Materiały źródłowe

• #1 Autosomal Dominant Polycystic Kidney Disease – NIDDK

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

  Health care providers usually diagnose ADPKD between the ages of 30 and 50, when signs and symptoms start to appear, which is why it is sometimes called adult PKD. […] Health care providers can diagnose people with PKD1 sooner because their symptoms appear sooner. […] The sooner a health care provider can diagnose ADPKD, the better your chances of delaying complications. […] Health care providers diagnose ADPKD using imaging tests and genetic testing. […] A health care provider may also use genetic testing results to find out whether someone with a family history of PKD is likely to develop PKD in the future. […] If you are considering genetic testing, you and your family may want to talk with a genetics counselor as part of your health care team.

• #2 Diagnosis – Polycystic kidney disease | PKD treatment research | PKD Foundation

  https://pkdcure.org/what-is-adpkd/how-is-adpkd-diagnosed/

  Autosomal dominant polycystic kidney disease (ADPKD) is typically diagnosed through a combination of medical history, physical examination, imaging tests, and genetic testing. […] The diagnosis of ADPKD may be challenging in some cases, particularly in individuals with few or no symptoms or in those without a family history of the disease. […] Medical History and Physical Examination: Your healthcare provider will inquire about your family history, as ADPKD is a genetic disorder. […] Imaging tests such as ultrasounds, CT scans, or MRI scans are used to visualize the kidneys and detect the presence of cysts. […] Genetic testing can confirm a diagnosis of ADPKD by identifying mutations in the PKD1 or PKD2 genes.

• #3

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

  Autosomal dominant polycystic kidney disease (ADPKD) tends to be diagnosed in adults over 30 years of age because symptoms do not usually start before then. […] When making a diagnosis, your GP will ask about your symptoms and your family’s medical history. […] Your GP may also arrange for some tests to be carried out. […] Your GP will also arrange for you to have an ultrasound scan to look for cysts in your kidneys or other organs, such as your liver. […] There are 2 methods that can be used to confirm a diagnosis of ADPKD. […] They are: using an ultrasound, CT or MRI scan to check for kidney abnormalities […] in special circumstances, using genetic blood tests to determine whether you have inherited one of the genetic faults known to cause ADPKD in your family but as these genetic tests are expensive and can be difficult to interpret, they’re not routinely carried out at present. […] It’s important to be aware that neither test is entirely accurate and may not always detect ADPKD, even if you have the condition. […] Genetic testing is more sensitive and accurate in diagnosing ADPKD, but may be negative in 10% of people with ADPKD.

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

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

  Ultrasound is the most reliable, inexpensive and non-invasive way to diagnose PKD. […] In some situations, genetic testing might also be done. This involves a blood test that checks for abnormal genes that cause the disease. Genetic testing is not recommended for everyone. The test is costly, and it also fails to detect PKD in about 15% of people who have it. However, genetic testing can be useful when a person: […] In April 2018, the FDA approved a new drug called tolvaptan for the treatment of autosomal dominant polycystic kidney disease (ADPKD). The drug can be used to help slow kidney function decline in adults at risk for this type of PKD.

• #5 Polycystic kidney disease – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/polycystic-kidney-disease/diagnosis-treatment/drc-20352825

  For polycystic kidney disease, certain tests can detect the size and number of kidney cysts you have. Tests also can show how much healthy kidney tissue you have. Tests include: […] MRI scan. As you lie inside a large cylinder, magnetic fields and radio waves show views of your kidneys. This method most often is used to know how badly PKD affects the kidneys, liver or pancreas. MRI can help measure total kidney volume, which helps healthcare professionals know more about your condition. […] Ultrasound. This involves putting a wandlike device called a transducer on your body. It gives off sound waves that go back to the transducer. A computer turns the sound waves into images of your kidneys. […] CT scan. You lie on a table that goes into a big, doughnut-shaped device. The device uses X-ray beams to show images of your kidneys. […] Early treatment offers the best chance of slowing the progress of polycystic kidney disease.

