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Article

Lesch-Nyhan syndrome due to a splice-site mutation in a 14-month-old boy presenting as acute renal failure.

Clinical nephrology - 1 Aug 2021

Kollios Konstantinos, Savvidou Parthena, Karipiadou Aristea, Zagkanika Sofia, Seitanidou Styliani, Vargiami Efthymia, Zafeiriou Dimitrios, Roilides Emmanual

Abstract excerpt

Lesch-Nyhan disease (LND) is a rare X-linked recessive inherited disorder caused by mutations in HPRT1 gene resulting in deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT). LND is characterized by hyperuricemia and a spectrum of neurological and behavioral manifestations. We describe a rare case of a 14-month-old boy presenting with acute renal failure and hyperuricemia. The patient exhibited all...

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PMID: 33993907
DOI: 10.5414/CN110307

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