Alagille sendromu’na eşlik eden kronik böbrek yetmezliği: olgu sunumu

Abstract

Introduction : Alagille syndrome is an autosomal dominant disorder that affects intrahepatic bile ducts, skeletal, renal, cardiac, and central nervous system and characterized with typical facial appearance. Case : A female newborn with the antenatal diagnosis of right hypoplastic kidney was hospitalized following the birth. One of her siblings with Jagged 1 mutation has died because of renal and liver failure. Our case had total and direct hyperbilirubinemia. Renal ultrasonography revealed bilateral dysplastic kidney. Peripheral pulmonary stenosis was diagnosed with echocardiography. She has posterior embryotoxon on eye examination. Although liver biopsy could not be performed because of fungal peritonitis, Allagille syndrome with the renal failure secondary to bilateral dysplastic kidney was thought with the family history, clinical and laboratory findings. Conclusion : We presented this atypical case coinciding with bilateral congenital dysplastic kidneys and chronic renal failure.