All of the following are true about polycystic kidney disease, except - (AIIMS Nov 2013)
|C||Renal cyst Present at birth|
Childhood polycystic kidney disease
a. Childhood polycystic kidney disease has autosomal recessive inheritsnce, therefore it is also known as autosomal recessive polycystic kidney disease.
b. Defective gene is the PKHD| (Polycystic Kidney and Hepatic Disease) which codes for a protein fibrocystin.
a. Maternal oligohydramnios
b. Potter's syndrome
c. Pulmonary hypoplasia
d. Cogenital hepatic fibrosis
e. Hepatic cysts
f. Biliary ductal atresia
a. Majority of patients present during first year of life (during infancy). However, sometimes patients may present later in life (in young adults).
b. Presentation is variable : -
• Enlarged cyctic kidney at birth.
• Hypertension, Renal failure, Proteinuria'
• Respiratory distress due to pulmonary hypoplasia'
• Portal hypertension -- Esophageal varhypersplenism.