[施瓦赫曼-戴蒙德综合征。病例报告]

[Shwachman-Diamond syndrome. A case report].

作者信息

Macipe Costa R Maria, Javierre Miranda E, Lou Francés Maria G, Heredia González S, Calvo Martín Maria T

机构信息

Sección de Gastroenterología, Hospital Universitario Miguel Servet, Zaragoza, España.

出版信息

An Pediatr (Barc). 2006 Jul;65(1):79-82. doi: 10.1157/13090901.

DOI:10.1157/13090901

PMID:16945294

Abstract

Shwachman-Diamond syndrome is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities, and short stature. We describe the clinical characteristics, laboratory data, and treatment in a 14-month-old boy diagnosed with this syndrome in our unit.

摘要

施瓦赫曼-戴蒙德综合征是一种罕见的常染色体隐性疾病，其特征为外分泌胰腺功能不全、骨髓功能障碍、骨骼异常和身材矮小。我们描述了在我们科室诊断出患有该综合征的一名14个月大男孩的临床特征、实验室数据及治疗情况。