70 years of age without ESKD predicted a PKD2 mutation with a positive predictive value of 100 percent and a sensitivity of 74 percent.

• #22 Autosomal dominant polycystic kidney disease (ADPKD) in adults: Epidemiology, clinical presentation, and diagnosis – UpToDate

  https://www.uptodate.com/contents/autosomal-dominant-polycystic-kidney-disease-adpkd-in-adults-epidemiology-clinical-presentation-and-diagnosis

  The patients with GANAB or ALG9 mutations usually have mild PKD that rarely progresses to ESKD and variable polycystic liver disease. […] The patients with DNAJB11 mutations have small bilateral kidney cysts without marked kidney enlargement and generally develop ESKD at an advanced age (60 to 90 years). […] Mild PKD can also be observed with mutations more commonly associated with autosomal dominant polycystic liver disease (PRKCSH, SEC63, LRP5, ALG8, and SEC61B). […] Genetic factors – The causative gene mutation is the major factor that determines the rate of progression among individual patients. […] The median age of the onset of end-stage kidney disease (ESKD) was 54 and 74 years for PKD1 and PKD2, respectively, in two studies. […] The presence of at least one family member who developed ESKD before age 55 years predicted a PKD1 mutation with a positive predictive value of 100 percent and a sensitivity of 72 percent. […] The presence of at least one family member who reached 70 years of age without ESKD predicted a PKD2 mutation with a positive predictive value of 100 percent and a sensitivity of 74 percent.

• #23 Polycystic Kidney Disease (PKD) Symptoms, Treatments & Causes – American Kidney Fund (AKF)

  https://www.kidneyfund.org/all-about-kidneys/types-kidney-diseases/polycystic-kidney-disease

  Polycystic kidney disease (PKD) is a genetic disorder that causes many fluid-filled cysts to grow in your kidneys, leading to kidney damage. There are two types of PKD: autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). […] A change (mutation) in your genes causes PKD. Genes are part of your cells that contain DNA and tell your cells what to do. […] Autosomal dominant PKD (ADPKD) is caused by a change in a specific gene (either the PKD1 or PKD2 gene). […] In 9 out of 10 cases, if you have ADPKD, then one of your biological parents also has the change in the PKD1 or PKD2 genes even if they were not diagnosed with ADPKD. […] The genetic change that causes ADPKD can sometimes happen during your life without either of your parents having passed the changed gene to you. […] ARPKD is caused by a change in a specific gene called PKHD1 that is passed down from both parents to their children.

• #24 Polycystic kidney disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/polycystic-kidney-disease/

  Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. […] The two major forms of polycystic kidney disease are distinguished by the usual age of onset and the pattern in which it is passed through families. The autosomal dominant form (sometimes called ADPKD) has signs and symptoms that typically begin in adulthood, although cysts in the kidney are often present from birth or childhood. […] Mutations in either the PKD1 or PKD2 gene can cause autosomal dominant polycystic kidney disease; PKD1 gene mutations cause ADPKD type 1, and PKD2 gene mutations cause ADPKD type 2. […] Most cases of polycystic kidney disease have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the PKD1 or PKD2 gene in each cell. […] Although one altered copy of a gene in each cell is sufficient to cause the disorder, an additional mutation in the second copy of the PKD1 or PKD2 gene may make cysts grow faster and increase the severity of the disease.

• #25 What causes ADPKD? – Polycystic kidney disease | PKD treatment research | PKD Foundation

  https://pkdcure.org/about-the-disease/adpkd/what-causes-adpkd/

  Four to 10% of patients with ADPKD may have de novo disease due to a spontaneous mutation. Typically these patients dont have a family history of ADPKD. Their disease is due to a spontaneous mutation of the PKD1 or PKD2 gene in one of the germ cells (i.e. egg or sperm) of one of their parents that then gets passed on to them. […] Yes, the genes for ADPKD are dominant, which means that inheriting only one mutated copy of the PKD1 or PKD2 gene from an affected parent is sufficient to cause the disease. There is no carrier state with a dominant disease, and it doesnt skip a generation. This means the disease will eventually manifest as you get older and all generations in a family have the potential to be affected. […] Significant kidney disease variability within ADPKD families suggest other genetic and environmental factors can modify the severity of this disease.

• #26 Polycystic kidney disease – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/polycystic-kidney-disease/symptoms-causes/syc-20352820

  Only one parent needs to have the condition to pass it to the children. If one parent has ADPKD, each child has a 50% chance of getting the condition. This is the more common type of polycystic kidney disease. […] The biggest risk factor for getting polycystic kidney disease is getting the gene changes that cause the disease from one or both parents.

