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Autosomal Dominant Polycystic Kidney Disease

 Syn. Adult Polycystic Kidney Disease , ADPKD , Complex kidney cyst

Signs & Symptoms

 Progressive formation of multiple renal cysts
Ref: Uptodate [ Renal manifestations of autosomal dominant polycystic kidney disease] Harrison [ 2152] Cecil [ 333]
Flank pain
Note: due to Renal cyst infection
Ref: Uptodate [ Pain syndromes in autosomal dominant polycystic kidney disease] Uptodate [ Renal manifestations of autosomal dominant polycystic kidney disease] Harrison [ 2152] Cecil [ 334]
Nocturia
Ref: Uptodate [ Renal manifestations of autosomal dominant polycystic kidney disease]
Polyuria
Ref: Uptodate [ Renal manifestations of autosomal dominant polycystic kidney disease]

Physical Examination

 Fever
Note: due to Renal cyst infection
Ref: Uptodate [ Renal manifestations of autosomal dominant polycystic kidney disease] Harrison [ 2152] Cecil [ 334]
Hypertension
Ref: Uptodate [ Renal manifestations of autosomal dominant polycystic kidney disease] Harrison [ 2152] Cecil [ 333]
Abdominal masses
Ref: Uptodate [ Renal manifestations of autosomal dominant polycystic kidney disease] Harrison [ 2152]

Lab / Serology

 Concentrating defect
Ref: Uptodate [ Renal manifestations of autosomal dominant polycystic kidney disease]
Proteinuria
Ref: Uptodate [ Renal manifestations of autosomal dominant polycystic kidney disease] Harrison [ 2152]
Anemia
Ref: Uptodate [ Renal manifestations of autosomal dominant polycystic kidney disease]

Imagin Study

 Bilateral renal cysts
Ref: Harrison [ 2152] Cecil [ 333]
Bilateral
Ref: Harrison [ 2152] Cecil [ 333]
Enlarged kidneys
Ref: Harrison [ 2152] Cecil [ 333]

Complication

 Primary cardiomyopathies
Ref: Uptodate [ Extrarenal manifestations of autosomal dominant polycystic kidney disease]
Renal cyst infection
Note: Cause flank pain, cause fever
Ref: Uptodate [ Renal manifestations of autosomal dominant polycystic kidney disease] Harrison [ 2152] Cecil [ 334]
Acute pyelonephritis
Note: Cause flank pain, cause fever
Ref: Uptodate [ Renal manifestations of autosomal dominant polycystic kidney disease] Harrison [ 2152] Cecil [ 334]

Risk Factors

Cause

 Mutations in the PKD1 and PKD2
Ref: Harrison [ 2151] Cecil [ 333]

Other