Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

Symptoms

Renal cysts
Bilateral renal cysts are early detectable, sometimes even by prenatal ultrasound.
Oligohydramnios
Oligohydramnios is an early but not so common sign of ARPKD.
Hepatic fibrosis
The liver shows the typical signs of CHF in patients with ARPKD.

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)

References:

1.

Ward CJ et al. (2002) The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.

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2.

Bergmann C et al. (2003) Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

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3.

Gupta GK et al. (2000) Urinary basic fibroblast growth factor: a noninvasive marker of progressive cystic renal disease in a child.

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4.

None (2002) Another cystic mystery solved.

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5.

Guay-Woodford LM et al. (2003) Autosomal recessive polycystic kidney disease: the clinical experience in North America.

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6.

Bosch BM et al. (2003) Autosomal recessive polycystic kidney disease: improvement of renal function.

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7.

Wang S et al. (2004) The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area.

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8.

Zhang MZ et al. (2004) PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells.

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9.

Bergmann C et al. (2005) Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).

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10.

Adeva M et al. (2006) Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).

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11.

Torra R et al. (1996) Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation.

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12.

Zerres K et al. (1998) Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology.

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13.

Wikipedia article

Wikipedia EN (Congenital_hepatic_fibrosis) [^]
Update: April 29, 2019