• #27 Polycystic kidney disease (Causes, Symptoms and Treatment)

  https://patient.info/doctor/autosomal-dominant-polycystic-kidney-disease

  If one parent has the disease there is a 50% chance of transmission to offspring. If both parents have the disease there is a 50% chance that the fetus will carry the disease in a heterozygous manner, a 25% chance of normality but a 25% chance of being a homozygote for the disease. Homozygotes are thought to die in utero.

• #28 What causes ADPKD? – Polycystic kidney disease | PKD treatment research | PKD Foundation

  https://pkdcure.org/about-the-disease/adpkd/what-causes-adpkd/

  Four to 10% of patients with ADPKD may have de novo disease due to a spontaneous mutation. Typically these patients dont have a family history of ADPKD. Their disease is due to a spontaneous mutation of the PKD1 or PKD2 gene in one of the germ cells (i.e. egg or sperm) of one of their parents that then gets passed on to them. […] Yes, the genes for ADPKD are dominant, which means that inheriting only one mutated copy of the PKD1 or PKD2 gene from an affected parent is sufficient to cause the disease. There is no carrier state with a dominant disease, and it doesnt skip a generation. This means the disease will eventually manifest as you get older and all generations in a family have the potential to be affected. […] Significant kidney disease variability within ADPKD families suggest other genetic and environmental factors can modify the severity of this disease.

• #29 Autosomal Dominant Polycystic Kidney Disease | AAFP

  https://www.aafp.org/pubs/afp/issues/2014/0901/p303.html

  Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of kidney disease. […] ADPKD is a heterogenetic disorder caused by mutations in the PKD1 gene located on chromosome 16 or in the PKD2 gene located on chromosome 4. […] Mutations of PKD1 (85% of cases) or PKD2 (15% of cases) can lead to signal dysregulation and increased levels of cyclic adenosine monophosphate, culminating into cystogenesis. […] Given the dominant nature of transmission, there is at least a 50% probability that a child of an affected parent will inherit the disease. […] A spontaneous mutation causes ADPKD in 5% of cases.

• #30 Autosomal Dominant Polycystic Kidney Disease: Early intervention and lifestyle crucial – Mayo Clinic News Network

  https://newsnetwork.mayoclinic.org/discussion/autosomal-dominant-polycystic-kidney-disease-early-intervention-and-lifestyle-crucial/

  A comprehensive review published by Mayo Clinic researchers advances the understanding of Autosomal Dominant Polycystic Kidney Disease (ADPKD), the most common inherited form of kidney disease and the fourth leading cause of kidney failure worldwide. […] A change in one of two genes, PKD1 (78%) or PKD2 (15%), causes most cases of ADPKD. If a person has one of these changes, they have a 50% chance of passing the condition on to their children. However, 10-25% of people have a genetic alteration not inherited from either parent.

• #31 Autosomal dominant polycystic kidney disease | nidirect

  https://www.nidirect.gov.uk/conditions/autosomal-dominant-polycystic-kidney-disease

  ADPKD is caused by a genetic fault that disrupts the normal development of some of the cells in the kidneys and causes cysts to grow. […] Faults in one of two different genes are known to cause ADPKD. The affected genes are: PKD1 which accounts for 85 per cent of cases, PKD2 which accounts for 15 per cent of cases. […] A child has a one in two chance of developing ADPKD if one of their parents has the faulty PKD1 or PKD2 gene. […] In around one in 10 cases of ADPKD, the mutation develops for the first time in the affected person. It’s not known what causes this to happen.

• #32 Polycystic Kidney Disease (PKD) > Fact Sheets > Yale Medicine

  https://www.yalemedicine.org/conditions/polycystic-kidney-disease

  Polycystic kidney disease is almost always caused by mutations in one of two genes, called PKD1 and PKD2. These mutations can occur randomly in any newborn, so they affect populations across the world at similar rates. But once a mutation occurs in an individual, it can be inherited by his or her offspring. An affected parent has a one in two chance of passing it on to each of his or her children, says Dr. Somlo. […] Many patients at risk for inherited kidney disease know of their predisposition, usually because their parent or sibling has already been diagnosed with it. These patients may start seeing a doctor for monitoring before symptoms develop. But a small subset will be the first in their family to have the mutation, which doctors call a de novo mutation. Their disease is typically discovered when they start to have symptoms.

• #33 Autosomal Dominant Polycystic Kidney Disease: From Pathophysiology of Cystogenesis to Advances in the Treatment

  https://www.mdpi.com/1422-0067/23/6/3317

  Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic renal disease, with an estimated prevalence between 1:1000 and 1:2500. It is mostly caused by mutations of the PKD1 and PKD2 genes encoding polycystin 1 (PC1) and polycystin 2 (PC2) that regulate cellular processes such as fluid transport, differentiation, proliferation, apoptosis and cell adhesion. […] In most cases, ADPKD is caused by mutations in 2 genes: PKD1 (16p13.3) and PKD2 (4q22.1). The germline mutations in PKD1 gene are present in about 80% of the ADPKD patients, mutations in PKD2 gene in the remaining 15% of ADPKD patients. […] The typical manifestation of ADPKD is the formation of renal cysts. Cysts are formed in about 1% to 3% of nephrons. […] The cyst development and enlargement include numerous cellular changes. The resulting changes in polycystin expression cause the damage of several intracellular signaling pathways terminating in the development of cysts due to cell proliferation and fluid secretion.