• #6 Polycystic Kidney Disease Workup: Approach Considerations, Ultrasonography, CT, MRI, and MRA

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

  Ultrasonography is the procedure of choice in the workup of patients with autosomal dominant polycystic kidney disease (ADPKD). It is also ideal for screening patients’ family members. […] Computed tomography (CT), magnetic resonance imaging (MRI), and magnetic resonance angiography (MRA) are useful in selected cases. […] Genetic testing is not part of regular clinical practice, but may be performed selectively. Genetic testing can accurately differentiate ADPKD, autosomal recessive polycystic kidney disease (ARPKD), and autosomal dominant polycystic liver disease (ADPLD). In ADPKD, the presence of either PKD1 or PKD2 subtypes changes the prognosis and may help guide clinical management. […] Genetic testing for ADPKD patients is not part of routine clinical practice. Molecular genetic testing approaches can include a multigene panel or genomic testing (exome or genome sequencing), depending on the phenotype. A multigene panel including PKD1, PKD2, ALG5, ALG9, DNAJB11, GANAB, IFT140 and other genes of interest is most likely to identify the genetic cause of the disease. […] Situations in which genetic testing is appropriate include the following: When a definitive diagnosis is required in young individuals, such as a potential living-related organ donor in an affected family with no clear imaging information.

• #7 Polycystic Kidney Disease (PKD): Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/5791-polycystic-kidney-disease

  Polycystic kidney disease (PKD) causes cysts (fluid-filled growths) to develop in your kidneys. PKD is a genetic disorder, meaning you have to have a mutated (changed) gene to get it. […] If you receive a PKD diagnosis, its important to work with your healthcare provider on a treatment plan to manage complications of the disease. […] A nephrologist (healthcare provider specializing in kidney disorders) usually diagnoses PKD. They may order the following imaging exams to check your kidneys: Kidney ultrasound, Prenatal ultrasound (to diagnose PKD in a fetus), CT scan (computed tomography scan), MRI (magnetic resonance imaging). […] A healthcare provider may also recommend genetic testing. A blood or saliva test can check for the mutated genes that cause PKD.

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

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

  Ultrasound diagnostic criteria for ADPKD, developed by Ravine et al, are very useful for identifying patients at risk of pathogenic variants in PKD1. The presence of fewer than 2 renal cysts has a negative predictive value of 100% and can be considered sufficient to exclude the disease in at-risk individuals over 40 years of age. The diagnosis of ADPKD is established by any of the following: […] As the Ravine criteria are less sensitive for individuals with mutations in PKD2, Pei et al proposed the following ultrasonographic diagnostic criteria for ADPKD due to either PKD1 or PKD2 mutations, to screen patients with a family history of ADPKD but unknown genotype: […] Indications for MRA are as follows: […] The Mayo Clinic calculator for ADPKD is a useful tool for predicting disease progression. Recommendations for assessing rapid progression of ADPKD have been provided by European experts. […] Patient education information is available at Living With Autosomal Dominant Polycystic Kidney Disease.

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

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

  Polycystic kidney disease is an inherited disease that involves bilateral kidney cysts. The condition is broadly divided into 2 forms: autosomal dominant polycystic kidney disease (ADPKD; see the image below) and autosomal recessive polycystic kidney disease (ARPKD). This article focuses on ADPKD; for full discussion of ARPKD, see Pediatric Polycystic Kidney Disease. However, note that although ADPKD was previously known as adult polycystic kidney disease and ARPKD was previously known as infantile polycystic kidney disease, those descriptions are not accurate, and that nomenclature is no longer used. […] ADPKD is the most frequent genetic cause of chronic kidney disease (CKD) in adults, accounting for 6-10 % of patients on dialysis in the United States. […] Genetic testing can be performed when a precise diagnosis is needed and the results of imaging testing are indeterminate. For example, genetic testing is indicated in individuals at risk for ADPKD who are being considered as potential kidney donors, and for screening embryos in preimplantation genetic diagnosis.

• #9 Polycystic kidney disease – Knowledge @ AMBOSS

  https://www.amboss.com/us/knowledge/polycystic-kidney-disease/

  Polycystic kidney disease (PKD) is an inherited disorder characterized by the development of multiple cysts in the kidneys. There are two forms of PKD: autosomal dominant (ADPKD) and autosomal recessive (ARPKD). […] Early diagnosis and treatment may prevent or delay ESRD in both conditions, but kidney transplant is the only curative treatment option. […] Preferred initial study: abdominal ultrasound. […] If ultrasound findings are unclear or presentation is atypical, obtain MRI (or CT) and genetic testing. […] Screen for extrarenal complications (e.g., hypertension, intracranial aneurysms) in patients with ADPKD. […] Monitor kidney function and CKD complications. […] Diagnostic criteria for patients with first-degree relatives with ADPKD: Children: 1 cyst (unilateral or bilateral).

