【摘要】：研究背景:Shwachman-Diamond 綜合征(Shwachman-Diamond syndrome,SDS)是一種罕見的常染色體隱性遺傳病,其特征是胰腺外分泌功能不全、先天性軀體畸形及骨髓造血衰竭,進(jìn)展為骨髓異常增生綜合征(myelodysplastic syndrome,MDS)/白血病,尤其是急性髓系白血病(acute myeloid leukemia,AML)的風(fēng)險(xiǎn)高[1]。SDS相關(guān)的突變基因?yàn)镾BDS,位于染色體7q11,90%以上患者存在本基因突變[2]。研究目的:本研究通過對(duì)一例臨床表現(xiàn)為身材矮小,雙下肢畸形,反復(fù)發(fā)熱感染和脂肪泄的32歲青年男性患者進(jìn)行全面的體格檢查、及相應(yīng)的輔助檢查,明確診斷;針對(duì)患者的造血系統(tǒng)紊亂進(jìn)行對(duì)癥支持治療;查閱相關(guān)文獻(xiàn)進(jìn)行討論,以完善對(duì)該病的認(rèn)識(shí),提高診治水平。研究對(duì)象和方法:(1)研究對(duì)象32歲男性,因"面色蒼白、乏力、發(fā)熱、咳嗽1月余"入院。(2)研究方法1.對(duì)患者進(jìn)行全面的體格檢查,發(fā)現(xiàn)其身材矮小,發(fā)育不良,行走欠靈活,雙下肢股骨側(cè)彎畸形;2.對(duì)患者家族史進(jìn)行詢問,發(fā)現(xiàn)其有一哥哥因造血功能衰竭于3個(gè)月前去世,同樣有發(fā)育不良和雙下肢畸形等癥狀;3.抽取患者靜脈血,行血常規(guī)、肝腎功、血生化、凝血系列等常規(guī)檢查;查脂肪酶、淀粉酶評(píng)估其胰腺外分泌功能;查維生素系列、葉酸,評(píng)估其是否存在營養(yǎng)性貧血;查找病原體,以針對(duì)性治療肺部感染;4.對(duì)患者進(jìn)行胸腹CT平掃,評(píng)估其肺部感染和胰腺發(fā)育情況;5.行骨髓細(xì)胞學(xué)+活檢檢查,評(píng)估其骨髓造血情況;行免疫分型、基因、染色體檢查,排除相關(guān)血液系統(tǒng)疾病;對(duì)SBDS等已知常見致病基因進(jìn)行測序,尋找分子學(xué)診斷依據(jù);6.查閱相關(guān)文獻(xiàn),討論該病的診斷、鑒別診斷、致病機(jī)制,總結(jié)該病的治療方法,更好地認(rèn)識(shí)這種疾病。結(jié)果:根據(jù)患者的臨床表現(xiàn)和輔助檢查結(jié)果,診斷為:1.Shwachman-Diamond綜合征2.肺部感染(真菌、細(xì)菌)3.Ⅰ型糖尿病。結(jié)論:對(duì)先天性的骨髓造血功能衰竭(或者表現(xiàn)為急性白血病、骨髓異常增生綜合征),同時(shí)和并先天軀體發(fā)育不良和胰腺外分泌功能障礙的患者應(yīng)考慮Shwachman-Diamond綜合征的可能,在診斷上需要尋求臨床和分子生物學(xué)的證據(jù)才能加以確診。
[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(xué)位授予單位】：山東大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2017
【分類號(hào)】：R596

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