E-ISSN 2757-8062
Volume : 46 Issue : 1 Year : 2022

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Zeynep Kamil Medical Journal
Alagille Syndrome Presenting With Chronic Renal Failure: Case Report [Zeynep Kamil Med J]
Zeynep Kamil Med J. 2015; 46(1): 36-39

Alagille Syndrome Presenting With Chronic Renal Failure: Case Report

Selahattin Akar, Sevilay Topçuoğlu, Dilek Yavuzcan Öztürk, Güner Karatekin, Fahri Ovalı
Zeynep Kamil Gynecology and Child Diseases Educ. and Res. Hospital Neonatal Intensive Care Unit, Istanbul, Turkey

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.

Keywords: Alagille syndrome, dysplastic kidney, renal failure.

Selahattin Akar, Sevilay Topçuoğlu, Dilek Yavuzcan Öztürk, Güner Karatekin, Fahri Ovalı. Alagille Syndrome Presenting With Chronic Renal Failure: Case Report. Zeynep Kamil Med J. 2015; 46(1): 36-39

Corresponding Author: Selahattin Akar, Türkiye
Manuscript Language: English
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