微绒毛包涵体病一家系临床特点和MYO5B基因突变分析
发布时间：2018-11-06 14:34
【摘要】：微绒毛包涵体病(MVID)是MYO5B或STX3基因突变导致的一种常染色体隐性遗传病,以难治性腹泻和营养吸收障碍为主要临床表现。本文探讨1例MVID患儿的临床特征及MYO5B基因突变特点。患儿为21 d女婴,因"解稀便20 d"收住院。体查发现患儿体重和身长落后,皮肤巩膜黄染;双肺呼吸音清,心音有力;腹部膨隆,腹壁静脉显露,肝脾肋下未触及。血生化结果发现总胆汁酸、胆红素、转氨酶、谷氨酰转肽酶等指标均升高,而血钠、氯、磷和镁水平均降低。血气分析提示代谢性酸中毒。初步诊断先天性腹泻,给予肠外营养及对症支持治疗。患儿腹泻顽固,代谢性酸中毒和电解质絮乱难以纠正,且转氨酶、谷氨酰转肽酶、总胆汁酸、胆红素等胆汁淤积指标持续高于正常。住院1月余自动出院,出院后失访。遗传学分析在患儿MYO5B基因检测到c.1966CT(p.R656C)和c.310+2Tdup两个突变,分别来源于其母亲和父亲;其中c.310+2Tdup为新的剪接位点突变,最终患儿确诊为MVID。
[Abstract]:Microvilli inclusion body disease (MVID) is an autosomal recessive disease caused by MYO5B or STX3 gene mutation. The main clinical manifestations of microvilli inclusion body disease are refractory diarrhea and nutritional absorption disorder. The clinical features and MYO5B gene mutation of one case with MVID were studied. The children were 21 d female infants and admitted to hospital because of "dilute defecation for 20 days". Body examination showed that the children were backward in body weight and length, yellow staining of scleral skin, clear respiratory tone of both lungs, strong heart sound, abdominal bulge, exposure of abdominal wall vein and untouched subcostal liver and spleen. The serum biochemical results showed that total bile acid, bilirubin, transaminase and glutamyl transpeptidase were all increased, while the levels of blood sodium, chlorine, phosphorus and magnesium were decreased. Blood gas analysis suggested metabolic acidosis. Initial diagnosis of congenital diarrhea, parenteral nutrition and symptomatic support treatment. Diarrhea, metabolic acidosis and electrolyte disturbance were difficult to correct, and the indexes of cholestasis such as transaminase, glutamyl transpeptidase, total bile acid and bilirubin remained higher than normal. In January, I left the hospital automatically, and lost my visit after I was discharged. Two mutations of c.1966CT (p.R656C) and c. 310 2Tdup were detected in the MYO5B gene of children by genetic analysis, which originated from the mother and father, respectively, in which c. 310 2Tdup was a new splicing site mutation, and the patient was finally diagnosed as MVID.
【作者单位】： 暨南大学附属第一医院儿科;广州市妇女儿童医疗中心新生儿科;广东医科大学附属医院儿童医学中心;
【基金】：国家自然科学基金(81570793)
【分类号】：R725.9
，
本文编号：2314562
[Abstract]:Microvilli inclusion body disease (MVID) is an autosomal recessive disease caused by MYO5B or STX3 gene mutation. The main clinical manifestations of microvilli inclusion body disease are refractory diarrhea and nutritional absorption disorder. The clinical features and MYO5B gene mutation of one case with MVID were studied. The children were 21 d female infants and admitted to hospital because of "dilute defecation for 20 days". Body examination showed that the children were backward in body weight and length, yellow staining of scleral skin, clear respiratory tone of both lungs, strong heart sound, abdominal bulge, exposure of abdominal wall vein and untouched subcostal liver and spleen. The serum biochemical results showed that total bile acid, bilirubin, transaminase and glutamyl transpeptidase were all increased, while the levels of blood sodium, chlorine, phosphorus and magnesium were decreased. Blood gas analysis suggested metabolic acidosis. Initial diagnosis of congenital diarrhea, parenteral nutrition and symptomatic support treatment. Diarrhea, metabolic acidosis and electrolyte disturbance were difficult to correct, and the indexes of cholestasis such as transaminase, glutamyl transpeptidase, total bile acid and bilirubin remained higher than normal. In January, I left the hospital automatically, and lost my visit after I was discharged. Two mutations of c.1966CT (p.R656C) and c. 310 2Tdup were detected in the MYO5B gene of children by genetic analysis, which originated from the mother and father, respectively, in which c. 310 2Tdup was a new splicing site mutation, and the patient was finally diagnosed as MVID.
【作者单位】： 暨南大学附属第一医院儿科;广州市妇女儿童医疗中心新生儿科;广东医科大学附属医院儿童医学中心;
【基金】：国家自然科学基金(81570793)
【分类号】：R725.9
，
本文编号：2314562
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