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Paediatric

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Renal System

Question
57 out of 61
 

All of the following are true about polycystic kidney disease, except - (AIIMS Nov 2013)



A Autosomal dominant

B Pulmonary hypoplasia

C Renal cyst Present at birth

D Hepatic fibrosis

Ans. A

Autosomal dominant

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.

Associations

a. Maternal oligohydramnios

b. Potter's syndrome

c. Pulmonary hypoplasia

d. Cogenital hepatic fibrosis

e. Hepatic cysts

f. Biliary ductal atresia

Clinical features

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 : -

i. Renal

Enlarged cyctic kidney at birth.

Hypertension, Renal failure, Proteinuria'

ii. Respiratory

Respiratory distress due to pulmonary hypoplasia'

iii. Hepatic

Hepatomegaly

Portal hypertension -- Esophageal varhypersplenism.

Renal System Flashcard List

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