All of the following are true about childhood polycystic kidney disease, except -
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.
Autosomal dominant
Pulmonary hypoplasia
Renal cyst present at bih
Hepatic fibrosis