Синдром Швахмана-Даймонда
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В статье представлено описание случая этого редкого заболевания у 28-летнего мужчины, имеющего все характерные проявления в виде липоматоза и внешнесекреторной недостаточности поджелудочной железы тяжелой степени, нейтропении с гипоплазией костного мозга, задержки физического развития, нарушения толерантности к глюкозе, вторичной остеопении и малых аномалий развития сердца. Клинический диагноз подтвержден результатами молекулярно-генетического исследования.
Ключевые слова: синдром Швахмана—Даймонда, липоматоз, поджелудочная железа, нейтропения.
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Shwachman-Diamond syndrome is an inherited autosomal recessive disease that appears as exocrine pancreatic insufficiency, neutropenia, impaired neutrophil chemotaxis, aplastic anemia, thrombocytopenia, metaphyseal dysplasia, and physical retardation.
Its worldwide prevalence is 1:10,000 to 1:20,000 live births depending on the region. The SBDS gene and a few mutations, which lead to this syndrome, have been found in the past decade.
The paper describes a case of this rare disease in a 28-year-old male patient who has all characteristic manifestations as lipomatosis and severe exocrine pancreatic insufficiency, neutropenia with bone marrow hypoplasia, physical retardation, glucose intolerance, secondary osteopenia, and minor cardiac anomalies. Its clinical diagnosis was verified by molecular genetic testing.
Key words: Shwachman—Diamond syndrome, lipomatosis, pancreas, neutropenia.
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1 Московский клинический научно-практический центр. ЦНИИ гастроэнтерологии Департамента здравоохранения Москвы;
2 Институт хирургии им. А.В. Вишневского, Москва
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L.V. VINOKUROVA 1, E.A. DUBTSOVA 1, N.I. YASHINA 2, I.S. SHULYATYEV 1, YU.V. OSIPENKO 1
1 Central Research Institute of Gastroenterology, Moscow Clinical Research and Practical Center, Moscow Healthcare Department;
2 A.V.Vishnevsky Institute of Surgery, Moscow