关键词: Shwachman-Diamond 综合征, 基因分析, 转氨酶升高, 儿童

Abstract: Objective To analyze the clinical characteristics of four pediatric cases of Shwachman-Diamond Syndrome (SDS) and to enhance the understanding of SDS among pediatricians. Methods We retrospectively analyzed the clinical data from four children diagnosed with SDS at the Guangzhou Women and Children′s Medical Center from May 2018 to July 2023, who presented with elevated transaminases as their initial symptom. Results The four children included two males and two females. All four children were referred for elevated transaminases detected during routine health checks, with ALT levels ranging from 133 to 327 U/L and AST levels from 116 to 248 U/L. Longitudinal biochemical monitoring showed a gradual decrease in transaminases with age, with all levels returning to normal between 36 and 42 months of age. All four children exhibited growth retardation. One child had a history of chronic diarrhea in infancy. Two children presented with hematopoietic abnormalities. Genetic sequencing and familial verification identified SBDS gene mutations in all four children. Conclusion SDS presents with a complex and varied clinical picture, involving multiple systems. Transient, unexplained liver function abnormalities may occur in early childhood, particularly in cases associated with growth retardation. Genetic testing can be instrumental in establishing a definitive diagnosis.

Key words: Shwachman-Diamond syndrome, Genetic analysis, Elevated transaminases, Children