Abstract: 　Objective　To explore the clinical and genetic characteristics of Shwachman-Diamond syndrome (SDS). Methods　The clinical data of SDS in a child diagnosed by gene detection were analyzed retrospectively, and the clinical manifestations, gene characteristics and treatment of SDS were summarized based on the related literature. Results　 The 14-month-old boy presented with recurrent abnormal liver function as the first clinical manifestation, accompanied by developmental retardation. The absolute peripheral neutrophil count was less than 1.5×109/L. There was no typical pancreatic exocrine dysfunction in the children, the X-ray of the long bones of the limbs showed bone age lag with abnormal bone density, and the abdominal CT showed no pancreatic fatty infiltration. Gene sequencing suggested the c.258+2T>C homozygous variation of SBDS gene. Conclusions　SDS is typically characterized by pancreatic fat infiltration and exocrine dysfunction, hematological abnormalities (especially neutropenia), and skeletal abnormalities. Timely genetic testing of suspected children helps early diagnosis and treatment.

Key words: Shwachman-Diamond syndrome;　abnormal liver function;　genetic testing