perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”perinatology-136Research ArticleНАСЛЕДСТВЕННЫЕ БОЛЕЗНИHEREDITARY DISEASESОсобенности клинико-лабораторной диагностики синдрома Леша—Найхана и современные возможности терапииSpecific features of the clinical and laboratory diagnosis of Lesch—Nyhan syndrome and current therapy optionsЯблонскаяМ. И.YablonskayaM. I.

к.м.н., схн.с. отделения психоневрологии и наследственных заболеваний с нарушением психики НИКИ педиатрии РНИМУ им. Н.И. Пирогова

НовиковП. В.NovikovP. V.

д.м.н., проф., руководитель того же отделения

АгаповЕ. Г.AgapovE. G.

к.м.н., зам. гл. врача учреждения психоневрологии и наследственных заболеваний с поражением ЦНС и нарушением психики у детей НИКИ педиатрии РНИМУ им. Н.И. Пирогова

ЗолкинаИ. В.ZolkinaI. V.

к.б.н., в.н.с. научно-исследовательской лаборатории общей патологии учреждения

ЮрьеваЭ. А.YuryevaE. A.

д.м.н., проф., гл.н.с.тойже лаборатории 125412 Москва, ул.Талдомская, д. 2

ХарабадзеМ. Н.KharabadzeM. N.

к.м.н., зав. отделением психоневрологии и наследственных заболеваний с поражением ЦНС и нарушением психики у детей НИКИ педиатрии РНИМУ им. Н.И. Пирогова

ОСП «Научно-исследовательский клинический институт педиатрии» ГБОУ ВПО РНИМУ им. Н.И. Пирогова, МоскваРоссияResearch Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, MoscowRussian Federation2015130320166045762Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20162016Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/136

К редким наследственным болезням, встречающимся в практике педиатров, детских неврологов, генетиков, относится синдром Леша—Найхана, связанный с нарушением обмена пуринов вследствие мутации в гене HPRT1, кодирующем фермент гипоксантин-гуанинфосфорибозилтрансферазу (ГФРТ). Недостаточность ГФРТ приводит к развитию гиперурикемии, мо-чекислой нефропатии и поражению ЦНС, напоминающему дистоническую или гиперкинетическую форму детского церебрального паралича, в сочетании со склонностью к аутоагрессивному поведению. Диагностика основана на совокупности анамнестических сведений, характерных неврологических симптомов, выявления высокого уровня мочевой кислоты в крови и моче и идентификации патогенных мутаций в гене HPRT1. Раннее установление диагноза способствует своевременному назначению терапии и помогает в проведении медико-генетического консультирования. В статье приводится клиническое наблюдение мальчика с синдромом Леша—Найхана, освещаются вопросы диагностики и лечения данного заболевания.

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.

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The authors declare that there are no conflicts of interest present.