• #34 What causes ADPKD? – Polycystic kidney disease | PKD treatment research | PKD Foundation

  https://pkdcure.org/about-the-disease/adpkd/what-causes-adpkd/

  Mutations (unintended changes or typos) in one of two genes (PKD1 or PKD2) account for most cases of ADPKD. Recently, researchers discovered a new gene, GANAB, thats believed to cause polycystic liver and kidney disease as well. Mutations of the first gene, PKD1, are the most common and account for about 85% of ADPKD patients. However, in about 7% of patients, its not possible to determine which gene mutation is causing the disease. […] The PKD1 and PKD2 genes encode the proteins polycystin-1 and polycystin-2, respectively. These two proteins interact to regulate cells in the kidneys and liver, play a role in forming tubular structures, and influence growth and fluid secretion function. Mutations of the PKD1 or PKD2 gene create cells with abnormal functions and ultimately result in the cyst growth common in ADPKD.

• #35 Autosomal Dominant Polycystic Kidney Disease: From Pathophysiology of Cystogenesis to Advances in the Treatment

  https://www.mdpi.com/1422-0067/23/6/3317

  Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic renal disease, with an estimated prevalence between 1:1000 and 1:2500. It is mostly caused by mutations of the PKD1 and PKD2 genes encoding polycystin 1 (PC1) and polycystin 2 (PC2) that regulate cellular processes such as fluid transport, differentiation, proliferation, apoptosis and cell adhesion. […] In most cases, ADPKD is caused by mutations in 2 genes: PKD1 (16p13.3) and PKD2 (4q22.1). The germline mutations in PKD1 gene are present in about 80% of the ADPKD patients, mutations in PKD2 gene in the remaining 15% of ADPKD patients. […] The typical manifestation of ADPKD is the formation of renal cysts. Cysts are formed in about 1% to 3% of nephrons. […] The cyst development and enlargement include numerous cellular changes. The resulting changes in polycystin expression cause the damage of several intracellular signaling pathways terminating in the development of cysts due to cell proliferation and fluid secretion.

• #36 Autosomal Dominant Polycystic Kidney Disease (ADPKD)

  https://www.urology-textbook.com/adpkd.html

  Autosomal dominant polycystic kidney disease is an inherited cystic renal disease with the development of end-stage renal disease in adulthood (Kuehn and Walz, 2007). […] Variations in two genes are known to cause aut. dom. polycystic kidney disease. In 8590% of patients with ADPKD, mutations in PKD1 (chromosome 16, coding for polycystin-1) are responsible for the disease. In 1015%, mutations of PKD2 (chromosome 4, coding for polycystin-2) are responsible. […] ADPKD occurs to Knudson’s theory of two hits: one diseased gene is inherited, and the second copy of the gene is damaged by a spontaneous mutation. This explains the long asymptomatic latency in the onset of the disease. […] Defective polycystin leads to the tubular epithelium’s proliferation and cyst formation; every part of the nephron may be affected.

• #37 Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts | npj Genomic Medicine

  https://www.nature.com/articles/s41525-024-00452-6

  Autosomal Dominant Polycystic Kidney Disease (ADPKD) results in progressive cysts that lead to kidney failure, and is caused by heterozygous germline variants in PKD1 or PKD2. […] Cyst pathogenesis is not definitively understood. […] Somatic second-hit mutations have been implicated in cyst pathogenesis, though technical sequencing challenges have limited investigation. […] It is thought that the kidney is sensitive to levels of polycystin-1 and polycystin-2, such that reduced levels results in cyst initiation. […] There are hypotheses that haploinsufficiency alone (loss of one allele) is enough to account for the initiation of kidney cysts. […] Other data supports a two-hit hypothesis, in which a somatic variant is required in the alternate PKD1 or PKD2 allele of a patient with a germline pathogenic variant, such that ADPKD is actually recessive at the level of the kidney epithelial cell.

• #38 Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts | npj Genomic Medicine

  https://www.nature.com/articles/s41525-024-00452-6

  The underlying reason why germline heterozygous variants in PKD1 or PKD2 lead to kidney cyst development and progression is not clearly understood. […] Reduction in the amount of polycystin-1 and polycystin-2 within the kidney epithelial cell is linked to cyst development and there is experimental evidence that supports both the theory that haploinsufficiency alone is sufficient for cyst development and alternate data that supports that somatic mutation of the alternate allele is also required. […] Our study, which utilised methodologies well-established in the oncology somatic variant-detection field, identified somatic, pathogenic PKD1 variants in 58% of consecutive cysts studied. […] Our data shows that somatic mutation has a role in a significant proportion of ADPKD cystic tissue and therapies that can reduce this mutation burden may allow clinically meaningful reduction in disease progression.

