autosomal dominant polycystic kidney disease


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autosomal dominant polycystic kidney disease

A common (1:400–1:1000) autosomal dominant condition (OMIM:173910), which causes 6–9% of end-stage renal disease in developed countries. ADPKD first appears in adults with upper quadrant tenderness; extrarenal disease is due to defective extracellular matrix, with hepatic cysts, diverticulosis, berry and abdominal aneurysms, annuloaortic ectasia and valvular regurgitation.

Clinical findings
Acute or subacute onset of azotaemia and hypertension, due to increased activity of the renin-angiotensin-aldosterone (RAA) system, possibly related to the ischaemic pressure induced by the expanding cysts.

Lab
Anaemia, increased ESR, increased WBCs.
 
Diagnosis
Ultrasonography.

autosomal dominant polycystic kidney disease

ADPKD A common–1:400-1:1000 AD condition, which causes 6-9% of ESRD in developed countries Clinical Acute or subacute onset of azotemia and HTN, due to ↑ activity of the RAA system, possibly related to the ischemic pressure induced by the expanding cysts; ADPKD first appears in adults with upper quadrant tenderness; extrarenal disease is due to defective extracellular matrix, with hepatic cysts, diverticulosis, berry and abdominal aneurysms, annuloaortic ectasia, valvular regurgitation, anemia, ↑ ESR, ↑ WBCs Diagnosis Ultrasonography. See Polycystic kidneys.
References in periodicals archive ?
Mechanisms of progression in autosomal dominant polycystic kidney disease.
The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I.
Cyst formation and growth in autosomal dominant polycystic kidney disease.
Mispolarization of desmosomal proteins and altered intercellular adhesion in autosomal dominant polycystic kidney disease.
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.
Polycystin-2, the protein mutated in autosomal dominant polycystic kidney disease (ADPKD), is a Ca2 +-permeable nonselective cation channel.
Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.
The neonate with adult-type autosomal dominant polycystic kidney disease.
Molecular genetics and mechanism of autosomal dominant polycystic kidney disease.

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