Camacho Sandra M, McLoughlin Lucille, Nowicki Michael J
Division of Pediatric Gastroenterology, University of Mississippi Medical Center, Jackson, MS 39216, United States.
Division of Pediatric Gastroenterology, Children's Hospital of San Antonio, San Antonio, TX 78207, United States.
World J Clin Cases. 2019 Jun 26;7(12):1456-1460. doi: 10.12998/wjcc.v7.i12.1456.
The features of Shwachman-Diamond syndrome (SDS) include exocrine pancreatic insufficiency, skeletal abnormalities and bone marrow dysfunction; an often overlooked feature is hepatic involvement.
We report a child who initially presented with failure to thrive and mildly elevated transaminase levels and was determined to have pancreatic insufficiency due to SDS. During follow-up he had persistently elevated transaminase levels and developed hepatosplenomegaly. An investigation was performed to determine the etiology of ongoing liver injury, including a liver biopsy which revealed hepatic cirrhosis.
Cirrhosis has rarely been reported with SDS. While many of the hepatic disorders associated with SDS improve with age, there are rare exceptions with serious implications for long-term outcome.
施瓦赫曼-戴蒙德综合征（SDS）的特征包括外分泌胰腺功能不全、骨骼异常和骨髓功能障碍；一个常被忽视的特征是肝脏受累。
我们报告一名儿童，最初表现为生长发育迟缓及转氨酶水平轻度升高，经诊断因SDS导致胰腺功能不全。在随访期间，他的转氨酶水平持续升高，并出现肝脾肿大。为确定持续性肝损伤的病因进行了相关检查，包括肝活检，结果显示为肝硬化。
SDS合并肝硬化的报道很少见。虽然许多与SDS相关的肝脏疾病会随着年龄增长而改善，但也有罕见的例外情况，对长期预后有严重影响。
