微絨毛包涵體病一家系臨床特點(diǎn)和MYO5B基因突變分析
發(fā)布時間：2018-11-06 14:34
【摘要】：微絨毛包涵體病(MVID)是MYO5B或STX3基因突變導(dǎo)致的一種常染色體隱性遺傳病,以難治性腹瀉和營養(yǎng)吸收障礙為主要臨床表現(xiàn)。本文探討1例MVID患兒的臨床特征及MYO5B基因突變特點(diǎn)�；純簽�21 d女嬰,因"解稀便20 d"收住院。體查發(fā)現(xiàn)患兒體重和身長落后,皮膚鞏膜黃染;雙肺呼吸音清,心音有力;腹部膨隆,腹壁靜脈顯露,肝脾肋下未觸及。血生化結(jié)果發(fā)現(xiàn)總膽汁酸、膽紅素、轉(zhuǎn)氨酶、谷氨酰轉(zhuǎn)肽酶等指標(biāo)均升高,而血鈉、氯、磷和鎂水平均降低。血?dú)夥治鎏崾敬x性酸中毒。初步診斷先天性腹瀉,給予腸外營養(yǎng)及對癥支持治療。患兒腹瀉頑固,代謝性酸中毒和電解質(zhì)絮亂難以糾正,且轉(zhuǎn)氨酶、谷氨酰轉(zhuǎn)肽酶、總膽汁酸、膽紅素等膽汁淤積指標(biāo)持續(xù)高于正常。住院1月余自動出院,出院后失訪。遺傳學(xué)分析在患兒MYO5B基因檢測到c.1966CT(p.R656C)和c.310+2Tdup兩個突變,分別來源于其母親和父親;其中c.310+2Tdup為新的剪接位點(diǎn)突變,最終患兒確診為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.
【作者單位】： 暨南大學(xué)附屬第一醫(yī)院兒科;廣州市婦女兒童醫(yī)療中心新生兒科;廣東醫(yī)科大學(xué)附屬醫(yī)院兒童醫(yī)學(xué)中心;
【基金】：國家自然科學(xué)基金(81570793)
【分類號】：R725.9
，
本文編號：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.
【作者單位】： 暨南大學(xué)附屬第一醫(yī)院兒科;廣州市婦女兒童醫(yī)療中心新生兒科;廣東醫(yī)科大學(xué)附屬醫(yī)院兒童醫(yī)學(xué)中心;
【基金】：國家自然科學(xué)基金(81570793)
【分類號】：R725.9
，
本文編號：2314562
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