Baby born at 30 weeks to 18 years old primigravida of weight 2 kg, 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 were seen. Which of the following finding is expected to be associated with it?
In the given question, neonatal death along with the presence of bilaterally enlarged kidneys with multiple cysts indicate ARPKD (autosomal recessive polycystic kidney disease). ARPKD: Caused by mutation in PKHD-1 gene encoding fibrocystin or polyductin is characterized by fusiform dilation of collecting tubules which are arranged radially from the coex to medulla. Affected children presents with palpable kidneys, oliguria, respiratory insufficiency, poal hypeension due to associated congenital hepatic fibrosis. ADPKD: The autosomal dominant form (ADPKD) is caused by mutations in the ADPKD1 (chromosome 16) or ADPKD2 (chromosome 4) genes encoding polycystin 1 and 2,respectively, The condition usually presents beyond the third decade of life with episodic hematuria, hypeension, palpable kidneys and gradual decline in renal function.
Imperforate anus
Hepatic cyst and fibrosis
Absence of ureter
Holoprosencephaly
congenital anomalies of kidney