A 3-year-old child presented to the OPD for the first time with complaints of abdominal mass, polyuria and polydipsia. The child was born at 39 weeks gestation spontaneous vaginal delivery outside the hospital. IVP reveals streaky appearance of the kidneys. USG and CT abdomen were done. The gene involved in the above condition is present on which chromosome: –
Correct Answer: 6p
Description: This is a case of autosomal recessive polycystic kidney disease. Both the USG and CT reveal multiple cysts in the kidney. CT scan also shows caroli's disease in liver. Results from a mutation in the PKHD1 (polycystic kidney and hepatic disease) gene location on chromosome 6p.T The age of presentation is variable and is divided into perinatal, neonatal, infantile and juvenile forms. On imaging, it usually presents on ultrasound with enlarged echogenic kidneys with multiple small cysts. Liver involvement with coarse echotexture, biliary tract cystic changes, and poal hypeension may be evident, depending on the age and stage of hepatic fibrosis.
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