Materiały źródłowe

• #1 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.

• #2 What Is Polycystic Kidney Disease? – NIDDK

  https://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/what-is-pkd

  Polycystic kidney disease (PKD) is a genetic disorder that causes many fluid-filled cysts to grow in your kidneys. […] A gene mutation, or defect, causes PKD. In most PKD cases, a child got the gene mutation from a parent. In a small number of PKD cases, the gene mutation developed on its own, without either parent carrying a copy of the mutated gene. This type of mutation is called spontaneous.

• #3 Polycystic Kidney Disease (PKD) in Children | Boston Children’s Hospital

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

  Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous cysts filled with fluid in the kidneys. These cysts can reduce the kidney’s ability to function, leading to kidney failure. […] PKD can cause cysts in the liver and problems in other organs, such as the heart and blood vessels in brain. […] PKD is the fourth leading cause of kidney failure and affects about 500,000 people in the United States. […] According to the National Institute of Diabetes and Digestive and Kidney Diseases, about one-half of people with autosomal dominant PKD progress to kidney failure, or end-stage renal disease. […] There are three major types of PKD: Autosomal dominant PKD (inherited), Autosomal recessive PKD (inherited), and Acquired cystic kidney disease, or ACKD (non-inherited).

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

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

  Autosomal recessive polycystic kidney disease (ARPKD). This type is far less common than is ADPKD. The symptoms often appear soon after birth. Sometimes, symptoms don’t appear until later in childhood or during the teen years. […] The biggest risk factor for getting polycystic kidney disease is getting the gene changes that cause the disease from one or both parents.

• #5 Polycystic kidney disease: symptoms, treatments, causes and diagnosis

  https://www.kidneyresearchuk.org/conditions-symptoms/polycystic-kidney-disease/

  Polycystic kidney disease (PKD) is the name for a range of life-threatening inherited disorders that can cause kidney failure and damage to other organs. […] Faulty genes cause fluid-filled cysts to develop and grow in the kidneys. […] The two major forms of PKD are: Autosomal dominant polycystic kidney disease (ADPKD) and Autosomal recessive polycystic kidney disease (ARPKD). […] ADPKD is caused by mutations in genes called PKD1 and PKD2. […] ARPKD is a rare condition caused by a genetic fault that disrupts normal development of the kidneys and liver.

• #6 Polycystic Kidney Disease: Symptoms, Diagnosis, and Treatment

  https://www.healthline.com/health/polycystic-kidney-disease

  Polycystic kidney disease (PKD) is an inherited disorder that causes fluid-filled cysts to form in the kidneys, leading to impaired kidney function and potential kidney failure. […] PKD is generally inherited. Less commonly, it develops in people who have other serious kidney problems. There are three types of PKD. […] Autosomal dominant (ADPKD) is sometimes called adult PKD. According to the National Kidney Foundation, it accounts for about 90 percent of cases. […] Autosomal recessive PKD (ARPKD) is much less common than ADPKD. Its also inherited, but both parents must carry the gene for the disease. […] Acquired cystic kidney disease (ACKD) isnt inherited. It usually occurs later in life. […] ACKD usually develops in people who already have other kidney problems. Its more common in people who have kidney failure or are on dialysis.

• #7 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 the PKD1, PKD2, and PKHD1 genes cause polycystic kidney disease. […] 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. […] Mutations in the PKHD1 gene cause autosomal recessive polycystic kidney disease. […] Although polycystic kidney disease is usually a genetic disorder, a small percentage of cases are not caused by gene mutations. These cases are called acquired polycystic kidney disease.

• #8

  https://www.nhs.uk/conditions/autosomal-recessive-polycystic-kidney-disease-arpkd/

  ARPKD is caused by a genetic fault that disrupts normal development of the kidneys and liver. […] ARPKD is caused by a genetic alteration in the gene PKHD1, which in most cases is passed on to a child by their parents. […] If both parents carry a faulty version of this gene, there’s a 1 in 4 chance of each child they have developing ARPKD.

• #9 Polycystic Kidney Disease: Causes, Symptoms, and Treatment

  https://resources.healthgrades.com/right-care/kidneys-and-the-urinary-system/polycystic-kidney-disease

  Some people also develop cysts on their kidneys due to long-term damage or severe scarring in the kidneys. This is known as acquired cystic kidney disease (ACKD). […] Currently, there is no way to prevent PKD. […] The biggest risk factor for developing PKD is having a family history of the condition. […] In most cases, PKD occurs due to hereditary genetic variations.

