Autosomal recessive polycystic kidney and hepatic disease 1

Autosomal polycystic kidney disease is a serious disease of the newborn or infant, which is caused by mutations of the PKHD1 gene. The kidney pathology is dominated by multiple cysts that grow from dilated renal collecting ducts. Liver findings include biliary dysgenesis and portal tract fibrosis.

Epidemiology

Recessive polycystic kidney disease occurs in 1 in 20,000 live births, and is therefore an important childhood nephropathy.[Error: Macro 'ref' doesn't exist]

Clinical Findings

About 30% of affected children die soon after birth from respiratory failure due to pulmonary hypoplasia. The surviving children suffer from severe hypertension, renal insufficiency and portal hypertension.

Diagnosis

The diagnosis is often made in utero by ultrasound. Enlarged echogenic kidneys is the marked feature often accompanied by oligohydramnion secondary to poor urine production.

Systematic

Cystic kidney disease
	Alagille syndrome 2
	Autosomal dominant polycystic kidney disease
	Autosomal recessive polycystic kidney and hepatic disease 1
		Polycystic kidney disease 4
			PKHD1
		Polycystic kidney disease 5
			DZIP1L
	Branchiootorenal dysplasia
	Glomerulocystic kidney disease with hyperuricemia and isosthenuria
	Hajdu-Cheney syndrome
	Medullary cystic disease complex
	Polycystic kidney disease with hyperinsulinemic hypoglycemia
	Renal cysts and diabetes (RCAD)