• #10 POLYCYSTIC KIDNEY DISEASE | Harrison’s Manual of Medicine

  https://harrisons.unboundmedicine.com/harrisons/view/Harrisons-Manual-of-Medicine/623351/all/POLYCYSTIC_KIDNEY_DISEASE

  Autosomal dominant polycystic kidney disease (ADPKD) is the most common life-threatening monogenic genetic disorder, caused by autosomal dominant mutations in the PKD1 and PKD2 genes; it is a quantitatively important cause of ESRD. […] The diagnosis is usually made by ultrasonography. In a 15- to 29-year-old at-risk individual from a family with ADPKD, the presence of at least two renal cysts (unilateral or bilateral) is sufficient for diagnosis. […] Therefore, in at-risk individuals 30-59 years of age, the presence of at least two cysts in each kidney is required for the diagnosis; this increases to four cysts in each kidney for those aged 60. Conversely, the absence of at least two cysts in each kidney excludes the diagnosis of ADPKD in at-risk individuals between the ages of 30 and 59.

• #11 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. Renal ultrasonography is the diagnostic modality of choice to screen at-risk individuals for ADPKD. […] Although computed tomography and magnetic resonance imaging are slightly more sensitive for detecting renal cysts, ultrasonography is the preferred screening modality because of lower cost, increased availability, and lack of radiation exposure. […] Genetic testing is not standard practice in the diagnosis of ADPKD, but it is useful in certain scenarios, such as in a young at-risk patient who is asymptomatic and has negative findings on renal ultrasonography; in a patient with an unknown family history and a serendipitous finding of enlarged kidneys with renal cysts; and in an at-risk patient who wishes to be a kidney transplant donor.

• #12 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) in adults: Epidemiology, clinical presentation, and diagnosis […] The diagnosis of ADPKD should be suspected in patients with clinical features mentioned above and in those with a family history of ADPKD. […] The initial step toward diagnosis of ADPKD is to obtain a detailed family history from the patient. The diagnosis of ADPKD is confirmed primarily by imaging. […] Among patients with a family history of ADPKD, who are asymptomatic with normal kidney function, an ultrasound is usually sufficient to diagnose or rule-out the presence of disease. […] There are no established imaging-based criteria for diagnosis of ADPKD in patients without a family history. We diagnose these individuals with ADPKD if they have 10 or more cysts (≥5 mm) in each kidney, particularly if the kidneys are enlarged or liver cysts are noted, and obvious features of a different cystic disorder are absent. […] We perform genetic testing in the following scenarios: Imaging results uncertain, and need for a definitive diagnosis (eg, for a transplant donor). […] Diagnostic counseling by experienced staff is essential for all patients with suspected ADPKD prior to diagnostic testing.

• #13 Autosomal dominant polycystic kidney disease | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/autosomal-dominant-polycystic-kidney-disease-1?lang=us

  Autosomal dominant polycystic kidney disease (ADPKD), also sometimes referred to as adult polycystic kidney disease, is an inherited form of adult cystic renal disease. […] Genetic testing is costly, so diagnosis is commonly made by a combination of family history and cyst detection. Advances in technology mean that smaller cysts can be identified and this has led to suggestions to modify the criteria, e.g. two or more cysts in each kidney in US in an at-risk individual aged 30-40 years. High-resolution T2 FSE is highly sensitive for subcentimeter cysts and more objective. Ten or more cysts in the 16-49 year age group were found to have sensitivity and positive predictive value of 100% in at-risk individuals; a limit of five cysts can be used to identify suitable related renal donors. […] Diagnosis is usually made by imaging at-risk individuals. The height-adjusted total kidney volume for both kidneys and the quantity of remaining normal renal tissue are the best indicators of future renal function and the need for vasopressin receptor antagonists.