• #39 Autosomal dominant polycystic kidney disease – Wikipedia

  https://en.wikipedia.org/wiki/Autosomal_dominant_polycystic_kidney_disease

  Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common, life-threatening inherited human disorders and the most common hereditary kidney disease. It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and modifier genes. […] ADPKD is genetically heterogeneous with two genes identified: PKD1 (chromosome region 16p13.3; around 85% cases) and PKD2 (4q21; around 15% cases). Several genetic mechanisms probably contribute to the phenotypic expression of the disease. […] The significant intrafamilial variability observed in the severity of renal and extrarenal manifestations points to genetic and environmental modifying factors that may influence the outcome of ADPKD, and results of an analysis of the variability in renal function between monozygotic twins and siblings support the role of genetic modifiers in this disease. […] Factors suggested to lead to cystogenesis include a germline mutation in one of the polycystin gene alleles, a somatic second hit that leads to the loss of the normal allele, and a third hit, which can be a renal insult that triggers cell proliferation, and an injury response.

• #40 Autosomal Dominant Polycystic Kidney Disease: From Pathophysiology of Cystogenesis to Advances in the Treatment

  https://www.mdpi.com/1422-0067/23/6/3317

  One of the typical features of cyst-lining cells is elevated cAMP levels. cAMP stimulates the growth of cystic cells through stimulation of protein kinase A and activation of the Ras/Raf/ERK pathway leading to proliferation and enlargement of cystic cells. […] The negative effect of PC1 on TSC-mTOR pathway (tuberous sclerosis complex-mammalian target of rapamycin) was described. […] The cytosolic domain of PC1 activates transcription factor AP-1 (activating protein-1). AP-1 influences the cellular actions such as differentiation, proliferation and apoptosis. […] The Wnt signaling pathway regulates essential biological functions. Wnt proteins are growth factors. They play a roles in signaling pathways controlling proliferation, differentiation and cellular polarity during embryonal development.

• #41 Autosomal Dominant Polycystic Kidney Disease: From Pathophysiology of Cystogenesis to Advances in the Treatment

  https://www.mdpi.com/1422-0067/23/6/3317

  One of the typical features of cyst-lining cells is elevated cAMP levels. cAMP stimulates the growth of cystic cells through stimulation of protein kinase A and activation of the Ras/Raf/ERK pathway leading to proliferation and enlargement of cystic cells. […] The negative effect of PC1 on TSC-mTOR pathway (tuberous sclerosis complex-mammalian target of rapamycin) was described. […] The cytosolic domain of PC1 activates transcription factor AP-1 (activating protein-1). AP-1 influences the cellular actions such as differentiation, proliferation and apoptosis. […] The Wnt signaling pathway regulates essential biological functions. Wnt proteins are growth factors. They play a roles in signaling pathways controlling proliferation, differentiation and cellular polarity during embryonal development.

• #42 Autosomal Dominant Polycystic Kidney Disease: From Pathophysiology of Cystogenesis to Advances in the Treatment

  https://www.mdpi.com/1422-0067/23/6/3317

  One of the typical features of cyst-lining cells is elevated cAMP levels. cAMP stimulates the growth of cystic cells through stimulation of protein kinase A and activation of the Ras/Raf/ERK pathway leading to proliferation and enlargement of cystic cells. […] The negative effect of PC1 on TSC-mTOR pathway (tuberous sclerosis complex-mammalian target of rapamycin) was described. […] The cytosolic domain of PC1 activates transcription factor AP-1 (activating protein-1). AP-1 influences the cellular actions such as differentiation, proliferation and apoptosis. […] The Wnt signaling pathway regulates essential biological functions. Wnt proteins are growth factors. They play a roles in signaling pathways controlling proliferation, differentiation and cellular polarity during embryonal development.

• #43 Autosomal Dominant Polycystic Kidney Disease: From Pathophysiology of Cystogenesis to Advances in the Treatment

  https://www.mdpi.com/1422-0067/23/6/3317

  One of the typical features of cyst-lining cells is elevated cAMP levels. cAMP stimulates the growth of cystic cells through stimulation of protein kinase A and activation of the Ras/Raf/ERK pathway leading to proliferation and enlargement of cystic cells. […] The negative effect of PC1 on TSC-mTOR pathway (tuberous sclerosis complex-mammalian target of rapamycin) was described. […] The cytosolic domain of PC1 activates transcription factor AP-1 (activating protein-1). AP-1 influences the cellular actions such as differentiation, proliferation and apoptosis. […] The Wnt signaling pathway regulates essential biological functions. Wnt proteins are growth factors. They play a roles in signaling pathways controlling proliferation, differentiation and cellular polarity during embryonal development.

