Materiały źródłowe

• #1 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.

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

  https://pkdcure.org/about-the-disease/adpkd/diagnosis/

  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. […] 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 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. […] 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. […] Theres no cure for PKD. The goal of treatment is to slow the progression of the disease and control the symptoms it causes.

• #4 Diagnosis and Treatment Modalities of Symptomatic Polycystic Kidney Disease – Polycystic Kidney Disease – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK373387/

  Currently, molecular testing is recommended for individuals under the age of 30 at risk of being affected by PKD and with less than 3 renal cysts on ultrasound. […] Ultrasonography is the most cost-effective radiological modality for the diagnosis of PKD while MRI should be used when ultrasound is inconclusive. […] The following diagnostic criteria are used for patients suspected with PKD according to their age: For patients aged 15-39 years the presence of 3 or more unilateral or bilateral cysts has a sensitivity of 0.7 and specificity of 1, positive predictive value of 1 and negative predictive value of 0.7. […] For patients aged 40-59 the presence of 2 or more unilateral or bilateral cysts has a sensitivity of 1, specificity of 0.9, positive predictive value of 0.9 and negative predictive value of 1.

• #5 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). […] Ultrasonography is the most widely used imaging technique to help diagnose ADPKD. It can detect cysts from 1-1.5 cm. […] The sensitivity of ultrasonography for PKD1 phenotype is 99% for at-risk patients older than 20 years; however, false-negative results are more common in younger patients.

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

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

  CT is more sensitive than ultrasonography and can detect cysts as small as 0.5 cm. […] MRI is more sensitive than either ultrasonography or CT scanning. […] Laboratory studies in patients with ADPK are largely performed to assess for chronic kidney 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: Practice Essentials, Pathophysiology, Etiology

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

  Diagnosis […] Examination in patients with ADPKD may demonstrate the following: Hypertension: One of the most common early manifestations of ADPKD, and associated with rapid chronic disease progression; Palpable, bilateral flank masses, in advanced ADPKD; Nodular hepatomegaly, in patients with severe polycystic liver disease; Rarely, symptoms related to advanced CKD (eg, pallor, uremic fetor, dry skin, edema). […] 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. […] 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: At least 2 kidney cysts or 1 cyst in each kidney in patients younger than 30 years; At least 2 cysts in each kidney in patients aged 30-59 years old; At least 4 cysts in each kidney in patients aged 60 years or older.

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

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

  Investigations Urine: Urinalysis – check for infection, protein (microalbuminuria occurs in about a third but heavy proteinuria is rare) and haematuria. Urine MCS – coliforms are the most usual pathogen. Blood: FBC (polycystic kidneys can produce excess erythropoietin and hence raise Hb). UE, creatinine, eGFR. Bone profile. […] Imaging This is used to establish the diagnosis and to monitor disease progression. Ultrasound can detect cysts in the kidneys from 1-1.5 cm in diameter. Sensitivity for PKD1 is 100% over the age of 20 but false negatives can occur below this age. It is also possible to scan other organs like the liver or pancreas for cysts. Individuals at risk (positive family history) are diagnosed on the following criteria: At least two unilateral or bilateral renal cysts at age 30 years. At least two cysts in each kidney between the ages of 30-59 years. At least four cysts in each kidney at age 60 years. 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. For individuals without a family history, diagnosis requires: Bilateral renal enlargement and cysts, or the presence of multiple bilateral renal cysts and hepatic cysts. No manifestations suggesting an alternative renal cystic disease.

• #9 Molecular diagnostics for autosomal dominant polycystic kidney disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4050432/

  Autosomal dominant polycystic kidney disease (ADPKD) is a common nephropathy caused by mutations in either PKD1 or PKD2. Diagnosis of ADPKD before the onset of symptoms is usually performed using renal imaging by either ultrasonography, CT or MRI. […] However, molecular testing can be valuable when a definite diagnosis is required in young individuals, in individuals with a negative family history of ADPKD, and to facilitate preimplantation genetic diagnosis. […] Although linkage-based diagnostic approaches are feasible in large families, direct mutation screening is generally more applicable. […] Consequently, such screening approaches are expensive. Screening of individuals with ADPKD detects mutations in up to 91% of cases. […] Collation of known variants in the ADPKD mutation database and systematic scoring of nondefinite variants is increasing the diagnostic value of molecular screening.

• #10 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. If someone at risk for PKD is older than 40 years and has a normal ultrasound of the kidneys, they probably do not have PKD. Occasionally, a CT scan (computed tomography scan) and MRI (magnetic resonance imaging) may detect smaller cysts that cannot be found by an ultrasound. MRI is used to measure and monitor the volume and growth of kidneys and cysts. […] 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: […] has an uncertain diagnosis based on imaging tests […] has a family history of PKD and wants to donate a kidney […] is younger than 30-years old with a family history of PKD and a negative ultrasound, and is planning to start a family.

• #11 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

  Genetic testing is recommended for infants with very-early-onset symptomatic disease and for children with a negative family history and progressive disease. […] 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. […] 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. […] 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.

• #12

  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.

