Email this article Shwachman-Diamond syndrome
- Authors: Vinokurova LV1, Dubtsova EA1, Iashina NI2, Shuliat'ev IS1, Osipenko I.V1
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Affiliations:
- Московский клинический научно-практический центр. ЦНИИ гастроэнтерологии Департамента здравоохранения Москвы
- Институт хирургии им. А.В. Вишневского, Москва
- Issue: Vol 86, No 2 (2014)
- Pages: 72-75
- Section: Editorial
- URL: https://journal-vniispk.ru/0040-3660/article/view/31456
- ID: 31456
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Abstract
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.
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##article.viewOnOriginalSite##About the authors
L V Vinokurova
Московский клинический научно-практический центр. ЦНИИ гастроэнтерологии Департамента здравоохранения Москвы
Email: vinokurova52@mail.ru
Москва, ш. Энтузиастов, д. 86
E A Dubtsova
Московский клинический научно-практический центр. ЦНИИ гастроэнтерологии Департамента здравоохранения Москвы
N I Iashina
Институт хирургии им. А.В. Вишневского, Москва
I S Shuliat'ev
Московский клинический научно-практический центр. ЦНИИ гастроэнтерологии Департамента здравоохранения Москвы
Iu V Osipenko
Московский клинический научно-практический центр. ЦНИИ гастроэнтерологии Департамента здравоохранения Москвы
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