• #10 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.

• #11 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.

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

  https://pkdcure.org/what-is-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. […] Mutations of the PKD1 or PKD2 gene create cells with abnormal functions and ultimately result in the cyst growth common in ADPKD. […] Patients with PKD1 mutations have bigger kidneys, more kidney related complications, and require dialysis at an earlier age compared to those with PKD2 mutations. […] More recent studies also identified a subset of PKD1 patients with milder kidney disease in which their mutations do not seem to completely inactivate polycystin-1 function.

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

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

  PKD2 codes for PC2, a 968 amino acid protein that is structurally similar to PC1 and co-localizes to the primary cilia of renal epithelial cells. It is a member of the family of voltage-activated calcium channels. […] There is a genotype-phenotype correlation for PKD1 mutations. Truncating mutations cause a more severe phenotype than non-truncating ones. […] In general, patients with PKD1 pathogenic variants present with more severe disease than patients with PKD2 pathogenic variants. The mean age of requiring kidney replacement therapy is 53 years in patients with PKD1 pathogenic variants, but is 74 years in patients with PKD2 pathogenic variants. […] 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.

• #13 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. […] PKD1 codes for a 4304 amino acid protein, polycystin 1 (PC1). The function of PC1 is not yet fully defined, but this protein interacts with polycystin 2 (PC2) and is involved in cell cycle regulation and intracellular calcium transport.

• #14 Orphanet: Autosomal dominant polycystic kidney disease

  https://www.orpha.net/en/disease/detail/730

  Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disease, with estimated prevalence of 1/2,500 in Europe. […] Mutations in PKD1(16p13.3) and PKD2(4q22.1) account for approximately 78% and 15% of affected individuals, respectively. The remaining ~7% of cases are genetically unresolved or are due to mutations in other recently identified genes, such as GANAB(11q12.3), DNAJB11 and ALG9, involved in the maturation and trafficking of the polycystins. […] The pattern of inheritance is autosomal dominant. The risk of inheriting the disease from an affected individual is 50%. However, penetrance is incomplete and intra-familial phenotypes can vary in progression and severity. PKD1 mutations are associated with more severe disease, larger kidneys, earlier onset and earlier development of ESKD, than PKD2 mutations. GANAB mutations are associated with mild cystic disease, usually without decline in kidney function. Mutations arising de novo are possible.

• #15 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).

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

  https://pkdcure.org/what-is-adpkd/what-causes-adpkd/

  Patients with PKD2 mutations not only have a milder disease but a later onset of symptoms which can lead to delayed diagnosis. […] DNAJB11 and IFT140 mutations can also be a rare cause of atypical ADPKD, and other mutations are being studied. […] 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. […] The reason we call this form of PKD dominant is because it can only take one copy of the mutated PKD1 or PKD2 gene from one parent to cause ADPKD. […] 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.

• #17 Polycystic kidney disease – Symptoms, Causes, Types,Treatment PACE Hospitals – Best Hospitals in Hitech City, Hyderabad, India | Near Madhapur, Kukatpally, KPHB, Kondapur, Gachibowli, Jubilee Hills, Banjara HillsPACE Hospitals Contact Num

  https://www.pacehospital.com/polycystic-kidney-disease-types-symptoms-causes-prevention-treatment

  Polycystic kidney disease (PKD) is a potentially lethal hereditary condition that is characterized by the development of fluid-filled cysts, in the kidneys. […] A genetic mutation, typically inherited from one’s parents, is the cause of this illness. […] About 90% of ARPKD cases occur due to the mutation of PKHD1 gene on chromosome 6p12. […] Two genes have been identified that are involved in mutations that cause ADPKD. Fifteen percent of ADPKD instances are caused by mutations in PKD2 gene on chromosome 4q21, while eighty-five percent are caused by mutations in PKD1 gene on chromosome 16p13.3.

