Polycystic kidney disease

Last reviewed: 7 Jun 2022
Last updated: 05 Nov 2021

Summary

Definition

History and exam

Key diagnostic factors

  • family history of autosomal-dominant PKD (ADPKD) or end-stage renal disease
  • family history of cerebrovascular event
  • renal cysts
  • hypertension
  • abdominal/flank pain
  • hematuria
  • palpable kidneys/abdominal mass
  • headaches
  • dysuria, suprapubic pain, fever
More key diagnostic factors

Other diagnostic factors

  • cardiac murmur
  • abdominal hernia
  • hepatomegaly
  • chest pain
Other diagnostic factors

Risk factors

  • family history of autosomal-dominant PKD (ADPKD)
  • family history of cerebrovascular event
More risk factors

Diagnostic investigations

1st investigations to order

  • renal ultrasound
  • CT scan of abdomen/pelvis
  • MRI of abdomen/pelvis
  • urinalysis/Gram stain and urine culture
  • serum electrolytes, BUN, creatinine
  • fasting lipid profile
  • ECG
  • CT scan of brain
More 1st investigations to order

Investigations to consider

  • genetic testing
  • echocardiogram
  • 24-hour urine collection
  • dual-energy CT of abdomen/pelvis
  • lumbar puncture and cerebrospinal fluid analysis
  • MRI of brain
  • C-reactive protein
  • PET scan
More investigations to consider

Treatment algorithm

ACUTE

confirmed autosomal-dominant polycystic disease

ONGOING

end-stage renal disease

Contributors

Authors

Marie C. Hogan, MD, PhD

Consultant

Division of Nephrology

Professor of Medicine

College of Medicine

Mayo Clinic

Rochester

MN

Disclosures

MCH receives research funding from Novartis, and was an investigator participating in tolvaptan clinical trials. MCH is also an author of several references cited in this topic.

Vicente Torres, MD, PhD

Professor

Division of Nephrology and Hypertension

Department of Internal Medicine

Mayo Clinic

Rochester

MN

Disclosures

VT is an author of several references cited in this topic.

Peer reviewers

Richard Sandford, PhD, FRCP

Wellcome Trust Senior Fellow in Clinical Research

University Reader in Real Genetics

Honorary Consultant in Medical Genetics

Cambridge

UK

Disclosures

RS declares that he has no competing interests.

Arlene Chapman, MD

Professor of Medicine

Renal Division

Emory University

School of Medicine

Atlanta

GA

Disclosures

Not disclosed.

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