• #44 Targeting TRPM3 as a potential therapeutic approach for autosomal dominant polycystic kidney disease | Scientific Reports

  https://www.nature.com/articles/s41598-025-89200-z

  Cystic diseases, especially autosomal dominant polycystic kidney disease (ADPKD; incidence approx. 1/1000), are a leading cause of renal failure, caused by appearance and growth of renal cysts that can lead to renal failure in middle age. Most ADPKD cases are caused by mutations in PKD1 or PKD2, encoding polycystin-1 (PC1) and polycystin-2 (PC2). […] Almost all cases of ADPKD are caused by mutations in one of two genes: PKD1 (about 78% of cases) and PKD2 (about 15% of cases). […] According to current understanding, the Ca2+-conducting activity of PC2-containing complexes is critical to the ability of wild-type PC2 to suppress development of renal cysts. […] Our results show that the cyst-promoting effect of cAMP elevation on developing mouse kidneys is exacerbated by co-incubation with any of a range of TRPM3 inhibitors, but is attenuated by co-incubation with TRPM3 activators.

• #45 Autosomal Dominant Polycystic Kidney Disease (ADPKD)

  https://www.urology-textbook.com/adpkd.html

  The disease leads to the activation of mTOR signaling, enhances cAMP production, and increases ion and fluid secretion into the renal cystic lumen. […] The vasopressin V2-receptor blocker tolvaptan inhibits ADH dependent cAMP production, slows the increase in kidney volume, and delays the development of chronic kidney disease. […] ADPKD leads to dialysis in 2% by the age of 40, 23% by the age of 50, and 48% by the age of 73. The risk for end-stage renal disease correlates closely with kidney volume (see above).

• #46 Autosomal dominant polycystic kidney disease – Wikipedia

  https://en.wikipedia.org/wiki/Autosomal_dominant_polycystic_kidney_disease

  Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common, life-threatening inherited human disorders and the most common hereditary kidney disease. It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and modifier genes. […] ADPKD is genetically heterogeneous with two genes identified: PKD1 (chromosome region 16p13.3; around 85% cases) and PKD2 (4q21; around 15% cases). Several genetic mechanisms probably contribute to the phenotypic expression of the disease. […] The significant intrafamilial variability observed in the severity of renal and extrarenal manifestations points to genetic and environmental modifying factors that may influence the outcome of ADPKD, and results of an analysis of the variability in renal function between monozygotic twins and siblings support the role of genetic modifiers in this disease. […] Factors suggested to lead to cystogenesis include a germline mutation in one of the polycystin gene alleles, a somatic second hit that leads to the loss of the normal allele, and a third hit, which can be a renal insult that triggers cell proliferation, and an injury response.

• #47 Autosomal dominant polycystic kidney disease (ADPKD) in adults: Epidemiology, clinical presentation, and diagnosis – UpToDate

  https://www.uptodate.com/contents/autosomal-dominant-polycystic-kidney-disease-adpkd-in-adults-epidemiology-clinical-presentation-and-diagnosis

  Autosomal dominant polycystic kidney disease (ADPKD) is a common disorder, occurring in approximately 1 in 1000 live births. Approximately 78 percent of families with ADPKD have an abnormality on chromosome 16 (PKD1 locus). Most of the remaining families (14 percent) have a different defect that involves a gene on chromosome 4 (the PKD2 locus), while a minority of families have a defect in the GANAB gene, encoding the glucosidase II alpha subunit, or the DNAJB11 gene. […] ADPKD is predominantly caused by mutations in one of two genes: PKD1 (which encodes polycystin-1) on chromosome 16 and PKD2 (which encodes polycystin-2) on chromosome 4. […] Risk factors that have been identified for progressive kidney disease in ADPKD include genetic factors – the causative gene mutation is the major factor that determines the rate of progression among individual patients.

• #48 Autosomal dominant polycystic kidney disease – Wikipedia

  https://en.wikipedia.org/wiki/Autosomal_dominant_polycystic_kidney_disease

  Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common, life-threatening inherited human disorders and the most common hereditary kidney disease. It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and modifier genes. […] ADPKD is genetically heterogeneous with two genes identified: PKD1 (chromosome region 16p13.3; around 85% cases) and PKD2 (4q21; around 15% cases). Several genetic mechanisms probably contribute to the phenotypic expression of the disease. […] The significant intrafamilial variability observed in the severity of renal and extrarenal manifestations points to genetic and environmental modifying factors that may influence the outcome of ADPKD, and results of an analysis of the variability in renal function between monozygotic twins and siblings support the role of genetic modifiers in this disease. […] Factors suggested to lead to cystogenesis include a germline mutation in one of the polycystin gene alleles, a somatic second hit that leads to the loss of the normal allele, and a third hit, which can be a renal insult that triggers cell proliferation, and an injury response.

