Shwachman-Diamond綜合征病例報告一例并相關文獻復習
[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.
【學位授予單位】：山東大學
【學位級別】：碩士
【學位授予年份】：2017
【分類號】：R596
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