• #13 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. […] If you have some of the symptoms of polycystic kidney disease, see your healthcare professional. If you have a parent, sibling or child with polycystic kidney disease, see your healthcare professional to talk about screening for the condition. […] Gene changes cause polycystic kidney disease. Most often, the condition runs in families. […] The biggest risk factor for getting polycystic kidney disease is getting the gene changes that cause the disease from one or both parents. […] Complications linked to polycystic kidney disease include: High blood pressure. This is common in polycystic kidney disease. Not treated, high blood pressure can cause more damage to the kidneys and increase the risk of heart disease and strokes. […] If you have polycystic kidney disease and you’re thinking about having children, a genetic counselor can help you know your risk of passing the disease to your children.

• #14 Diagnosis and Treatment Modalities of Symptomatic Polycystic Kidney Disease – Polycystic Kidney Disease – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK373387/

  Polycystic kidney disease (PKD) can cause end stage kidney disease with an autosomal dominant inheritance pattern. […] Diagnosis of infected cysts can be quite challenging. In recent years, 18FDG-PET/CT has shown to be the most sensitive and accurate modality for the diagnosis of infected cysts. […] The aim of our chapter is to present the current literature on the best diagnostic tests for patients with suspected infected or hemorrhagic cysts, and the best treatment modalities for patients with symptomatic polycystic kidneys prior or after renal transplantation. […] The single most reliable means of differentiating between these two hereditary cystic diseases is to perform renal ultrasound in the parents. […] When the diagnosis of PKD is uncertain, molecular testing can be obtained by gene sequencing of PKHD1 or by linkage analysis.

• #15 Diagnosis and Treatment Modalities of Symptomatic Polycystic Kidney Disease – Polycystic Kidney Disease – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK373387/

  For patients aged 60 years or older the presence of 4 or more cysts in each kidney has a sensitivity of 1 and specificity of 1. […] The diagnosis of cystic infections is usually based on clinical grounds when patients develop systemic symptoms such as fever, weight loss and malaise often in combination with abdominal or back pain. […] The diagnosis can be quite straightforward when symptoms are combined with elevation of laboratory markers of inflammation such as erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and fibrinogen but there are no established cut off values for these parameters. […] Common pathogens include E. coli (74% of positive cultures) and other enteric flora and cyst infections accounts for 10-15% of all causes of hospitalizations of ADPKD patients. […] The main treatment for suspected infected renal cysts is systemic antibiotic therapy for 3 to 6 weeks.

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

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

  Indications for MRA are as follows: Family history of stroke, intracranial aneurysm (ICA), or hemorrhage; patients with a family history of ICA and a negative screening study should be rescreened at 5-10 year intervals; Before major elective surgery; Central nervous system signs or symptoms (eg, nausea and vomiting, lethargy, photophobia, focal signs, seizure, transient ischemic attack, loss of consciousness); High-risk occupation or hobby, in which a loss of consciousness may be lethal (eg, airline pilot); New-onset severe headache; Patient anxiety despite adequate information.

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

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

  Genetic testing Genetic testing can be done by linkage or sequence analysis: Linkage analysis requires accurate diagnosis and availability of sufficient affected family members to be tested and so is suitable in fewer than 50% of cases. Sequence analysis is limited, as ADPKD can be caused by hundreds of different PKD1 and PKD2 mutations and current testing can only identify about 70% of known mutations. 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. Prenatal and pre-implantation testing are possible (within the limitations discussed above).

• #18 Polycystic Kidney Disease Causes, Symptoms, and Treatments

  https://www.upmc.com/services/kidney-disease/conditions/polycystic-kidney-disease

  PKD is usually diagnosed with an imaging test such as a kidney ultrasound, prenatal ultrasound, CT scan, or MRI. […] During your visit, your doctor will: Ask about your family history of PKD. Order blood or imaging tests. Perform a physical exam. Review your health history. […] PKD is usually diagnosed with imaging tests, including: CT scan A test that combines multiple x-rays to create detailed images of the organs, bones, and tissues in your body. MRI Uses a combination of large magnets, radio frequencies, and a computer to produce detailed images of organs and structures within your body. Prenatal ultrasound Uses sound waves to create images of your babys organs during pregnancy. Ultrasound (most common) Uses sound waves to create images of your organs to check for problems. […] In addition to imaging tests to diagnose PKD, your doctor may order blood tests to determine how well your kidneys work. […] Your doctor may also order urine tests, including: Urinalysis Looks for abnormalities in your urine, such as a protein called albumin or blood in your urine that shows up when your kidneys arent working well. Urine output Tracks how much urine your body produces each day.

• #19

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

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

  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. In such instances, close monitoring and repeat imaging tests over time may be necessary to confirm the diagnosis. […] Your healthcare provider will inquire about your family history, as ADPKD is a genetic disorder. Theyll also conduct a physical examination to check for signs of kidney enlargement or other symptoms associated with ADPKD. […] Imaging tests such as ultrasounds, CT scans, or MRI scans are used to visualize the kidneys and detect the presence of cysts. These imaging techniques can also help determine the size and number of cysts present in the kidneys. […] Genetic testing can confirm a diagnosis of ADPKD by identifying mutations in the PKD1 or PKD2 genes. Genetic testing may be recommended if theres uncertainty about the diagnosis or if you have a family history of ADPKD but havent experienced any symptoms.