• #49 What causes ADPKD? – Polycystic kidney disease | PKD treatment research | PKD Foundation

  https://pkdcure.org/about-the-disease/adpkd/what-causes-adpkd/

  Four to 10% of patients with ADPKD may have de novo disease due to a spontaneous mutation. Typically these patients dont have a family history of ADPKD. Their disease is due to a spontaneous mutation of the PKD1 or PKD2 gene in one of the germ cells (i.e. egg or sperm) of one of their parents that then gets passed on to them. […] Yes, the genes for ADPKD are dominant, which means that inheriting only one mutated copy of the PKD1 or PKD2 gene from an affected parent is sufficient to cause the disease. There is no carrier state with a dominant disease, and it doesnt skip a generation. This means the disease will eventually manifest as you get older and all generations in a family have the potential to be affected. […] Significant kidney disease variability within ADPKD families suggest other genetic and environmental factors can modify the severity of this disease.

• #50 Autosomal dominant polycystic kidney disease (ADPKD) in adults: Epidemiology, clinical presentation, and diagnosis – UpToDate

  https://www.uptodate.com/contents/autosomal-dominant-polycystic-kidney-disease-adpkd-in-adults-epidemiology-clinical-presentation-and-diagnosis

  The patients with GANAB or ALG9 mutations usually have mild PKD that rarely progresses to ESKD and variable polycystic liver disease. […] The patients with DNAJB11 mutations have small bilateral kidney cysts without marked kidney enlargement and generally develop ESKD at an advanced age (60 to 90 years). […] Mild PKD can also be observed with mutations more commonly associated with autosomal dominant polycystic liver disease (PRKCSH, SEC63, LRP5, ALG8, and SEC61B). […] Genetic factors – The causative gene mutation is the major factor that determines the rate of progression among individual patients. […] The median age of the onset of end-stage kidney disease (ESKD) was 54 and 74 years for PKD1 and PKD2, respectively, in two studies. […] The presence of at least one family member who developed ESKD before age 55 years predicted a PKD1 mutation with a positive predictive value of 100 percent and a sensitivity of 72 percent. […] The presence of at least one family member who reached 70 years of age without ESKD predicted a PKD2 mutation with a positive predictive value of 100 percent and a sensitivity of 74 percent.

• #51 Mortality risk in patients with autosomal dominant polycystic kidney disease | BMC Nephrology | Full Text

  https://bmcnephrol.biomedcentral.com/articles/10.1186/s12882-024-03484-3

  Mortality rates specific to patients aged 65 years suggest racial differences in mortality among these patients in both non-ESRD CKD and ESRD cohorts. […] The results of this study suggest a lower risk of death for communities of color with ADPKD and ESRD than for White patients, based on comparison of mortality rates in ESRD and non-ESRD cohorts. […] These data also suggest potential racial differences in mortality among patients aged 65 years with ADPKD in both non-ESRD CKD and ESRD cohorts, and a possible survivorship effect among Black patients aged 65 years with ADPKD.

• #52 Autosomal Dominant Polycystic Kidney Disease – NIDDK

  https://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/autosomal-dominant-pkd

  Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of PKD. […] Researchers have found two different gene mutations that cause ADPKD. Most people with ADPKD have defects in the PKD1 gene, and 1 out of 6 or 1 out of 7 people with ADPKD have a defective PKD2 gene. […] Health care providers can diagnose people with PKD1 sooner because their symptoms appear sooner. […] More than half of people with ADPKD progress to kidney failure by age 70. […] Researchers have not found a link between PKD and kidney cancer. […] Because the hormone estrogen may affect liver cyst growth, women are more likely to have liver cysts than men. […] ADPKD can eventually cause your kidneys to fail.

• #53 Treating autosomal dominant polycystic kidney disease by using inhalable thyroid hormone-nanocarriers

  https://www.fondazionetelethon.it/en/what-we-do/research/projects-funded/treating-autosomal-dominant-polycystic-kidney-disease-by-using-inhalable-thyroid-hormone-nanocarriers

  Autosomal dominant polycystic kidney disease (ADPKD) is a genetic, rare disease, that causes uncontrolled growth of cysts in the kidney. […] There is no cure for ADPKD. […] Our studies showed that treatment with L-thyroxine (T4) a hormone that is naturally produced by the thyroid gland and usually reduced in patients with kidney disease can drastically prevent the progression of the disease. […] To strengthen the beneficial effects of T4 and avoid possible undesired ones, here we will develop a nanomedicine-based approach (NanoT4) that can specifically target and deliver T4 to polycystic kidneys. […] This project aspires to develop a safe and efficient approach for treating ADPKD and to yield important new knowledge about the pathobiology of ADPKD.

