Baby born at 30 weeks for 18 year old primi gravida of weight 2 kg which died after 48 hours. Apgar scores were 5 and 8 at 1 and 5 minutes. On autopsy bilateral enlarged kidney with multiple radially arranged cysts. Which of the following finding is expected to be associated with?
Hepatic cyst and fibrosis [Ref Nelson 18th/e p 21857 The clinical findings suggest autosomal recessive polycystic kidney disease. The diagnosis of autosomal recessive polycystic kidney disease is strongly suggested by bilateral papable flank masses in an infant with pulmonary hypoplasia, oligohydramnios and hypeension and the absence of renal cysts in the parents. On imaging and biopsy the kidney shows innumerable cysts radiating from medulla to the coex. The other most notable feature of ARPKD is liver involvement disease in the liver is typically diffuse presenting as poal and interlobular fibrosis. More on autosomal recessive polycystic kidney disease Also known as infantile polycystic disease, it is an autosomal recessive disorder. Pathology Both kidneys are markedly enlarged and grossly show innumerable cysts throughout the coex and medulla. Microscopic studies demonstrate cysts elongated and radially arranged from medulla to the coex located primarily within the collecting tubules and the ducts. 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. Clinical manifestations The typical child presents with bilateral flank masses during the neonatal period or early infancy. In the neonates oligohydramnios results from intrauterine renal failure. Oligohydramnios results in insufficient lung development and the typical potter .facies which is characterized by low set ears, a flat nose and retracted chin. Postnatally the typical child presents with bilateral flank masses, renal insufficiency and hypeension. Hypeension is usually noted within the first few weeks of life and is often severe. Urine output is usually not diminished although oliguria and acute renal failure may be seen. 30% of the patient dies in neonatal period due to pulmonary hypoplasia. Diagnosis The diagnosis of ARPKD is strongly suggested by bilateral palpable flank masses in infant with pulmonary hypoplasia, oligohydramnios, and hypeension and the absence of renal cysts in the parents. Ultrasound demonstrates markedly enlarged and uniformly hyperechogenic kidneys with poor coicomedullary distinction. The diagnosis is also suppoed by clinical/laboratory signs of hepatic fibrosis, pathological findings of ductal plate abnormalities seen on liver biopsy, anatomical and pathological proof of ARPKD in a sibling or parental consanguinity. MR' shows radial arrangement of fusiformly dilated collecting ducts.
Imperforate anus
Hepatic cyst and fibrosis
Absence of ureter
Holoprosencephaly