• #18 What Is Polycystic Kidney Disease?

  https://www.icliniq.com/articles/kidney-and-urologic-diseases/polycystic-kidney-disease

  Polycystic kidney disease is a genetically inherited disorder with dominant and recessive inheritance patterns. It is characterized by numerous cysts in the kidneys, causing kidney enlargement. […] Autosomal dominant and recessive polycystic kidney show different etiologies and is discussed below: […] Autosomal Dominant Polycystic Kidney Disease: It is associated with a mutation in the PKD1, which codes for polycystin 1, and PKD2 genes, which code for polycystin two, respectively. 85 % of ADPKD is caused due to PKD1 mutation, and the rest, 15 %, is due to PKD2 mutation. Few studies have reported the alteration in DNAJB11 and GANAB genes, which need further evidence to be documented. […] Autosomal Recessive Polycystic Kidney Disease: It is the less common type presenting with underdeveloped kidneys, and it is caused due to mutation in the PKHD1 gene, which codes for fibrocystin.

• #19 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. […] A genetic disease can happen if one or both parents pass abnormal genes to a child. This happens through something called dominant inheritance or recessive 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. […] If both parents carry the abnormal gene, and both parents pass an abnormal gene to the child, it is called recessive inheritance. In this situation, every child has a 25% chance of getting the disease.

• #20 Polycystic Kidney Disease: Causes, Symptoms, and Treatment

  https://resources.healthgrades.com/right-care/kidneys-and-the-urinary-system/polycystic-kidney-disease

  ADPKD has a dominant inheritance pattern. This means if only one out of two biological parents carries a variation in their PKD1 or PKD2 genes, each child they have together has a 1 in 2 chance of developing ADPKD. […] In some cases, ADPKD develops without a clear family history of the condition. This can be because biological family members never received a diagnosis of ADPKD, even though they had it. […] Less often, ADPKD develops for the first time in a person with no family history. Experts are still researching why this happens. […] Variations in the PKHD1 gene cause ARPKD. […] ARPKD has a recessive inheritance pattern, meaning a child will only develop the condition if they inherit two copies of the genetic variation: one from each biological parent. […] If both biological parents carry the genetic variation for ARPKD, there is a 1 in 4 chance of each child they have developing ARPKD.

• #21 Polycystic Kidney Disease | Ausmed

  https://www.ausmed.com/learn/articles/polycystic-kidney-disease

  An autosomal recessive inheritance pattern means that two copies of the mutated gene are needed to cause PKD. In other words, the condition can only be inherited if both parents are carrying the mutated gene and the child inherits one mutated gene from each parent. One mutated gene is not enough to cause PKD alone – instead, the child will become an asymptomatic carrier. The likelihood of inheriting two copies of the mutated gene is 25% (Mayo Clinic 2020).

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

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

  DNAJB11 and IFT140 mutations can also be a rare cause of atypical ADPKD, and other mutations are being studied. […] 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.

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

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

  Polycystic kidney disease causes fluid-filled sacs called cysts to grow in the kidneys. This disease is caused by a gene mutation, usually passed down by a parent. […] 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.

• #24 ADPKD basics

  https://pkdcharity.org.uk/adpkd/what-is-adpkd/adpkd-basics

  ADPKD is usually inherited and occurs when gene alterations are passed from a parent to their child. […] ADPKD is most commonly caused by an alteration in a gene called PKD1 or a gene called PKD2. […] Most people get the disease when they inherit an altered copy of PKD1 or PKD2 from a parent with ADPKD. […] PKD1 mutations are more common: about 78 out of every 100 people with ADPKD (78%) have an alteration in this gene. […] About 14 out of every 100 people (14%) have an altered PKD2 gene. […] Sometimes, a new alteration in a PKD1 or PKD2 gene occurs by chance in the womb, causing an infant to be born with ADPKD despite having two healthy parents. […] This is called a spontaneous or de novo mutation and occurs in about 1 in 10 people with ADPKD.

• #25 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. […] 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. […] Ninety percent of PKD cases are autosomal dominant. In the rarer autosomal recessive version of PKD, the cysts start to form in infancy or even in the womb. […] 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.