• #54 Polycystic Kidney Disease (PKD) – AAKP

  https://aakp.org/center-for-patient-research-and-education/causes-of-kidney-disease/pkd-2/

  Polycystic kidney disease (PKD) is the most common inherited cause of end-stage kidney disease (ESKD). PKD can be either autosomal dominant or recessive. Autosomal dominant type of PKD is the more common of the two types of PKD. […] Autosomal dominant PKD (ADPKD) is identified by the development and progressive enlargement of fluid-filled renal cysts. If one parent has PKD, each child has a 50% chance of inheriting the disease. […] Impaired calcium regulation (a mineral) and elevated vasopressin levels (a hormone) lead to extra cells developing and fluid secretion which are the main reasons why cysts develop on the kidneys. The fluid-filled cysts damage the kidneys and this damage prevents the kidneys from working properly. […] There is no cure for PKD, but a new treatment is available that has been shown to slow the progression of ADPKD to kidney failure.

• #55 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Complications-of-Polycystic-Kidney-Disease-(PKD).aspx

  Polycystic kidney disease (PKD) may be autosomal dominant or autosomal recessive, depending on the genetic pattern. […] While hypertension complicates ADPKD in approximately half the cases at initial presentation, kidney function is usually clinically normal at this stage. However, once renal insufficiency and failure sets in, almost all patients develop severe hypertension. […] Early occurrence of renal insufficiency may also occur due to: abnormal renal architecture, inefficient countercurrent multiplication, poor solute and ammonia sequestration in the renal medulla. […] The reasons for renal failure include: destruction of the normal nephrons by expanding cysts, sclerosis of the renal arterioles and capillaries, interstitial inflammation and consequent fibrosis, death of the renal tubular epithelium by apoptosis. […] Some patients may also be affected by hypertension, which further aggravates renal damage and frequent urinary tract infections.

• #56 Polycystic Kidney Disease: Types, Causes and Treatment

  https://patient.info/kidney-urinary-tract/chronic-kidney-disease-leaflet/polycystic-kidney-disease

  The medical term for reduced kidney function is chronic kidney disease (CKD). CKD means that your kidneys are damaged. […] Various conditions can cause CKD, including ADPKD. […] About half of people with ADPKD have developed stage 5 CKD (end-stage kidney disease) by the age of 60, with about 6 in 10 developing it by age 70. […] Having ADPKD greatly increases the chance that high blood pressure will develop. […] The kidneys play a vital role in controlling blood pressure.

• #57 Autosomal dominant polycystic kidney disease – Libre Pathology

  https://librepathology.org/wiki/Autosomal_dominant_polycystic_kidney_disease

  Autosomal dominant polycystic kidney disease, abbreviated ADPKD, is a common genetic cause of chronic renal failure. […] Mutation in PKD1 gene or PKD2 gene. […] Is classified in a large group of diseases – ciliopathies. […] PKD1 related disease: Encodes polycystin. […] PKD2 related disease: Death at ~69 years. Associated with colonic diverticula, aortic aneurysm, mitral valve prolapse.

• #58 Polycystic Kidney Disease | Loma Linda University Health

  https://lluh.org/conditions/polycystic-kidney-disease

  Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of PKD. It accounts for about 90% of all PKD cases. Autosomal dominant means that if 1 parent has the disease, there is a 50% chance that the disease will pass to a child. […] In 10% of cases, there may be no family history of PKD. These cases are new mutations in a family. In very few cases, ADPKD occurs suddenly after conception. […] But people with PKD have a 50% chance of passing the gene on to their children. […] ADPKD may occur with other conditions such as: Tuberous sclerosis (a genetic syndrome involving seizures, intellectual disability, benign tumors, and skin lesions), Liver disease, Severe eye problems. […] Review of family history of ADPKD. There are 3 different dominant genes that have been identified. They further subdivide ADPKD into PKD1, PKD2, and PKD3.

• #59 Polycystic Kidney Disease | Loma Linda University Health

  https://lluh.org/conditions/polycystic-kidney-disease

  Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of PKD. It accounts for about 90% of all PKD cases. Autosomal dominant means that if 1 parent has the disease, there is a 50% chance that the disease will pass to a child. […] In 10% of cases, there may be no family history of PKD. These cases are new mutations in a family. In very few cases, ADPKD occurs suddenly after conception. […] But people with PKD have a 50% chance of passing the gene on to their children. […] ADPKD may occur with other conditions such as: Tuberous sclerosis (a genetic syndrome involving seizures, intellectual disability, benign tumors, and skin lesions), Liver disease, Severe eye problems. […] Review of family history of ADPKD. There are 3 different dominant genes that have been identified. They further subdivide ADPKD into PKD1, PKD2, and PKD3.

