关键词: Shwachman-Diamond综合征, 肝功能异常, 中性粒细胞减少, 基因检测

Abstract:

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.

Key words: Shwachman-Diamond syndrome, Abnormal liver function, Neutropenia, Genetic testing