vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v18i3.2036vsp-2138Research ArticleКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCLINICAL OBSERVATIONSГомоцистинурия: литературный обзор и описание клинического случаяHomocystinuria: Literature Review and Clinical Case Descriptionhttps://orcid.org/0000-0002-2335-3023БучинскаяН. В.BuchinskayaNatalia V.https://orcid.org/0000-0002-0911-7817ИсуповаЕ. А.IsupovaEugenia A.https://orcid.org/0000-0002-1180-8086КостикМ. М.KostikMikhail M.

доктор медицинских наук, профессор кафедры госпитальной педиатрии

kost-mikhail@yandex.ruСанкт-Петербургский государственный педиатрический медицинский университет; Диагностический центр (медико-генетический)РоссияSaint Petersburg State Pediatric Medical University; Diagnostic (Medical Genetic) Center, Saint PetersburgRussian FederationСанкт-Петербургский государственный педиатрический медицинский университетРоссияSaint Petersburg State Pediatric Medical UniversityRussian FederationСанкт-Петербургский государственный педиатрический медицинский университет; Национальный медицинский исследовательский центр имени В.А. АлмазоваРоссияSaint Petersburg State Pediatric Medical University; Almazov National Medical Research CentreRussian Federation201918092019183187195Copyright © Бучинская Н.В., Исупова Е.А., Костик М.М., 20192019Бучинская Н.В., Исупова Е.А., Костик М.М.Buchinskaya N.V., Isupova E.A., Kostik M.M.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vsp.spr-journal.ru/jour/article/view/2138

Гомоцистинурия — редкое аутосомно-рецессивное моногенное заболевание, связанное с нарушением метаболизма метионина вследствие дефицита печеночного фермента цистатион--синтетазы (СBS), которое в свою очередь обусловливает повышенную концентрацию гомоцистеина и его метаболитов в крови и моче. Основными клиническими проявлениями гомоцистинурии являются миопия, эктопия хрусталиков, задержка психомоторного развития, трудности в обучении, умственная отсталость, психические заболевания, проблемы с поведением, судороги, симптомы поражения экстрапирамидной системы, скелетные аномалии (высокий рост), длинные конечности — долихостеномелия и арахнодактилия (марфаноидый фенотип), килевидная грудная клетка, вальгусная деформация нижних конечностей, сколиоз, остеопороз, тромбоэмболические осложнения. Диагностика гомоцистинурии основывается на клинической симптоматике и лабораторных изменениях — повышении уровней метионина и гомоцистеина в плазме крови. Возможны пренатальная и ДНК-диагностика (выявление вариантов в гене СBS). Выявление гомоцистинурии дает основание к обследованию ближайших родственников. Терапия пациентов с гомоцистинурией помимо диетотерапии включает применение пиридоксина, фолиевой кислоты, бетаина. Используется посиндромная сопутствующая терапия. В статье приводится описание пациента с тяжелой витамин В6-независимой формой гомоцистинурии.

Homocystinuria is rare autosomal-recessive monogenic disorder associated with disturbance of methionine metabolism due to liver enzyme cystathionine--synthetase (CBS) deficit. That in turn causes elevated concentration of homocystein and its metabolites in blood and urine. The main clinical manifestations of homocystinuria are: myopia, ectopia lentis, psychomotor retardation, learning difficulties, mental retardation, mental illnesses, behaviour problems, paroxysms, extrapyramidal symptoms, skeletal anomalies (body height), long limbs — dolichostenomelia and arachnodactylia (Marfan Phenotype), pectus carinatum, valgus lower limbs, scoliosis, osteoporosis, thromboembolic disorders. Diagnostics of homocystinuria is based on clinical findings and laboratory changes (increase of methionine and homocysteine levels in serum). There is prenatal and DNA-diagnostics (genetic variants in CBS gene). Revealing of homocystinuria demands examination of first-degree relatives. Therapy of patients with homocystinuria includes not only diet therapy but also pyridoxine, folic acid, betaine administration. Syndromic concomitant therapy is also used. The description of the patient with severe B6-resistant form of homocystinuria is given in this article.

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