Annals of the Russian academy of medical sciencesAnnals of the Russian academy of medical sciencesВестник Российской академии медицинских наук0869-60472414-3545"Paediatrician" Publishers LLC23810.15690/vramn.v67i12.483SHORT MESSAGESКРАТКИЕ СООБЩЕНИЯCLINICAL AND GENETIC SPECIAL FEATURES OF NIEMANN-PICK DISEASE, TYPE CКЛИНИКО-ГЕНЕТИЧЕСКИЕ ОСОБЕННОСТИ БОЛЕЗНИ НИМАННА–ПИКА, ТИП СZakharovaE. Yu.ЗахароваЕ. Ю.
Russian Federation

Candidate of Medical Sciences, Head of Laboratory of Hereditary Metabolism Disorders, Medical-Genetic Scientific Center, Russian Academy of Medical Sciences Address: 115478, Moscow, Moskvorechye str., 1; Tel.: (499) 324-20-04

neonatepearl@yandex.ruMikhailovaS. V.МихайловаС. В.
Russian Federation

PhD, Head of Medical Genetics Department, Russian Children’s Clinical Hospital Address: 117997, Moscow, Leninskiy av., 117; Tel: (495) 936-94-20

neonatepearl@yandex.ruProshlyakovaT. Yu.ПрошляковаТ. Ю.
Russian Federation
neonatepearl@yandex.ruRudenskayaG. E.РуденскаяГ. Е.
Russian Federation

PhD, Head Scientific Worker, Scientific Consultative Department, Medical-Genetic Scientific Center, Russian Academy of Medical Sciences Address: 115478, Moscow, Moskvorechye str., 1; Tel.: (499) 324-87-72

neonatepearl@yandex.ruResearch Centre of Medical Genetics of RAMS, Moscow, Russian FederationМедико-генетический научный центр РАМН, Москва, Российская ФедерацияRussian Clinical Children’s Hospital of Ministry of Healthcare of Russian Federation, Moscow, Russian FederationРоссийская детская клиническая больница Минздрава, Москва, Российская Федерация101220126712Вестник Российской академии медицинских наук606507082015Copyright ©; 2012, "Paediatrician" Publishers LLCCopyright ©; 2012, Издательство "Педиатръ"2012"Paediatrician" Publishers LLCИздательство "Педиатръ"https://vestnikramn.spr-journal.ru/jour/article/view/238

Niemann-Pick disease, type C is a rare hereditary disorder of the group of lisosomal storage diseases, caused by mutations in the genes NPC1 or NPC2. Depending on the onset age, several clinical forms of this disease, which differs by manifestation age, main clinical signs and clinical course, are distinguished. Niemann-Pick disease type C can imitate other hereditary and acquired diseases, which complicates its early diagnostics. Clinical and genetic diversity of this disorder, considered on the clinical cases diagnosed at the FSI «RCMG» of RAMS, are discussed in this review.

Болезнь Ниманна–Пика, тип С — редкое наследственное заболевание из класса лизосомных болезней накопления, обусловленное мутациями в генах NPC1 или NPC2. В зависимости от времени начала заболевания выделяют несколько клинических форм, различающихся по возрасту манифестации, основным клиническим проявлениям и характеру течения. Болезнь Ниманна–Пика, тип С может протекать под масками других наследственных и приобретенных заболеваний, что затрудняет ее раннюю диагностику. В данной публикации обсуждается клинико-генетическое разнообразие данной патологии, рассмотренное на случаях, диагностированных в ФГБУ «МГНЦ» РАМН.

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