Last reviewed: April 2018
Last updated: April  2018

Summary

Definition

History and exam

Key diagnostic factors

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

Other diagnostic factors

  • cardiac murmur
  • abdominal hernia or rectus abdominis diastasis
  • hepatomegaly
  • chest pain

Risk factors

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

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, urea, creatinine
  • fasting lipid profile
  • ECG
  • CT scan of brain
Full details

Investigations to consider

  • genetic testing
  • echocardiogram
  • 24-hour urine collection
  • kidney, ureters, bladder (KUB) x-ray and tomogram
  • dual-energy CT
  • lumbar puncture and cerebrospinal fluid analysis
  • magnetic resonance angiogram of brain
  • C-reactive protein
  • PET scan
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

Consultant

Division of Nephrology

Associate Professor of Medicine

College of Medicine

Mayo Clinic

Rochester

MN

Disclosures

MCH receives research funding from Novartis. MCH is also an author of a reference cited in this monograph.

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 monograph.

Peer reviewers VIEW ALL

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.

Professor of Medicine

Renal Division

Emory University

School of Medicine

Atlanta

GA

Disclosures

Not disclosed.

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