eMedicine Specialties > Nephrology > Cystic Diseases of the Kidney

Polycystic Kidney Disease: Differential Diagnoses & Workup

Author: Roser Torra, MD, PhD, Consulting Staff, Hereditary Renal Diseases, Department of Nephrology, Fundacio Puigvert, Spain
Contributor Information and Disclosures

Updated: Sep 17, 2009

Differential Diagnoses

Cystic Diseases of the Kidney
von Hippel-Lindau Disease

Other Problems to Be Considered

Acquired renal cystic disease
Autosomal recessive polycystic kidney disease
Medullary cystic disease
Orofaciodigital type II syndrome
Renal dysplasia
Simple renal cysts
Tuberous sclerosis

Workup

Laboratory Studies

  • Genetic testing is available by means of DNA linkage analysis and has an accuracy rate of greater than 95% for ADPKD1 and ADPKD2.
    • To perform this analysis, 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.
    • The major indication for genetic screening is in young adults with negative ultrasonographic findings who are being considered as potential kidney donors.
    • Mutation screening is commercially available (Athena Diagnostics, Inc, Worchester, Mass).
  • Other studies to perform include a serum chemistry profile, including calcium and phosphorus; a complete blood cell count; urinalysis; urine culture; uric acid determination; and intact parathyroid hormone value.
  • An increased hematocrit may result from increased erythropoietin secretion from cysts.

Imaging Studies

  • Ultrasonography5
    • This is the most widely used imaging technique to help diagnose ADPKD, and 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.
    • Ultrasonographic imaging is likely to remain a widely applied modality for diagnosing ADPKD.
    • Sensitivity for ADPKD1 is 99% for at-risk patients older than 20 years, but ultrasonography often yields false-negative results 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:6
      • 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
  • Computed tomography (CT) scan
    • This study is more sensitive than ultrasonography and can detect cysts as small as 0.5 cm.
    • It involves radiation and is more expensive; therefore, it is not used routinely for diagnosis or for follow-up studies of ADPKD.
    • This study may be useful in doubtful cases in children or in complicated cases (eg, kidney stone, suspected tumor).
  • Magnetic resonance imaging (MRI)
    • This study is also 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.
  • Intravenous urography
    • This was once used widely to diagnose ADPKD.
    • It involves contrast and only helps in the diagnosis of advanced-stage ADPKD because of the distortion of calyces.
    • It is no longer indicated to establish a diagnosis of the disease.
  • Magnetic resonance angiography
    • This is the preferred imaging technique for diagnosing ICAs.
    • This study is recommended when a member of the family is diagnosed with an ICA, if the patient refers to symptoms related to an ICA, when the patient has a high-risk job, or when the patient has had a previous ICA.

Procedures

  • Barium enema - To help diagnose colonic diverticula
  • Doppler studies and 2-dimensional echocardiography - To exclude mitral prolapse, which is often associated with ADPKD

Staging

Staging of renal failure is as follows:

  • Stage 1 - 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

More on Polycystic Kidney Disease

Overview: Polycystic Kidney Disease
Differential Diagnoses & Workup: Polycystic Kidney Disease
Treatment & Medication: Polycystic Kidney Disease
Follow-up: Polycystic Kidney Disease
Multimedia: Polycystic Kidney Disease
References
Further Reading
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References

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Keywords

polycystic kidney disease, PKD, polycystic kidney, kidney cyst, kidney cysts, kidney disease, renal cyst, renal cysts, autosomal dominant polycystic kidney disease, ADPKD, adult polycystic kidney disease, polycystic kidney disease type 1, PKD1, polycystic kidney disease type 2, PKD2, kidney failure, renal failure, dialysis-dependent kidney disease, end-stage renal disease, ESRD, end-stage kidney disease, ESKD, renal transplantation, renal transplant, kidney transplantation, kidney transplant, hemodialysis, peritoneal dialysis, ADPKD type 1, ADPKD1, ADPKD type 2, ADPKD2

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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.

Medical Editor

Laura L 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.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

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.

CME Editor

Rebecca J Schmidt, DO, FACP, FASN, Professor of Medicine, Section Chief, Department of Medicine, Section of Nephrology, West Virginia University School of Medicine
Rebecca J Schmidt, DO, FACP, FASN is a member of the following medical societies: American College of Osteopathic Internists, American College of Physicians, American Medical Association, American Society of Nephrology, International Society of Nephrology, National Kidney Foundation, Renal Physicians Association, and West Virginia State Medical Association
Disclosure: Abbott Grant/research funds Speaking and teaching; Genzyme Honoraria Consulting; Amgen Honoraria Speaking and teaching; Ortho Biotech Honoraria Speaking and teaching

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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