All of the following are true about childhood polycystic kidney disease, except –
Correct Answer: Autosomal dominant
Description: Childhood polycystic kidney disease
Childhood polycystic kidney disease has autosomal recessive inheritance, therefore it is also known as autosomal recessive polycystic kidney disease.
Defective gene is the PKHD1 (Polycystic Kidney and Hepatic Di8easel) which codes for a protein fibrocystin. Associations
Maternal oligohydramnios
Potter's syndrome
Pulmonary hypoplasia
Congenital hepatic fibrosis
Hepatic cysts
Biliary ductal atresia
Clinical features
Majority of patients present during the first year of life (during infancy). However, sometimes patients may present later in life (in young adults).
The presentation is variable : -
1. Renal
Enlarged cystic kidney at birth.
Hypertension, Renal failure, Proteinuria.
2. Respiratory
Respiratory distress due to pulmonary hypoplasia.
3. Hepatic
Hepatomegaly
Portal hypertension → Esophageal varices, hypersplenism.
Category:
Pediatrics
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