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Definition

A severe form of polycystic kidney disease affecting the kidneys and, in some cases, the hepatic biliary tract. The clinical spectrum is widely variable, with most cases presenting during infancy. The fetal phenotypic features classically include enlarged and echogenic kidneys, as well as oligohydramnios secondary to a poor urine output. Up to 50% of the affected neonates die shortly after birth, as a result of severe pulmonary hypoplasia and secondary respiratory insufficiency. In the subset that survives the perinatal period, morbidity and mortality are mainly related to severe systemic hypertension, renal insufficiency, and portal hypertension due to portal-tract fibrosis. PKD4 inheritance is autosomal recessive.

Acronym

PKD4

Synonyms

ARPKD
Infantile polycystic kidney disease type I
PKD3
PKHD1
Polycystic kidney and hepatic disease 1
Polycystic kidney disease, autosomal recessive

Keywords

Ciliopathy

 
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