• #21 Kidneys – polycystic kidney disease (PKD) | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/kidneys-polycystic-kidney-disease-pkd

  Polycystic kidney disease (PKD) is an inherited condition characterised by the growth of cysts on the kidneys. […] There is currently no cure for PKD, but early detection and treatment can reduce or prevent some complications. […] Diagnosis of PKD may involve a number of tests including: physical examination can detect symptoms such as high blood pressure or enlarged kidneys, blood tests to assess kidney function, urine tests blood or protein (or both) may be found in the urine, ultrasound a simple, non-invasive test that can identify even quite small cysts, genetic testing this is not a routine test but may be used for family testing. […] The severe symptoms of autosomal recessive PKD usually result in a prompt diagnosis. However, in most cases of autosomal dominant PKD, for many years there are no signs that a person has the condition. Physical check-ups or blood and urine tests may not always identify the disease. […] It is often detected during medical investigations for other health problems, such as urinary tract infections. At other times, the disease isn’t discovered until the kidneys begin to fail.

• #22 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 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). […] We recommend that children with ADPKD should be strongly encouraged to achieve the low dietary salt intake that is recommended for all children.

• #23 Polycystic Kidney Disease: Symptoms, Diagnosis, and Treatment – Responsum Health

  https://responsumhealth.com/conditions/chronic-kidney-disease/understanding-polycystic-kidney-disease/

  Early detection of PKD is critical for effective management of the disease and slowing its progression. Regular check-ups, especially for individuals with a family history of PKD, can lead to early diagnosis and intervention. Early detection allows healthcare providers to implement treatment strategies to preserve kidney function and improve the patients quality of life.

• #24 ADPKD basics

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

  Getting a diagnosis of ADPKD can be a worrying time. […] How is ADPKD diagnosed and monitored? […] ADPKD is typically diagnosed using an ultrasound scan. Ultrasound uses soundwaves to make an image of the inside of your body. Cysts and enlarged kidneys show up on the scan. […] After diagnosis, you may have ultrasounds or other scans periodically to check the size of your kidneys. You may also have scans of your liver to check for cysts. […] After diagnosis, you’ll have periodic blood tests to check how well your kidneys are filtering your blood. These measure your estimated glomerular filtration rate (eGFR), which we explain below. […] Genetic testing is sometimes for a diagnosis of ADPKD. Not all adults with symptoms of ADPKD need a genetic test to confirm that they have the disease. However, you might have genetic testing if: […] You’ll be under the long-term care of a specialist kidney doctor (nephrologist) and will see them for check-ups. Some people may be monitored by a GP if their kidney function is good and they have no complications.

• #25 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.

• #26 Understanding polycystic kidney disease (PKD) and its challenges

  https://www.openaccessgovernment.org/understanding-polycystic-kidney-disease-pkd-and-its-challenges/169648/

  Polycystic kidney disease is a genetic disorder that lacks a cure and can significantly impact an individuals quality of life. […] We spoke to the American Kidney Fund about the key challenges regarding diagnosing, treating, and managing polycystic kidney disease (PKD), one of the most common inherited conditions affecting the kidneys. […] Unfortunately, patients often will not experience any symptoms of the disease until it has progressed to the later stages. […] Since there is no cure for kidney disease and no way to reverse the damage, screening for the disease is the best way to catch it early, managing it to slow progression before the kidneys fail. […] However, PKD can be more challenging to diagnose because of the prognostic gap. […] For this reason, it is important that patients with PKD also have the volume of their kidneys regularly measured through ultrasounds, CT scans, or MRI scans.

• #27 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.

• #28 Molecular diagnostics for autosomal dominant polycystic kidney disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4050432/

  In the future, when effective therapies are developed for ADPKD, molecular testing may become increasingly widespread. […] The identification and characterization of PKD1 and PKD2 provided an opportunity for mutation-based molecular diagnostics to be used for ADPKD. […] The development of sensitive molecular methods for the diagnosis of ADPKD can be critical to identify potential living related donors in families affected by ADPKD, especially when imaging tests are equivocal. […] Another situation in which molecular testing can be valuable is for obtaining a definite diagnosis for individuals with a negative family history of ADPKD, because of potential phenotypic overlap of ADPKD with several other disorders. […] Molecular testing can be performed by genetic linkage analysis with markers that flank the affected genes or by direct mutation analysis of the genes themselves.

• #29 Molecular diagnostics for autosomal dominant polycystic kidney disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4050432/

  Determining whether a family has mutations in PKD1 or PKD2 is of prognostic value, especially if no known family history of ADPKD exists. […] Molecular diagnostics is available and increasingly informative in autosomal dominant polycystic kidney disease (ADPKD). […] A molecular diagnosis can clarify the disease status in patients with a negative family history and/or unusually mild or severe polycystic kidney disease. […] Hypomorphic PKD1 alleles can significantly modify the ADPKD phenotype and the identification of specific alleles may be of prognostic value, especially in early-onset ADPKD.

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