Polycystic Kidney Disease Workup

  • Author: Roser Torra, MD, PhD; Chief Editor: Vecihi Batuman, MD, FACP, FASN   more...
 
Updated: Oct 5, 2011
 

Approach Considerations

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. For more information, see the Medscape Reference article Imaging inAutosomal Dominant Polycystic Kidney Disease.

Other studies to perform include the following:

  • Serum chemistry profile, including calcium and phosphorus
  • Complete blood cell count
  • Urinalysis
  • Urine culture
  • Uric acid determination
  • Intact parathyroid hormone assay

An increased hematocrit may result from increased erythropoietin secretion from cysts. A decrease in urine-concentrating ability is an early manifestation of the disease. Microalbuminuria occurs in 35% of patients with ADPKD. However, nephrotic-range proteinuria is uncommon.

Genetic testing

Genetic testing may be performed. The major indication for genetic screening is in young adults with negative ultrasonographic findings who are being considered as potential kidney donors.[18] Genetic testing by means of DNA linkage analysis has an accuracy rate greater than 95% for ADPKD1 and ADPKD2. Mutation screening is commercially available. To perform genetic testing, obtain blood from at least 2 affected individuals (if they are parent and child, 1 more affected family member is needed) and 2 unaffected individuals from one family.

Staging by glomerular filtration rate

Staging of renal failure is as follows:

  • Stage 1 – Glomerular filtration rate (GFR) >90 mL/min
  • Stage 2 - GFR 60-90 mL/min
  • Stage 3 - GFR 30-60 mL/min
  • Stage 4 - GFR 15-30 mL/min
  • Stage 5 - GFR < 15 mL/min

Other studies

Intravenous urography was once widely used in the diagnosis of ADPKD. Among its disadvantages are that it involves contrast medium and it is diagnostic only in advanced-stage ADPKD when distortion of calyces has developed . It is no longer indicated to establish a diagnosis of the disease. Barium enema may be used to help diagnose colonic diverticula. Doppler studies and 2-dimensional echocardiography are used to exclude mitral prolapse, which is often associated with ADPKD.

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Ultrasonography

Ultrasonography is the most widely used imaging technique to help diagnose ADPKD.[19] It can detect cysts from 1-1.5 cm. This study avoids the use of radiation or contrast material, is widely available, and is inexpensive. The sensitivity of ultrasonography for ADPKD1 is 99% for at-risk patients older than 20 years; however, false-negative results are more common in younger patients. Sensitivity for ADPKD2 is lower and is still not well defined.

Ultrasonography is also useful for exploring abdominal extrarenal features of ADPKD (eg, liver cysts, pancreatic cysts).The presence of hepatic or pancreatic cysts supports the diagnosis of ADPKD.

Ultrasonographic diagnostic criteria for ADPKD1 were established by Ravine et al in 1994 and are as follows[20] :

  • At least 2 cysts in 1 kidney or 1 cyst in each kidney in an at-risk patient younger than 30 years
  • At least 2 cysts in each kidney in an at-risk patient aged 30-59 years
  • At least 4 cysts in each kidney for an at-risk patient aged 60 years or older

Ultrasonographic diagnostic criteria for ADPKD in patients with a family history but unknown genotype were established by Pei et al in 2009 and are as follows[21] :

  • Three or more (unilateral or bilateral) renal cysts in patients aged 15-39 years
  • Two or more cysts in each kidney in patients aged 30-59 years

Fewer than 2 renal cysts in the findings provides a negative predictive value of 100% and can be considered sufficient for ruling out disease in at-risk individuals older than 40 years of age.

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CT, MRI, and MRA

CT is more sensitive than ultrasonography and can detect cysts as small as 0.5 cm. However, it exposes the patient to radiation and is more expensive; therefore, it is not used routinely for diagnosis or for follow-up studies of ADPKD. CT may be useful in doubtful cases in children or in complicated cases (eg, kidney stone, suspected tumor).

MRI is more sensitive than either ultrasonography or CT scanning. It may be more helpful in distinguishing renal cell carcinoma from simple cysts. MRI is the best imaging tool to monitor kidney size after treatment to assess progress. However, it is not routinely used because it is expensive and tedious. It should not be used unless the patient is in a protocol or similar situation. MRI is the criterion standard to help determine renal volume for clinical trials when testing drugs for ADPKD.

Magnetic resonance angiography (MRA) is the preferred imaging technique for diagnosing intracranial aneurysms (ICAs). It is used selectively rather than routinely. Indications for this study are as follows[22, 23] :

  • Family history of stroke or ICA
  • Development of symptoms suggesting an ICA
  • Job or hobby in which a loss of consciousness may be lethal
  • Past history of ICA
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Contributor Information and Disclosures
Author

Roser Torra, MD, PhD  Consulting Staff, Hereditary Renal Diseases, Department of Nephrology, Fundacio Puigvert, Spain

Roser Torra, MD, PhD is a member of the following medical societies: American Society of Nephrology and International Society of Nephrology

Disclosure: Nothing to disclose.

Specialty Editor Board

Laura Lyngby Mulloy, DO, FACP  Professor of Medicine, Chief, Section of Nephrology, Hypertension, and Transplantation Medicine, Glover/Mealing Eminent Scholar Chair in Immunology, Medical College of Georgia

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

George R Aronoff, MD  Director, Professor, Departments of Internal Medicine and Pharmacology, Section of Nephrology, Kidney Disease Program, University of Louisville School of Medicine

George R Aronoff, MD is a member of the following medical societies: American Federation for Medical Research, American Society of Nephrology, Kentucky Medical Association, and National Kidney Foundation

Disclosure: Nothing to disclose.

Chief Editor

Vecihi Batuman, MD, FACP, FASN  Professor of Medicine, Section of Nephrology-Hypertension, Tulane University School of Medicine; Chief, Medicine Service, Southeast Louisiana Veterans Health Care System

Vecihi Batuman, MD, FACP, FASN is a member of the following medical societies: American College of Physicians, American Society of Hypertension, American Society of Nephrology, and International Society of Nephrology

Disclosure: Nothing to disclose.

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