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
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
Treatment algorithm
Contributors
Authors
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
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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