• #60 Polycystic Kidney Disease | Loma Linda University Health

  https://lluh.org/conditions/polycystic-kidney-disease

  Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of PKD. It accounts for about 90% of all PKD cases. Autosomal dominant means that if 1 parent has the disease, there is a 50% chance that the disease will pass to a child. […] In 10% of cases, there may be no family history of PKD. These cases are new mutations in a family. In very few cases, ADPKD occurs suddenly after conception. […] But people with PKD have a 50% chance of passing the gene on to their children. […] ADPKD may occur with other conditions such as: Tuberous sclerosis (a genetic syndrome involving seizures, intellectual disability, benign tumors, and skin lesions), Liver disease, Severe eye problems. […] Review of family history of ADPKD. There are 3 different dominant genes that have been identified. They further subdivide ADPKD into PKD1, PKD2, and PKD3.

• #61 Autosomal dominant polycystic kidney disease – Libre Pathology

  https://librepathology.org/wiki/Autosomal_dominant_polycystic_kidney_disease

  Autosomal dominant polycystic kidney disease, abbreviated ADPKD, is a common genetic cause of chronic renal failure. […] Mutation in PKD1 gene or PKD2 gene. […] Is classified in a large group of diseases – ciliopathies. […] PKD1 related disease: Encodes polycystin. […] PKD2 related disease: Death at ~69 years. Associated with colonic diverticula, aortic aneurysm, mitral valve prolapse.

• #62 Autosomal dominant polycystic kidney disease – Libre Pathology

  https://librepathology.org/wiki/Autosomal_dominant_polycystic_kidney_disease

  Autosomal dominant polycystic kidney disease, abbreviated ADPKD, is a common genetic cause of chronic renal failure. […] Mutation in PKD1 gene or PKD2 gene. […] Is classified in a large group of diseases – ciliopathies. […] PKD1 related disease: Encodes polycystin. […] PKD2 related disease: Death at ~69 years. Associated with colonic diverticula, aortic aneurysm, mitral valve prolapse.

• #63 Autosomal dominant polycystic kidney disease – Libre Pathology

  https://librepathology.org/wiki/Autosomal_dominant_polycystic_kidney_disease

  Autosomal dominant polycystic kidney disease, abbreviated ADPKD, is a common genetic cause of chronic renal failure. […] Mutation in PKD1 gene or PKD2 gene. […] Is classified in a large group of diseases – ciliopathies. […] PKD1 related disease: Encodes polycystin. […] PKD2 related disease: Death at ~69 years. Associated with colonic diverticula, aortic aneurysm, mitral valve prolapse.

• #64 Autosomal Dominant Polycystic Kidney Disease – NIDDK

  https://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/autosomal-dominant-pkd

  Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of PKD. […] Researchers have found two different gene mutations that cause ADPKD. Most people with ADPKD have defects in the PKD1 gene, and 1 out of 6 or 1 out of 7 people with ADPKD have a defective PKD2 gene. […] Health care providers can diagnose people with PKD1 sooner because their symptoms appear sooner. […] More than half of people with ADPKD progress to kidney failure by age 70. […] Researchers have not found a link between PKD and kidney cancer. […] Because the hormone estrogen may affect liver cyst growth, women are more likely to have liver cysts than men. […] ADPKD can eventually cause your kidneys to fail.

• #65 Autosomal Dominant Polycystic Kidney Disease (ADPKD)

  https://www.urology-textbook.com/adpkd.html

  The disease leads to the activation of mTOR signaling, enhances cAMP production, and increases ion and fluid secretion into the renal cystic lumen. […] The vasopressin V2-receptor blocker tolvaptan inhibits ADH dependent cAMP production, slows the increase in kidney volume, and delays the development of chronic kidney disease. […] ADPKD leads to dialysis in 2% by the age of 40, 23% by the age of 50, and 48% by the age of 73. The risk for end-stage renal disease correlates closely with kidney volume (see above).

• #66 Polycystic kidney disease (PKD) – Symptoms, causes, treatment | National Kidney Foundation

  https://www.kidney.org/kidney-topics/polycystic-kidney-disease

  Polycystic kidney disease (PKD) causes fluid-filled cysts in the kidneys, leading to kidney damage and failure. […] PKD runs in families. It is an inherited disorder that is passed from parents to children through genes. […] Dominant inheritance If one parent has the disease and passes an abnormal gene to the child, it is called dominant inheritance. Each child has a 50% chance of getting the disease. […] This form of the disease is passed from parent to child by dominant inheritance. In other words, only one copy of the abnormal gene is needed to cause the disease. […] In April 2018, the FDA approved a new drug called tolvaptan for the treatment of autosomal dominant polycystic kidney disease (ADPKD).

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