目的 探讨Shwachman -Diamond 综合征（SDS）的临床特征、诊断及治疗，以提高临床医生对该疾病的认识。 方法 回顾性分析1例以中性粒细胞减少和转氨酶水平升高为主要临床表现，经基因检测明确诊断为 SDS患儿的临床资料，并结合相关资料分析 SDS的临床表现、基因特征、诊断和治疗方法。 结果 患儿，男性，27月龄。以中性粒细胞减少和转氨酶水平升高为首发临床表现，患儿既往3月龄时出现腹泻，口服胰酶散治疗后腹泻好转，近半年反复呼吸道感染。入院查体显示牙釉质发育不良，影像学表现为四肢长骨骨质密度异常，基因测序结果提示患儿Shwachman-Bodian-Diamond综合征（SBDS）基因c.258+2T>C纯合变异。住院期间给予保肝和增加粒细胞等对症支持治疗，患儿病情好转后出院，随访 1 年，患儿病情稳定。 结论 SDS 患儿典型表现为腹泻，肝功能、血象和骨骼异常，尤其是中性粒细胞减少，也可能存在生长发育落后，心脏、肝脏、中枢神经系统、骨骼和免疫系统受累，对疑似患儿及时进行基因检测，有助于SDS患儿早期诊断及治疗。

Objective To discuss the clinical characteristics， diagnosis， and treatment of Shwachman-Diamond syndrome （SDS）， and to enhance the clinicians’ awareness of the disease. Methods The clinical materials of one patient diagnosed with SDS， primarily presented with neutropenia and elevated transaminase levels， confirmed by genetic testing were retrospectively analyzed. The clinical manifestations， genetic features， diagnosis， and treatment methods of SDS were analyzed complemented with the relevant literatures. Results This patient was a male child， aged 27 months. His initial clinical presentations were neutropenia and elevated transaminase levels. The patient had previously experienced diarrhea when the patient was 3 months old， which improved after treated with oral pancreatic enzyme dispersion. Over the past six months， the patient had recurrent respiratory infections. Upon admission， the examination results showed there was dental enamel hypoplasia， and the imaging results showed the abnormal bone density in the long bones of the limbs.The genetic sequencing results showed a homozygous mutation in the Shwachman-Bodian-Diamond syndrome（SBDS） gene （c.258+2T>C）. During hospitalization， the patient received the hepatoprotective care and granulocyte augmentation supportive treatment， leading to an improvement in his condition， and the patient was discharged. During a one-year follow-up， the patient’s condition was stable. Conclusion The typical presentation of the SDS patient includes diarrhea， liver function abnormalities， hematologic abnormalities， and skeletal anomalies， particularly neutropenia； there may also be developmental delays and involvement of the heart， liver， central nervous system， skeleton， and immune system. The genetic testing of suspected children is crucial， and it can aid in the early diagnosis and treatment of SDS patients.