Specific features of the clinical and laboratory diagnosis of Lesch—Nyhan syndrome and current therapy options
The rare hereditary diseases encountered in the practice of pediatricians, pediatric neurologists, and geneticists include Lesch—Nyhan syndrome associated with purine metabolic disorders caused by mutations in the HPRT1 gene encoding the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT)....
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| Format: | Article |
| Language: | Russian |
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Ltd. “The National Academy of Pediatric Science and Innovation”
2016-03-01
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| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
| Subjects: | |
| Online Access: | https://www.ped-perinatology.ru/jour/article/view/136 |
| _version_ | 1797875323595915264 |
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| author | M. I. Yablonskaya P. V. Novikov E. G. Agapov I. V. Zolkina E. A. Yuryeva M. N. Kharabadze |
| author_facet | M. I. Yablonskaya P. V. Novikov E. G. Agapov I. V. Zolkina E. A. Yuryeva M. N. Kharabadze |
| author_sort | M. I. Yablonskaya |
| collection | DOAJ |
| description | The rare hereditary diseases encountered in the practice of pediatricians, pediatric neurologists, and geneticists include Lesch—Nyhan syndrome associated with purine metabolic disorders caused by mutations in the HPRT1 gene encoding the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). HGPRT deficiency gives rise to hyperuricemia, hyperuricemic nephropathy, and a CNS lesion reminiscent of dystonic or hyperkinetic infantile cerebral paralysis concurrent with a propensity to have autoaggressive behavior. The diagnosis is based on a range of history data, characteristic neurological symptoms, the detection of high blood and urine uric acid levels, and the identification of pathogenic mutagens in the HPRT1 gene. Early diagnosis contributes to timely therapy and assists in medical genetic counseling. The paper describes a clinical case of a boy with Lesch-Nyhan syndrome and elucidates the problems of diagnosis and treatment of this disease. |
| first_indexed | 2024-04-10T01:45:50Z |
| format | Article |
| id | doaj.art-a510152c9965447f866eff2d487316d5 |
| institution | Directory Open Access Journal |
| issn | 1027-4065 2500-2228 |
| language | Russian |
| last_indexed | 2024-04-10T01:45:50Z |
| publishDate | 2016-03-01 |
| publisher | Ltd. “The National Academy of Pediatric Science and Innovation” |
| record_format | Article |
| series | Rossijskij Vestnik Perinatologii i Pediatrii |
| spelling | doaj.art-a510152c9965447f866eff2d487316d52023-03-13T09:12:40ZrusLtd. “The National Academy of Pediatric Science and Innovation”Rossijskij Vestnik Perinatologii i Pediatrii1027-40652500-22282016-03-016045762129Specific features of the clinical and laboratory diagnosis of Lesch—Nyhan syndrome and current therapy optionsM. I. Yablonskaya0P. V. Novikov1E. G. Agapov2I. V. Zolkina3E. A. Yuryeva4M. N. Kharabadze5ОСП «Научно-исследовательский клинический институт педиатрии» ГБОУ ВПО РНИМУ им. Н.И. Пирогова, МоскваОСП «Научно-исследовательский клинический институт педиатрии» ГБОУ ВПО РНИМУ им. Н.И. Пирогова, МоскваОСП «Научно-исследовательский клинический институт педиатрии» ГБОУ ВПО РНИМУ им. Н.И. Пирогова, МоскваОСП «Научно-исследовательский клинический институт педиатрии» ГБОУ ВПО РНИМУ им. Н.И. Пирогова, МоскваОСП «Научно-исследовательский клинический институт педиатрии» ГБОУ ВПО РНИМУ им. Н.И. Пирогова, МоскваОСП «Научно-исследовательский клинический институт педиатрии» ГБОУ ВПО РНИМУ им. Н.И. Пирогова, МоскваThe rare hereditary diseases encountered in the practice of pediatricians, pediatric neurologists, and geneticists include Lesch—Nyhan syndrome associated with purine metabolic disorders caused by mutations in the HPRT1 gene encoding the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). HGPRT deficiency gives rise to hyperuricemia, hyperuricemic nephropathy, and a CNS lesion reminiscent of dystonic or hyperkinetic infantile cerebral paralysis concurrent with a propensity to have autoaggressive behavior. The diagnosis is based on a range of history data, characteristic neurological symptoms, the detection of high blood and urine uric acid levels, and the identification of pathogenic mutagens in the HPRT1 gene. Early diagnosis contributes to timely therapy and assists in medical genetic counseling. The paper describes a clinical case of a boy with Lesch-Nyhan syndrome and elucidates the problems of diagnosis and treatment of this disease.https://www.ped-perinatology.ru/jour/article/view/136детисиндром леша—найханаобмен пуриновдиагностикалечениеаллопуринол. |
| spellingShingle | M. I. Yablonskaya P. V. Novikov E. G. Agapov I. V. Zolkina E. A. Yuryeva M. N. Kharabadze Specific features of the clinical and laboratory diagnosis of Lesch—Nyhan syndrome and current therapy options Rossijskij Vestnik Perinatologii i Pediatrii дети синдром леша—найхана обмен пуринов диагностика лечение аллопуринол. |
| title | Specific features of the clinical and laboratory diagnosis of Lesch—Nyhan syndrome and current therapy options |
| title_full | Specific features of the clinical and laboratory diagnosis of Lesch—Nyhan syndrome and current therapy options |
| title_fullStr | Specific features of the clinical and laboratory diagnosis of Lesch—Nyhan syndrome and current therapy options |
| title_full_unstemmed | Specific features of the clinical and laboratory diagnosis of Lesch—Nyhan syndrome and current therapy options |
| title_short | Specific features of the clinical and laboratory diagnosis of Lesch—Nyhan syndrome and current therapy options |
| title_sort | specific features of the clinical and laboratory diagnosis of lesch nyhan syndrome and current therapy options |
| topic | дети синдром леша—найхана обмен пуринов диагностика лечение аллопуринол. |
| url | https://www.ped-perinatology.ru/jour/article/view/136 |
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