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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...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2022
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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 |
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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 |
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