• #14 International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people | Nature Reviews Nephrology

  https://www.nature.com/articles/s41581-019-0155-2

  The objective of this Consensus Statement is to provide clinical guidance on counselling, diagnosing and monitoring children with ADPKD in light of the current evidence and a multi-stakeholder discussion of ethical issues surrounding early diagnosis and monitoring. […] The current gold standard for radiological diagnosis of ADPKD is renal ultrasonography. […] Ultrasonography is an inexpensive and non-invasive method of examination that is particularly suitable for children because of their smaller body size and the fact that the procedure does not require sedation or ionizing radiation. […] In a child under 15 years with a positive family history of ADPKD, sonographic detection of one or more kidney cysts is highly suggestive of ADPKD. […] If kidney ultrasonography is normal in an at-risk child, this finding does not exclude ADPKD.

• #14 International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people | Nature Reviews Nephrology

  https://www.nature.com/articles/s41581-019-0155-2

  These recommendations were systematically developed on behalf of the Network for Early Onset Cystic Kidney Disease (NEOCYST) by an international group of experts in autosomal dominant polycystic kidney disease (ADPKD) from paediatric and adult nephrology, human genetics, paediatric radiology and ethics specialties together with patient representatives. […] For asymptomatic minors at risk of ADPKD, ongoing surveillance (repeated screening for treatable disease manifestations without diagnostic testing) or immediate diagnostic screening are equally valid clinical approaches. Ultrasonography is the current radiological method of choice for screening. Sonographic detection of one or more cysts in an at-risk child is highly suggestive of ADPKD, but a negative scan cannot rule out ADPKD in childhood. Genetic testing is recommended for infants with very-early-onset symptomatic disease and for children with a negative family history and progressive disease.

• #14 International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people | Nature Reviews Nephrology

  https://www.nature.com/articles/s41581-019-0155-2

  We recommend offering genetic testing for cystic kidney disease genes to infants and children with very-early-onset (VEO) symptomatic disease independent of family history and to those with progressive disease (increasing cyst number or kidney volume) and a negative family history. […] In patients with a positive family history and unusually severe clinical course, genetic testing may be beneficial. […] We do not recommend genetic testing in patients with a single cyst, no extrarenal findings and a negative family history of autosomal dominant polycystic kidney disease (ADPKD).

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

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

  Ultrasound is usually sufficient for asymptomatic patients with normal renal function. […] Genetic testing for autosomal dominant polycystic kidney disease can be performed using direct DNA sequencing or by DNA gene linkage analysis. […] Genetic testing may also be used to confirm an ADPKD diagnosis when clinical factors and imaging are inconclusive. […] The primary indication for genetic testing is in young adults with negative ultrasonographic findings who have a family history suggestive of ADPKD and are being evaluated as potential kidney donors, considering having children or becoming pregnant. […] The Renal Association Clinical Practice Guidelines recommend that parents or caregivers of individuals with ADPKD should receive education regarding the risk of inheriting ADPKD.

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

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

  Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of end-stage kidney disease (ESKD) worldwide, affecting approximately 500,000 people in the United States alone. […] This activity describes the epidemiology, genetics, clinical presentation, and management of ADPKD, providing healthcare professionals with the knowledge and tools to improve patient care for this complex and prevalent condition. […] Implement a systematic screening protocol for ADPKD, including regular imaging studies and genetic testing, in patients with a family history of the disease. […] The diagnosis of autosomal dominant polycystic kidney disease is usually made by a combination of a positive family history, imaging with ultrasonography and/or CT scans, and clinical findings like hypertension and/or renal failure.

• #16 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. […] ADPKD commences in utero but there may be several decades before symptoms or signs of disease emerge. Screening offers a means of detecting asymptomatic individuals. There should be appropriate counselling prior to screening. […] Genetic testing can be done by linkage or sequence analysis: […] Genetic testing can be used to assist diagnosis when imaging results are equivocal or when a definite diagnosis is required in a younger individual – eg, prior to becoming a potential living related kidney donor. […] Diagnosis of ADPKD has implications both for the patient and for their family. […] The TEMPO (Tolvaptan Efficacy and Safety in Management of Autosomal Dominant Polycystic Kidney Disease and Its Outcomes) 3:4 trial, showed that the vasopressin receptor antagonist tolvaptan slowed the growth of cystic kidneys and the deterioration of renal function. Consequently, the European Medicines Agency in 2015 approved tolvaptan to slow the progression of cyst development and renal insufficiency in ADPKD in adults with CKD stages 1-3 at initiation of treatment and evidence of rapidly progressing disease. […] The diagnosis is supported by hepatic or pancreatic cysts. These criteria approach 100% sensitivity for individuals aged 30 years or more and for younger patients with PKD1 mutations. However, they are only 67% sensitive for those with PKD2 mutations who are younger than 30.

