Inherited renal cystic disease, of which autosomal-dominant polycystic kidney disease (ADPKD) is the more common form.
Characterized by renal cysts, extrarenal cysts, intracranial aneurysms and dolichoectasias (elongated and distended arteries), aortic root dilation and aneurysms, mitral valve prolapse, and abdominal wall hernias.
Interfamilial and intrafamilial variability is explained to a large extent by its genetic heterogeneity and modifier genes.
Long-term complications include hypertension, increased cardiovascular morbidity and mortality, chronic renal failure, ruptured intracranial aneurysm, and end-stage renal disease (ESRD).
Efforts to slow the progression of the disease and delay the need for renal replacement therapy are being investigated, and in some countries therapies that slow kidney disease are approved for use.
Polycystic kidney disease (PKD) is part of a heterogeneous group of disorders characterized by renal cysts and numerous systemic and extrarenal manifestations. There are 2 types: autosomal-dominant PKD (ADPKD) and autosomal-recessive PKD (ARPKD). This monograph concentrates on ADPKD, the more common form.
History and exam
- family history of autosomal-dominant PKD (ADPKD) or end-stage renal disease (ESRD)
- family history of cerebrovascular event
- renal cysts
- abdominal/flank pain
- palpable kidneys/abdominal mass
- dysuria, urgency, suprapubic pain, fever
Marie C. Hogan, MD, PhD
Division of Nephrology
Associate Professor of Medicine
College of Medicine
MCH receives research funding from Novartis. MCH is also an author of a reference cited in this monograph.
Vicente Torres, MD, PhD
Division of Nephrology and Hypertension
Department of Internal Medicine
VT is an author of several references cited in this monograph.
Richard Sandford, PhD, FRCP
Wellcome Trust Senior Fellow in Clinical Research
University Reader in Real Genetics
Honorary Consultant in Medical Genetics
RS declares that he has no competing interests.
Arlene Chapman, MD
Professor of Medicine
School of Medicine
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