Guo Hai-Jun
Department of Hepatic, Xingtai People's Hospital, Xingtai 054001, Hebei Province, China.
World J Hepatol. 2025 Jun 27;17(6):108558. doi: 10.4254/wjh.v17.i6.108558.
Shwachman-Diamond syndrome (SDS) is a rare genetic disorder that affects multiple organs, primarily the liver. Most patients are diagnosed during infancy or early childhood. As they grow older, the majority of affected children may experience spontaneous remission, and cases of cirrhosis in adults are rarely reported.
A 36-year-old male patient presented with massive ascites. Laboratory tests revealed pancytopenia and a serum-ascites albumin gradient greater than 1.1 g/dL. An abdominal computed tomography scan demonstrated cirrhosis, splenomegaly, pancreatic fat infiltration, and a substantial accumulation of peritoneal fluid. Gastroscopy identified esophageal varices. Liver stiffness measurement indicated a value of 32.7 kPa. Based on the results of auxiliary examinations, common causes of cirrhosis were excluded, and a mutation in the gene was ultimately identified through whole-exome sequencing. The patient was diagnosed with cirrhosis secondary to SDS. Following the correction of hypoalbuminemia and administration of diuretics, the patient's ascites resolved.
Patients with liver cirrhosis who also exhibit pancreatic fat infiltration and pancytopenia necessitate further exon testing to exclude the possibility of SDS.
施瓦赫曼-戴蒙德综合征（SDS）是一种罕见的遗传性疾病，可影响多个器官，主要是肝脏。大多数患者在婴儿期或幼儿期被诊断出来。随着年龄的增长，大多数受影响的儿童可能会自发缓解，成人肝硬化病例很少报道。
一名36岁男性患者出现大量腹水。实验室检查显示全血细胞减少，血清-腹水白蛋白梯度大于1.1 g/dL。腹部计算机断层扫描显示肝硬化、脾肿大、胰腺脂肪浸润和大量腹腔积液。胃镜检查发现食管静脉曲张。肝脏硬度测量值为32.7 kPa。根据辅助检查结果，排除了肝硬化的常见病因，最终通过全外显子组测序确定了基因中的一个突变。该患者被诊断为继发于SDS的肝硬化。在纠正低白蛋白血症并给予利尿剂后，患者的腹水消退。
同时出现胰腺脂肪浸润和全血细胞减少的肝硬化患者需要进一步进行外显子检测，以排除SDS的可能性。
