Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press1210.17650/2222-8721-2014-0-1-54-61CLINICAL CASEКЛИНИЧЕСКИЙ РАЗБОРCase report of a child with combined genetic pathology: cystic fibrosis and facioscapulohumeral progressive muscular dystrophyКлиническое наблюдение ребенка с сочетанной генетической патологией: муковисцидозом и лице-лопаточно-плечевой прогрессирующей миодистрофиейKlochkovaO. A.КлочковаО. А.
Russian Federation
klochkova_oa@nczd.ruKurenkovA. L.КуренковА. Л.
Russian Federation
MamedyarovA. M.МамедъяровА. М.
Russian Federation
KarimovaH. M.КаримоваХ. М.
Russian Federation
Research Center of Child Health, Russian Academy of Medical Sciences, MoscowФГБУ «Научный центр здоровья детей» РАМН, Москва190420144154611902201519022015Copyright ©; 2014, Klochkova O.A., Kurenkov A.L., Mamedyarov A.M., Karimova H.M.Copyright ©; 2014, Клочкова О.А., Куренков А.Л., Мамедъяров А.М., Каримова Х.М.2014Klochkova O.A., Kurenkov A.L., Mamedyarov A.M., Karimova H.M.Клочкова О.А., Куренков А.Л., Мамедъяров А.М., Каримова Х.М.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/12

The article presents a rare case of a child with a laboratory confirmed combination of several inherited diseases: cystic fibrosis (mutations F508del and E92K) and facioscapulohumeral progressive muscular dystrophy (FSHD). Through the example of the case authors describe the clinical findings of the infantile form of FSHD and the results of prolonged patient’s follow-up. Own clinical data are compared to the literature review. There is also a discussion about genetic heterogeneity of FSHD and complex rehabilitation approaches in case of associated genetic pathology.

В статье представлено описание редкого клинического наблюдения ребенка с сочетанной подтвержденной наследственной патологией: муковисцидозом (мутации F508del и Е92К) и лице-лопаточно-плечевой миодистрофией (ЛЛПМ) (мозаичная делеция 4q35 хромосомы). На примере описываемого случая представлена клиническая картина инфантильной формы ЛЛПМ, приведены результаты катамнестического наблюдения пациентки. Собственные клинические наблюдения сопоставлены с данными литературы о ЛЛПМ, обсужден вопрос генетической гетерогенности ЛЛПМ. Также рассматривается необходимость мультидисциплинарного подхода при реабилитации и лечении подобных пациентов в условиях сопутствующей наследственной патологии.

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