Shwachman-Diamond综合征病例报告一例并相关文献复习

发布时间：2018-09-06 15:06

【摘要】：研究背景:Shwachman-Diamond 综合征(Shwachman-Diamond syndrome,SDS)是一种罕见的常染色体隐性遗传病,其特征是胰腺外分泌功能不全、先天性躯体畸形及骨髓造血衰竭,进展为骨髓异常增生综合征(myelodysplastic syndrome,MDS)/白血病,尤其是急性髓系白血病(acute myeloid leukemia,AML)的风险高[1]。SDS相关的突变基因为SBDS,位于染色体7q11,90%以上患者存在本基因突变[2]。研究目的:本研究通过对一例临床表现为身材矮小,双下肢畸形,反复发热感染和脂肪泄的32岁青年男性患者进行全面的体格检查、及相应的辅助检查,明确诊断;针对患者的造血系统紊乱进行对症支持治疗;查阅相关文献进行讨论,以完善对该病的认识,提高诊治水平。研究对象和方法:(1)研究对象32岁男性,因"面色苍白、乏力、发热、咳嗽1月余"入院。(2)研究方法1.对患者进行全面的体格检查,发现其身材矮小,发育不良,行走欠灵活,双下肢股骨侧弯畸形;2.对患者家族史进行询问,发现其有一哥哥因造血功能衰竭于3个月前去世,同样有发育不良和双下肢畸形等症状;3.抽取患者静脉血,行血常规、肝肾功、血生化、凝血系列等常规检查;查脂肪酶、淀粉酶评估其胰腺外分泌功能;查维生素系列、叶酸,评估其是否存在营养性贫血;查找病原体,以针对性治疗肺部感染;4.对患者进行胸腹CT平扫,评估其肺部感染和胰腺发育情况;5.行骨髓细胞学+活检检查,评估其骨髓造血情况;行免疫分型、基因、染色体检查,排除相关血液系统疾病;对SBDS等已知常见致病基因进行测序,寻找分子学诊断依据;6.查阅相关文献,讨论该病的诊断、鉴别诊断、致病机制,总结该病的治疗方法,更好地认识这种疾病。结果:根据患者的临床表现和辅助检查结果,诊断为:1.Shwachman-Diamond综合征2.肺部感染(真菌、细菌)3.Ⅰ型糖尿病。结论:对先天性的骨髓造血功能衰竭(或者表现为急性白血病、骨髓异常增生综合征),同时和并先天躯体发育不良和胰腺外分泌功能障碍的患者应考虑Shwachman-Diamond综合征的可能,在诊断上需要寻求临床和分子生物学的证据才能加以确诊。
[Abstract]:Background: Shwachman-Diamond syndrome (Shwachman-Diamond syndrome,SDS) is a rare autosomal recessive disease characterized by pancreatic exocrine dysfunction, congenital somatic malformation and bone marrow hematopoietic failure, and progression to myelodysplastic syndrome (myelodysplastic syndrome,MDS) / leukemia. In particular, acute myeloid leukemia (acute myeloid leukemia,AML) has a high risk of [1] .SDS-associated mutation because SBDS, is located on chromosome 7q1190% of patients with this gene mutation [2]. Objective: in this study, a 32 year old male patient with short stature, deformity of both lower limbs, repeated fever infection and fat leakage was examined by comprehensive physical examination and corresponding auxiliary examination. Patients with hematopoietic disorders were treated with symptomatic support therapy, and related literatures were consulted to improve the understanding of the disease and improve the level of diagnosis and treatment. Subjects and methods: (1) 32 years old male, admitted to hospital because of "pale face, fatigue, fever, cough for more than one month". (2) study method 1. A comprehensive physical examination showed that the patient was short in stature, stunted in development, inflexible in walking, and 2. The family history of the patient showed that one of his brothers died of hematopoietic failure 3 months ago, with symptoms of hypoplasia and lower extremity deformity. Routine examination of blood routine examination, liver and kidney function, blood biochemistry, coagulation series, lipase, amylase evaluation of pancreatic exocrine function, vitamin series, folic acid, whether there is nutritional anemia; Search for pathogens for targeted treatment of pulmonary infections. Chest and abdominal CT scans were performed to evaluate lung infection and pancreatic development. Bone marrow cytologic biopsy was performed to evaluate the hematopoiesis status of bone marrow; immunophenotype, gene and chromosome examination were performed to exclude the associated hematological diseases; and SBDS and other commonly known pathogenic genes were sequenced to search for molecular diagnostic basis. The diagnosis, differential diagnosis and pathogenesis of the disease were discussed, and the treatment methods were summarized to better understand the disease. Results: Shwachman-Diamond syndrome was diagnosed as 1. 1. Pulmonary infection (fungi, bacteria) 3. Type 1 diabetes. Conclusion: the possibility of Shwachman-Diamond syndrome should be considered in patients with congenital bone marrow hematopoiesis failure (or acute leukemia, myelodysplastic syndrome), congenital somatic dysplasia and pancreatic exocrine dysfunction. Clinical and molecular biological evidence is needed for diagnosis.
【学位授予单位】：山东大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R596

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