以体重增长缓慢为主要临床表现的Shwachman-Diamond综合征2例临床诊治分析

Clinical diagnosis and treatment analysis of two cases of Shwachman-Diamond syndrome with slow weight gain as the main clinical manifestation

目的探讨Shwachman-Diamond综合征(SDS)的临床特征及其早期诊治。方法总结2例SDS患儿的诊治经过;复习国内外对该病的最新研究进展,总结其主要临床表现及治疗。结果SDS初期临床表现不典型,生长障碍和脂肪泻是部分SDS患儿的首发表现,血清淀粉酶/脂肪酶下降提示胰腺功能不全,临床医生应对这类患儿尽早进行基因学检查明确诊断;伴髓系恶性转化的SDS患者预后较差。结论SDS病变可累及多系统,主要临床表现为生长障碍、骨髓衰竭和胰腺外分泌功能障碍。对于症状不典型者要尽早行基因学检查明确诊断。SDS有向骨髓增生异常综合征/急性髓系白血病转化的风险,需要定期监测骨髓,以提高患者的长期生存。

Objective To investigate the clinical features and early diagnosis and treatment of Shwachman-Diamond syndrome(SDS).Methodss The diagnosis and treatment of two cases with SDS were summarized.The latest research progress of the disease were also searched to summarize the main clinical manifestations and treatment.Results The initial clinical manifestations of SDS were not typical.Growth disorders and fatty diarrhea were the first manifestations of some children with SDS.It indicated pancreatic insufficiency that reduced of serum amylase or lipase.Clinicians should conduct genetic examination as soon as possible to make a definite diagnosis for these children.The prognosis of SDS patients with myeloid malignant transformation was poor.Conclusion SDS can involve multiple systems.The main clinical manifestations are growth disorder,bone marrow failure and pancreatic exocrine dysfunction.For those with atypical symptoms,genetic examination should be performed as early as possible to make a definite diagnosis.SDS has the risk of conversion to myelodysplastic syndromes or acute myeloid leukemia,and bone marrow needs to be monitored regularly to improve the long-term survival of patients.