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Autosomal Recessive Polycystic Kidney Disease

 Syn. ARPKD

Signs & Symptoms

 Polydipsia
Ref: Uptodate [ Autosomal recessive polycystic kidney disease in children]
Deformities of spine
Ref: Uptodate [ Autosomal recessive polycystic kidney disease in children] Cecil [ 334]
Polyuria
Ref: Uptodate [ Autosomal recessive polycystic kidney disease in children]
Pseudo epicanthus
Note: due to Potter syndrome
Ref: Uptodate [ Autosomal recessive polycystic kidney disease in children] Cecil [ 334]

Physical Examination

 Hypertension
Ref: Uptodate [ Autosomal recessive polycystic kidney disease in children] Harrison [ 2154]
Fever
Note: Suspicion of cholangitis
Ref: Uptodate [ Autosomal recessive polycystic kidney disease in children]

Lab / Serology

 Hyponatremia
Ref: Uptodate [ Autosomal recessive polycystic kidney disease in children]
Impaired liver function tests
Note: Suspicion of cholangitis
Ref: Uptodate [ Autosomal recessive polycystic kidney disease in children]
Thrombocytopenia
Ref: Uptodate [ Autosomal recessive polycystic kidney disease in children]

Imagin Study

 Enlarged echogenic kidneys Gr. Infants
Ref: Uptodate [ Autosomal recessive polycystic kidney disease in children] Harrison [ 2154] Cecil [ 334]
Oligohydroaminos
Ref: Uptodate [ Autosomal recessive polycystic kidney disease in children] Harrison [ 2154] Cecil [ 334]
Pulmonary hypoplasia
Ref: Uptodate [ Autosomal recessive polycystic kidney disease in children] Harrison [ 2154] Cecil [ 334]

Complication

 Renal insufficiency Gr. Infants
Note: Neonates
Ref: Uptodate [ Autosomal recessive polycystic kidney disease in children] Harrison [ 2154] Cecil [ 334]
Recessed chin
Note: due to Potter syndrome
Ref: Uptodate [ Autosomal recessive polycystic kidney disease in children] Cecil [ 334]
Pseudo epicanthus
Note: due to Potter syndrome
Ref: Uptodate [ Autosomal recessive polycystic kidney disease in children] Cecil [ 334]

Risk Factors

Cause

 Mutations in a single gene PKHD1
Ref: Uptodate [ Autosomal recessive polycystic kidney disease in children] Harrison [ 2154] Cecil [ 334]

Other