genitourinary disorders
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Diagnosis of ADPKD
Ultrasonography Sometimes CT or MRI or genetic testing The diagnosis of polycystic kidney disease is suspected in patients with the following: A positive family history Typical symptoms or signs Cysts detected incidentally on imaging studies Patients should be counseled before undergoing diagnostic testing, particularly if they are asymptomatic. For example, many authorities recommend against testing asymptomatic young patients because no disease-modifying treatment is effective at this age and diagnosis has potential negative effects on mood and on the ability to obtain life insurance on favorable terms. Diagnosis is usually by imaging, showing extensive and bilateral cystic changes throughout the kidneys, which are typically enlarged and have a moth-eaten appearance due to cysts that displace functional tissue. These changes develop with age and are less often present or obvious in younger patients. Ultrasonography is usually done first. For patients with family history of ADPKD, ultrasound criteria (based on age and number of renal cysts) are used to diagnose or exclude ADPKD. Imaging criteria are not established in patients with negative or unknown history. CT or MRI are often done after establishing the diagnosis of ADPKD. CT and MRI are more sensitive than ultrasound in detecting cysts and can be useful in equivocal cases and for measuring cyst and kidney volume, which can have prognostic implications. Urinalysis , renal function tests, and complete blood count (CBC) are done, but results are not specific. detects mild proteinuria and microscopic or macroscopic hematuria. Gross hematuria may be due to a dislodged Urinary Calculi or to hemorrhage from a ruptured cyst. Pyuria is common even without bacterial infection; thus diagnosis of infection should be based on culture results and clinical findings (eg, dysuria, fever, flank pain) as well as urinalysis. Initially, blood Patients with symptoms of cerebral aneurysm require high-resolution CT or magnetic resonance angiography. However, most experts do not recommend routine screening for cerebral aneurysm in asymptomatic patients. A reasonable approach is to screen patients with autosomal dominant polycystic kidney disease (ADPKD) who have a family history of Overview of Stroke or Genetic testingfor 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 1st-degree relatives of patients with ADPKD. 