All of the following are true about childhood polycystic kidney disease, except -
Autosomal dominant
Pulmonary hypoplasia
Renal cyst present at bih
Hepatic fibrosis
Ans. is 'a' i.e., Autosomal dominant Childhood polvcystic kidney disease o Childhood polycystic kidney disease has autosomal recessive inheritance, therefore it is also known as autosomal recessive polycystic kidney disease. o Defective gene is the PKHD1 (Polycystic Kidney and Hepatic Diseasel) which codes for a protein fibrocystin. Associations o Maternal oligohydramnios o Potter's syndrome o Pulmonary hypoplasia Cogenital hepatic fibrosis o Hepatic cysts o Biliary ductal atresia Clinical features Majority of patients present during first year of life (during infancy). However, sometimes patients may present later in life (in young adults). Presentation is variable : ? 1. Renal Enlarged cystic kidney at bih. Hypeension, Renal failure, Proteinuria. 2. Respiratory Respiratory distress due to pulmonary hypoplasia. 3. Hepatic Hepatomegaly 4. Poal hypeension Esophageal varices, hypersplenism.