• #26 Pathophysiology of PKD – CORE Kidney | UCLA Health

  https://www.uclahealth.org/programs/core-kidney/pathophysiology-pkd

  Recent evidence suggests that the primary abnormality leading to cyst formation in both the autosomal dominant and recessive forms of PKD is related to defects in cilia-mediated signaling activity. […] In a 2009 review of the pathogenesis of PKD, Patel et al discuss the accumulating evidence supporting the role of the primary cilium in PKD. […] The role of PCP in the etiology of PKD was originally demonstrated by Fischer et al who found that PCK rats (carrying mutations in PKHD1), had randomized patterns of cell division, contributing to tubular dilation and cyst formation. […] Accordingly, with mutations in PKD1, PKD2, or PKHD1, function of the primary cilium is impaired, resulting in disruption of a number of intracellular signaling cascades that produce dedifferentiation of cystic epithelium, increased cell division, increased apoptosis, and loss of resorptive capacity. […] Vascular manifestations of ADPKD are thought to also be related to abnormal functioning of polycystin-1 and polycystin-2, which additionally have been found to be expressed in vascular smooth muscle and endothelium.

• #27 Polycystic kidney disease – Wikipedia

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

  Both autosomal dominant and autosomal recessive polycystic kidney disease cyst formation are tied to abnormal cilia-mediated signaling. […] The disease is characterized by a 'second hit’ phenomenon, in which a mutated dominant allele is inherited from a parent, with cyst formation occurring only after the normal, wild-type gene sustains a subsequent second genetic 'hit’, resulting in renal tubular cyst formation and disease progression. […] PKD results from defects in the primary cilium, an immotile, hair-like cellular organelle present on the surface of most cells in the body, anchored in the cell body by the basal body.

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

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

  This is the most common inherited cause of serious renal disease. It is an autosomal dominant condition and is thought to be of high or complete penetrance. […] About 85% are designated as PKD1 with an abnormality on chromosome 16. 15% are PKD2 with an abnormality on chromosome 4. A PKD3 has also been described. However, the gene locus is not yet identified. PKD1 and PKD2 cause mutations in polycystin 1 and 2 respectively. Polycystins regulate tubular and vascular development in the kidneys but also in other organs including the liver, brain, arterial blood vessels and pancreas, causing extra-renal manifestations of the disease. […] Familial transmission is normal for polycystic kidney disease; de novo mutation occurs in only about 5% of cases, although at the time of diagnosis (before familial case finding) 25% will not know of a family history of the disease.

• #29 Autosomal dominant polycystic kidney disease (ADPKD) | Kidney Care UK

  https://kidneycareuk.org/kidney-disease-information/kidney-conditions/autosomal-dominant-polycystic-kidney-disease-adpkd/

  Autosomal dominant polycystic kidney disease (ADPKD) is a genetic condition caused by an abnormality or mutation in one of two genes, PKD1 or PKD2. […] Most people get ADPKD when they inherit a faulty copy of one of these genes from a parent. […] One copy of the faulty gene is enough to cause the condition. […] There is therefore a one in two chance that a child born to an affected person will receive the abnormal gene and eventually develop ADPKD themselves. […] In ADPKD, cysts develop as swellings along the tubule. These then multiply and grow until they stop the nephron from working. The healthy kidney tissue gets squished by the growing cysts. This eventually affects the kidneys ability to filter the blood properly, leading to kidney damage.

• #30 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 is characterized by the accumulation of many fluid-filled cysts on the kidney(s). Over time, the cysts get larger and larger and triggers a decline in kidney function. The cysts damage the kidney by blocking the flow of urine and causes inflammation. As PKD progresses, the kidneys gradually lose their ability to work effectively. […] 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. Over time the fluid-filled cysts may get larger and larger causing the kidneys to become larger in size. 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.

• #31 Unraveling the Mysteries of Polycystic Kidney Disease

  https://ouhsc.edu/News/details/unraveling-the-mysteries-of-polycystic-kidney-disease

  In other words, we know the result of mutated genes, but we dont know the cellular process by which this disease develops. […] To address these questions, Tsiokas and Maulin Patel, Ph.D., a postdoctoral research fellow in Tsiokas’ lab, are zeroing in on Fbxw7, a gene known to play an important role in basic cellular functions that could be linked to cystogenesis, fibrosis, and cellular death and regeneration. […] Tsiokas speculated that by genetically deleting Fbxw7 in a mouse model used to study kidney function, he could re-create the process of cystogenesis in mice. […] When Fbxw7 is deleted, we found that (those) mice develop slowly progressing cystic kidney disease without kidney enlargement, tubulointerstitial fibrosis, tubular degeneration, and a progressive decline in kidney function, Tsiokas said.