• #17 ADPKP – Overview: Focused Autosomal Dominant Polycystic Kidney Disease Gene Panel, Varies

  https://www.mayocliniclabs.com/test-catalog/overview/618002

  Two genes, PKD1 and PKD2, account for the majority of cases of ADPKD, with approximately 78% of cases being attributed to disease-causing variants in the PKD1 gene and approximately 15% of cases being attributed to disease-causing variants in the PKD2 gene. […] The lifetime penetrance of bilateral cysts is close to 100% in individuals with ADPKD, but disease manifestation is typically age-dependent and gene-dependent. […] Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Misinterpretation of results may occur if the information provided is inaccurate or incomplete. […] If testing was performed because of a clinically significant family history, it is often useful to first test an affected family member. Detection of a reportable variant in an affected family member would allow for more informative testing of at-risk individuals. […] To discuss the availability of additional testing options or for assistance in the interpretation of these results, contact the Mayo Clinic Laboratories genetic counselors at 800-533-1710.

• #17 ADPKP – Overview: Focused Autosomal Dominant Polycystic Kidney Disease Gene Panel, Varies

  https://www.mayocliniclabs.com/test-catalog/overview/618002

  Providing a genetic evaluation for patients with a personal or family history suggestive of autosomal dominant polycystic kidney disease […] Establishing a diagnosis of autosomal dominant polycystic kidney disease […] This test utilizes next-generation sequencing to detect single nucleotide, small deletion-insertion, and copy number variants in 8 genes associated with autosomal dominant polycystic kidney disease (ADPKD): ALG8, ALG9, DNAJB11, GANAB, HNF1B, PKD1, PKD2, UMOD. […] Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for ADPKD. […] Autosomal dominant polycystic kidney disease (ADPKD) typically manifests in adulthood and is primarily characterized by bilateral kidney cysts, liver cysts, and an increased risk for intracranial aneurysm.

• #18 ADPKP – Overview: Focused Autosomal Dominant Polycystic Kidney Disease Gene Panel, Varies

  https://www.mayocliniclabs.com/test-catalog/Overview/618002

  Providing a genetic evaluation for patients with a personal or family history suggestive of autosomal dominant polycystic kidney disease […] Establishing a diagnosis of autosomal dominant polycystic kidney disease […] Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for ADPKD. […] Autosomal dominant polycystic kidney disease (ADPKD) typically manifests in adulthood and is primarily characterized by bilateral kidney cysts, liver cysts, and an increased risk for intracranial aneurysm. […] Two genes, PKD1 and PKD2, account for the majority of cases of ADPKD, with approximately 78% of cases being attributed to disease-causing variants in the PKD1 gene and approximately 15% of cases being attributed to disease-causing variants in the PKD2 gene.

• #19 Molecular diagnosis of autosomal dominant polycystic kidney disease | Nefrología

  https://revistanefrologia.com/en-molecular-diagnosis-autosomal-dominant-polycystic-articulo-X2013251411051277

  In total, sequence variants with a high probability of pathogenic mutations can be identified in 91% of families. […] The current status of genetic diagnosis of autosomal dominant polycystic kidney disease […] In general, genetic testing for ADPKD is not recommended when the clinical and imaging diagnosis is clear, because it is very expensive and in many cases, does not provide relevant information. […] The genetic diagnosis of ADPKD is not extensively indicated due to the cost and current technical complexity of determining whether the changes detected in the DNA sequence are actually pathogenic mutations. […] Direct genetic diagnosis of ADPKD is now possible in Spain, although the analysis is not easy or cheap due to the characteristics of the PKD1 gene. Each case must be considered individually to determine whether genetic testing should be carried out and what type of study is appropriate. This type of diagnosis is of particular interest to living donors and in neonatal and sporadic cases. Genetic testing offers the chance of performing prenatal or pre-implantation testing in families with severe cases of the disease. Also, this will enable the disease to be treated, when specific treatment becomes available, in unconfirmed cases that would not be candidates for treatment if it was not for genetic confirmation.

