Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients
| Autor: | Adriana Becerra, Lynette D. Fairbanks, Norberto Guelbert, Emilia Escuredo, Hyder A. Jinnah, Raquel Dodelson de Kremer, Laura E. Laróvere |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Oncology
HPRT1 mutation medicine.medical_specialty Medicine (General) Endocrinology Diabetes and Metabolism Pedigree chart Disease Hyperuricemia hyperuricemia Single Center purl.org/becyt/ford/3.3 [https] R5-920 Internal medicine Genotype medicine Genetics (clinical) biology business.industry nutritional and metabolic diseases Lesch-Nyhan disease Hypoxanthine-guanine phosphoribosyltransferase deficiency medicine.disease Hypoxanthine-guanine phosphoribosyltransferase Pediatrics Perinatology and Child Health Cohort biology.protein Phosphoribosyltransferase purl.org/becyt/ford/3 [https] business Lesch-Nyhan variant |
| Zdroj: | Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021) CONICET Digital (CONICET) Consejo Nacional de Investigaciones Científicas y Técnicas instacron:CONICET Journal of Inborn Errors of Metabolism and Screening v.9 2021 Journal of Inborn Errors of Metabolism and Screening Instituto Genética para Todos (IGPT) instacron:IGPT Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20200027, Published: 17 MAR 2021 |
| ISSN: | 2326-4594 |
| Popis: | Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a disorder of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its variants, HPRT-related hyperuricemia with neurologic dysfunction (HND) and HPRT-related hyperuricemia (HRH). The objective of this study was to characterize a cohort of Argentine patients with HPRT deficiency diagnosed in a single center. Results: Twenty nine patients were studied, including 12 LND, 15 HND and 2 HRH. The average onset age was 0.64 years for LND with motor delay as the main manifestation, 8.84 years for HND and 2.5 years for HRH; nephrological manifestations predominated as presenting features in these variants. The average diagnosis age was 3.58 years for LND, 17.21 years for HND and 2.5 years for HRH. Clinical heterogeneity was more evident in HND, even in members of the same family. All patients presented hyperuricemia and no detectable HPRT activity in erythrocyte lysate. The molecular study allowed to identify 9 different mutations in HPRT1 gene from 24 patients (11 independent pedigrees) and to establish genotype-phenotype correlation. In conclusion, this study describes the genotypic/phenotypic spectrum of HPRT deficiency in Argentine patients and highlights the need to increase awareness about the suspicion of these diseases, especially the LND variants with high clinical heterogeneity. Fil: Laróvere, Laura Elena. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Fairbanks, Lynette D.. Purine Research Laboratory, St. Thomass Hosp; Reino Unido Fil: Jinnah, H. A.. University of Emory; Estados Unidos Fil: Guelbert, Norberto Bernardo. Hospital de Niños de la Santísima Trinidad, Córdoba; Argentina Fil: Escuredo, Emilia. Purine Research Laboratory, St. Thomass Hosp; Reino Unido Fil: Becerra, Adriana Berónica. Hospital de Niños de la Santísima Trinidad, Córdoba; Argentina Fil: Dodelson de Kremer, Raquel. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina |
| Databáze: | OpenAIRE |
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