• #32 Unraveling the Mysteries of Polycystic Kidney Disease

  https://ouhsc.edu/News/details/unraveling-the-mysteries-of-polycystic-kidney-disease

  Importantly, the changes observed are cardinal features of several types of PKD, including nephronophthisis (NPHP), a genetic kidney disorder that affects children. […] Further study of the mice with the Fbxw7 gene deletion revealed that renal function declines were connected to an abnormal accumulation of a protein called SOX9. […] Tsiokas said these findings offer the first conclusive evidence of the genes that directly modulate fibrocystic diseases of the kidney and are an essential step in efforts to identify druggable targets for genetic forms of cystic kidney disorders. […] Future work will seek to catalog how cystogenesis develops, how it is modulated by fibrosis or tubular degeneration, and how these processes interact to impact renal function. […] Understanding these processes will give us fresh ideas of how to delve further into the mechanisms of the pathogenesis of cystic kidney disease and how we might treat it, he said.

• #33 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 for progressive kidney disease in ADPKD include the causative gene mutation within the context of family history, male sex, onset of symptoms at an early age, kidney size, presence of hypertension, proteinuria, and high urinary sodium excretion.

• #34 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. […] There is great inter-familial and intra-familial variability in the severity of renal and extra-renal manifestations; however, around 50% will be in end-stage kidney disease and require dialysis or transplantation by the age of 60 in PKD1 and the age of 75 in PKD2. Risk factors for progression include: PKD1 genotype, multiple pregnancies, Afro-Caribbean race, male sex, younger age of onset, large kidneys, hypertension.

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

  https://pkdcure.org/what-is-adpkd/what-causes-adpkd/

  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. […] Its important to note that some individuals (especially those with a PKD2 or non-inactivating PKD1 mutation) are more likely to live a normal life span and die of other causes before theres a need for dialysis or transplantation. […] Significant kidney disease variability within ADPKD families suggest other genetic and environmental factors can modify the severity of this disease.

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

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

  Therefore, ADPKD is divided into two subtypes – ADPKD I (about 17 in 20 cases), ADPKD 2 (about 3 in 20 cases). […] The disease develops very slowly and therefore symptoms and problems usually do not develop until adulthood. […] The cysts press on the normal parts of the kidney and gradually replace much of the normal kidney tissue. […] 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. […] Although the kidneys are the main site affected, cysts may also develop in other parts of the body. […] Up to 1 in 10 people with ADPKD develop an aneurysm in a brain artery. […] About 1 in 5 people with ADPKD develop mitral valve prolapse.

• #37 A Brief Note on Polycystic Kidney Disease (PKD)

  https://www.openaccessjournals.com/articles/a-brief-note-on-polycystic-kidney-disease-pkd-15580.html

  Clusters of cysts form largely within your kidneys as a result of polycystic kidney disease (PKD), a genetic ailment that over time causes your kidneys to expand and become less functional. […] A hereditary condition in which kidney cyst clusters form. […] The two primary forms of polycystic kidney disease, each brought on by a unique genetic defect, are as follows: Autosomal dominant polycystic kidney disease (ADPKD) and Autosomal recessive polycystic kidney disease (ARPKD). […] To pass on this version of the disease, both parents must have genetic abnormalities. […] Polycystic kidney disease-related complications include high blood pressure, loss of kidney function, chronic pain, growth of cysts in the liver, development of an aneurysm in the brain, pregnancy complications, heart valve abnormalities, and colon problems. […] A genetic counselor can assist you in determining your risk of passing on polycystic kidney disease to your children if you have the condition and are thinking about becoming a parent.

• #38 Polycystic Kidney Disease (PKD) – Dialysis Patient Citizens Education Center

  https://www.dpcedcenter.org/news-events/news/polycystic-kidney-disease-pkd/

  There is no cure for ADPKD, but a new treatment is available that has been shown to slow the progression of ADPKD to kidney failure. […] Data from 2 clinical studies that included over 3000 patients with ADPKD showed that tolvaptan slows kidney function decline in adults who are at risk for disease progression, based on kidney size for a given age and kidney function. […] This is the only FDA-approved treatment that works to slow the decline of kidney function.

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