Cargando…

Case report: Early-onset renal failure as presenting sign of Lesch-Nyhan disease in infancy

Lesch–Nyhan disease (LND) is a rare X-linked recessive disease caused by pathogenic mutations of the HPRT1 gene. The typical clinical manifestations include cerebral palsy, intellectual disability, dysarthria, self-injurious behavior, and gouty arthritis in children. This report describes a Chinese...

Descripción completa

Detalles Bibliográficos
Autores principales: Yang, Lianlian, Guo, Hui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9806254/
https://www.ncbi.nlm.nih.gov/pubmed/36601030
http://dx.doi.org/10.3389/fped.2022.1080486
_version_ 1784862495799771136
author Yang, Lianlian
Guo, Hui
author_facet Yang, Lianlian
Guo, Hui
author_sort Yang, Lianlian
collection PubMed
description Lesch–Nyhan disease (LND) is a rare X-linked recessive disease caused by pathogenic mutations of the HPRT1 gene. The typical clinical manifestations include cerebral palsy, intellectual disability, dysarthria, self-injurious behavior, and gouty arthritis in children. This report describes a Chinese boy aged 2 months and 7 days with a significantly elevated uric acid concentration accompanied by renal dysfunction and, notably, brain imaging changes. Whole-exome sequencing revealed a hemizygous mutation of HPRT1 in nucleotide 508 from cytosine to thymine (c.508C > T), resulting in a nonsense mutation (p.R170X). The incidence of LND is extremely low in China, and hyperuricemia is a common clinical manifestation. Therefore, the possibility of LND should be considered in children with increased uric acid in infancy accompanied by brain imaging changes or neurological dysfunction. Moreover, genetic testing is needed to provide adequate genetic counseling to the family, and should be conducted as early as possible in such children to avoid misdiagnosis or delayed diagnosis.
format Online
Article
Text
id pubmed-9806254
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Frontiers Media S.A.
record_format MEDLINE/PubMed
spelling pubmed-98062542023-01-03 Case report: Early-onset renal failure as presenting sign of Lesch-Nyhan disease in infancy Yang, Lianlian Guo, Hui Front Pediatr Pediatrics Lesch–Nyhan disease (LND) is a rare X-linked recessive disease caused by pathogenic mutations of the HPRT1 gene. The typical clinical manifestations include cerebral palsy, intellectual disability, dysarthria, self-injurious behavior, and gouty arthritis in children. This report describes a Chinese boy aged 2 months and 7 days with a significantly elevated uric acid concentration accompanied by renal dysfunction and, notably, brain imaging changes. Whole-exome sequencing revealed a hemizygous mutation of HPRT1 in nucleotide 508 from cytosine to thymine (c.508C > T), resulting in a nonsense mutation (p.R170X). The incidence of LND is extremely low in China, and hyperuricemia is a common clinical manifestation. Therefore, the possibility of LND should be considered in children with increased uric acid in infancy accompanied by brain imaging changes or neurological dysfunction. Moreover, genetic testing is needed to provide adequate genetic counseling to the family, and should be conducted as early as possible in such children to avoid misdiagnosis or delayed diagnosis. Frontiers Media S.A. 2022-12-19 /pmc/articles/PMC9806254/ /pubmed/36601030 http://dx.doi.org/10.3389/fped.2022.1080486 Text en © 2022 Yang and Guo. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (https://creativecommons.org/licenses/by/4.0/) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Yang, Lianlian
Guo, Hui
Case report: Early-onset renal failure as presenting sign of Lesch-Nyhan disease in infancy
title Case report: Early-onset renal failure as presenting sign of Lesch-Nyhan disease in infancy
title_full Case report: Early-onset renal failure as presenting sign of Lesch-Nyhan disease in infancy
title_fullStr Case report: Early-onset renal failure as presenting sign of Lesch-Nyhan disease in infancy
title_full_unstemmed Case report: Early-onset renal failure as presenting sign of Lesch-Nyhan disease in infancy
title_short Case report: Early-onset renal failure as presenting sign of Lesch-Nyhan disease in infancy
title_sort case report: early-onset renal failure as presenting sign of lesch-nyhan disease in infancy
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9806254/
https://www.ncbi.nlm.nih.gov/pubmed/36601030
http://dx.doi.org/10.3389/fped.2022.1080486
work_keys_str_mv AT yanglianlian casereportearlyonsetrenalfailureaspresentingsignofleschnyhandiseaseininfancy
AT guohui casereportearlyonsetrenalfailureaspresentingsignofleschnyhandiseaseininfancy