Baby born at 30 weeks for 18 year old primi gravid of weight 2 kg which died after 48 hours. Apgar scores were 5 and 8 at 1 and 5 minutes. On autopsy bilaterat enlarged kidney with multiple radially arranged cysts. Which of the following finding is expected to be associated with? (LQ)
|B||Hepatic cyst and fibrosis|
|C||Absence of ureter|
Hepatic cyst and fibrosis
a. The clinical findings suggest autosomal recessive polycystic kidney disease.
b. The diagnosis of autosomal recessive polycystic kidney disease is strongly suggested by bilateral papable ftank masses in-an infant with pulmonary hypoplasia, oligohydrumnios and hypertension and the absence of renal cysts in the Parents.
c. On imaging and biopsy the kidney shows innumerable cysts radiating from medulla to the cortex.
d. Autosomal recessive kidney disease is associated with liver disease in about 45"h cases.
e. Both kidneys are markedly enlarged and grossly show innumerable cysts throughout the cortex and medulla.
f. Microscopic studies demonstrate microcysts radiating from medulla to the cortex located primarily within the
g. Collecting tubules and the ducts.
h. Development of progressive interstitial fibrosis and tubular atrophy during advanced stages of disease eventually leads to renal failure.
Liver involvement is characterized by bile duct proliferation and ectasia as well as by hepatic fibrosis.