Shwachman-Diamond syndrome


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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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Синдром Швахмана-Даймонда. - Аннотация. Синдром Швахмана-Даймонда - наследуемое по аутосомно-рецессивному типу заболевание, проявляющееся недостаточностью экзокринной функции поджелудочной железы, нейтропенией, нарушением хемотаксиса нейтрофилов, апластической анемией, тромбоцитопенией, метафизарной дисплазией, задержкой физического развития. Распространенность в мире в зависимости от региона составляет от 1:10 000 до 1:20 000 живых новорожденных. В последнее десятилетие выявлены ген SBDS и несколько мутаций, приводящих к развитию данного синдрома. 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.
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References

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