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

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

  Autosomal dominant inheritance pattern […] In an autosomal dominant disorder, the changed gene is a dominant gene. It’s located on one of the nonsex chromosomes, called autosomes. Only one changed gene is needed for someone to be affected by this type of condition. A person with an autosomal dominant condition in this example, the father has a 50% chance of having an affected child with one changed gene and a 50% chance of having an unaffected child. […] 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. […] 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. […] 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. […] Diagnosis treatment

• #21 Patient education: Polycystic kidney disease (Beyond the Basics) – UpToDate

  https://www.uptodate.com/contents/polycystic-kidney-disease-beyond-the-basics

  POLYCYSTIC KIDNEY DISEASE DIAGNOSIS — […] It is usually easy to diagnose autosomal dominant polycystic kidney disease (ADPKD) in people who develop flank or abdominal pain and in those who have a family history of ADPKD. An imaging study, such as an ultrasound, is recommended as the first diagnostic test and may reveal multiple cysts on both kidneys. Kidneys are usually enlarged but may be of normal size in the early stages. Cysts may also be seen in the liver, pancreas, and spleen. […] […] In people without a family history, ADPKD may be more difficult to diagnose. The diagnosis of PKD may first be suspected based on an imaging test, such as an ultrasound, performed for some other reason. The family history may be negative either because family members developed symptoms at a later age and died of other causes before ADPKD was diagnosed or because a new mutation has occurred (which is the case in 15 percent of patients with ADPKD). If the family history is negative, the diagnosis of ADPKD can be made using information on the number of cysts present in the kidneys in relation to the patient’s age (as described above) and the presence of other clinical findings (such as liver cysts). Rarely, in cases where the imaging diagnosis is not straightforward, genetic testing would need to be performed. The availability and affordability of genetic testing has dramatically improved.

• #22

  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. […] Read more about the symptoms of ADPKD and diagnosing ADPKD. […] 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. […] A medication called tolvaptan can be used to slow down the formation of cysts and protect kidney function.

• #23 Pathology Pearls: Autosomal dominant polycystic kidney disease/ Polycystic Liver Disease | AASLD

  https://www.aasld.org/liver-fellow-network/core-series/pathology-pearls/pathology-pearls-autosomal-dominant-polycystic

  Although at the time of resection, there was no reported family history of adult polycystic kidney disease, the bilateral polycystic kidneys and liver cysts without other specific cystic disorders are sufficient to render the diagnosis of Polycystic Liver Disease as part of a component of Autosomal Dominant Polycystic Kidney Disease. However, genetic counseling is still essential. […] Clinical presentation of ADPKD includes hypertension, hematuria, proteinuria, kidney function impairment, and mass effect. In patients with a family history of ADPKD, imaging alone is sufficient for diagnosis. In patients without a family history, 10 or more cysts (5 mm) in each kidney or liver cysts without obvious features of a different cystic disorder are highly suspicious for ADPKD. Genetic testing by sequencing would be ideal to confirm the diagnosis.

• #24 Symptoms and testing in children

  https://pkdcharity.org.uk/adpkd/children-and-adkpd/symptoms-and-testing-in-children

  How is ADPKD diagnosed? […] Children with a close relative who has ADPKD can usually have a kidney scan or blood test to check for ADPKD. […] Tests are available to check for ADPKD in children and adults. […] There are two tests that can be used to diagnose ADPKD: an ultrasound scan and a test to look for ADPKD genes. […] Using ultrasound they can check for kidney cysts in children. […] If your child has a close relative with ADPKD and more than one cyst is seen on their ultrasound scan, it’s very likely that they have ADPKD. […] A person can be tested to see whether they have a faulty PKD gene. […] If the precise gene alteration causing ADPKD in other family members is already known, a genetic or genomic test can say for sure whether or not your child has ADPKD. […] When a parent has ADPKD, they often ask us whether or not they should get their child tested.

