Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
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]
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.
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.
| Renal cysts | |
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Bilateral renal cysts are early detectable, sometimes even by prenatal ultrasound. |
| Oligohydramnios | |
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Oligohydramnios is an early but not so common sign of ARPKD. |
| Hepatic fibrosis | |
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The liver shows the typical signs of CHF in patients with ARPKD. |
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de Fallois J et al. (2021) Challenging Disease Ontology by Instances of Atypical and Genetics. 
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Ward CJ et al. (2002) The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
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Bergmann C et al. (2003) Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
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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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None (2002) Another cystic mystery solved.
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| 6. |
Guay-Woodford LM et al. (2003) Autosomal recessive polycystic kidney disease: the clinical experience in North America.
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| 7. |
Bosch BM et al. (2003) Autosomal recessive polycystic kidney disease: improvement of renal function.
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| 8. |
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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| 9. |
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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| 10. |
Bergmann C et al. (2005) Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
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| 11. |
Adeva M et al. (2006) Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).
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| 12. |
Torra R et al. (1996) Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation.
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| 13. |
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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| 14. |
Wikipedia article Wikipedia EN (Congenital_hepatic_fibrosis)
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