• #25 ADPKD: Symptoms, Treatment, Screenings, Diagnosis, and More

  https://www.healthline.com/health/adpkd/everything-to-know-symptoms-treatments

  Autosomal dominant polycystic kidney disease (ADPKD) is a chronic condition that causes cysts to grow in the kidneys. Its the most common genetic kidney disorder. […] This condition is sometimes called adult PKD because people with ADPKD typically receive their diagnosis between the age of 30 and 50, when signs and symptoms start to appear. […] Up to 1 in 4 people with ADPKD develops the condition without having a known family history. […] People can also develop ADPKD with no or unknown family history. In a 2017 study of ADPKD, 15.3% of the people developed the condition spontaneously and without a clear cause. […] A person who develops ADPKD spontaneously can pass the mutated gene on to their children in the same way as someone whos inherited it from a parent. […] To diagnose ADPKD, your doctor will ask you about: your symptoms, personal medical history, family medical history.

• #26 Autosomal dominant polycystic kidney disease – Wikipedia

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

  Usually, the diagnosis of ADPKD is initially performed by renal imaging using ultrasound, CT scan, or MRI. […] However, molecular diagnostics can be necessary in the following situations: when a definite diagnosis is required in young individuals, such as a potential living related donor in an affected family with equivocal imaging data; in patients with a negative family history of ADPKD, because of potential phenotypic overlap with several other kidney cystic diseases; in families affected by early-onset polycystic kidney disease, since in this cases hypomorphic alleles and/or oligogenic inheritance can be involved; and in patients requesting genetic counseling, especially in couples wishing a pre-implantation genetic diagnosis. […] The findings of large echogenic kidneys without distinct macroscopic cysts in an infant/child at 50% risk for ADPKD are diagnostic. In the absence of a family history of ADPKD, the presence of bilateral renal enlargement and cysts, with or without the presence of hepatic cysts, and the absence of other manifestations suggestive of a different renal cystic disease provide presumptively, but not definite, evidence for the diagnosis.

• #27 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

  CT or MRI are often done after establishing the diagnosis of ADPKD. […] Genetic testing for polycystic kidney disease (PKD) mutations is currently reserved for any of the following: Patients with suspected PKD and no known family history, Patients with inconclusive results on imaging, Younger patients (eg, age 30, in whom imaging results are often inconclusive) in whom the diagnosis must be made (eg, a potential kidney donor). […] Genetic counseling is recommended for first-degree relatives of patients with ADPKD.

• #28

  https://www.healio.com/news/primary-care/20210908/diagnosing-autosomal-dominant-polycystic-kidney-disease

  Each year, millions of Americans take charge of their health by visiting their primary care provider for a periodic check-up or health maintenance visit. […] For patients with ADPKD, early diagnosis is an important step in effectively managing their condition and delaying disease progression. […] There are no formal screening guidelines for ADPKD to aid physicians in spotting the various early warning signs, such as blood in the urine, high BP and back pain. […] High BP is the most common sign of ADPKD, affecting as many as 60% of patients with ADPKD. […] In ADPKD, high BP both precedes and goes hand-in-hand with kidney enlargement and is a significant independent risk factor for progression to end-stage renal disease. […] Providers should ask every patient about their familys history with kidney disease, especially if they detect high BP or any other early indicators of possible kidney disease.

• #28

  https://www.healio.com/news/primary-care/20210908/diagnosing-autosomal-dominant-polycystic-kidney-disease

  With greater awareness about ADPKD, referral for kidney imaging and kidney function testing may lead to expedited care even before the patient reaches a nephrologist. […] Due to advances in the field, there are steps that may be taken by both patients and health care providers to help manage this disease even at early stages. […] Still, more needs to be done to help provide the larger health care community with the necessary tools and rules to screen and diagnose individuals at risk for ADPKD. […] Formal screening guidelines to be developed and implemented as part of routine care would guide providers with tangible steps to understanding this rare disease.

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

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

  Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of renal failure worldwide. […] The diagnosis of autosomal dominant polycystic kidney disease is usually made by a combination of a positive family history, imaging with ultrasonography and/or CT scans, and clinical findings like hypertension and/or renal failure. […] Genetic testing for autosomal dominant polycystic kidney disease can be performed using direct DNA sequencing or by DNA gene linkage analysis (which requires samples from at least three family members, including some with and without ADPKD). […] The primary indication for genetic testing is in young adults with negative ultrasonographic findings who have a family history suggestive of ADPKD and are being evaluated as potential kidney donors, considering having children or becoming pregnant.

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