發(fā)布時(shí)間：2018-07-20 17:11

【摘要】：先天性膽汁酸合成障礙2型(CBAS2)是編碼Δ4-3-氧固醇5β-還原酶的AKR1D1基因突變導(dǎo)致的常染色體隱性遺傳病,以膽汁淤積性黃疸為主要臨床表現(xiàn),伴脂肪和脂溶性維生素吸收障礙。本文報(bào)道了1例CBAS2患兒的臨床特點(diǎn)及AKR1D1基因突變分析結(jié)果�；純簽�8個(gè)月男嬰,因發(fā)現(xiàn)全身皮膚、鞏膜黃染7月余就診。體查發(fā)現(xiàn)患兒發(fā)育、營(yíng)養(yǎng)差;皮膚、鞏膜輕度黃染;肝右肋下8 cm,質(zhì)地中等,脾臟不大。血生化結(jié)果發(fā)現(xiàn)轉(zhuǎn)氨酶和總膽紅素升高,以結(jié)合膽紅素升高為主,但γ-谷氨酰轉(zhuǎn)肽酶和總膽汁酸水平基本正常。肝臟組織學(xué)檢查見(jiàn)膽管排列紊亂,多核巨細(xì)胞易見(jiàn),肝細(xì)胞內(nèi)明顯淤膽,伴間質(zhì)纖維組織增生及淋巴細(xì)胞浸潤(rùn)。代謝性肝病組套二代測(cè)序及Sanger測(cè)序驗(yàn)證結(jié)果證實(shí)患兒AKR1D1基因型為c.579+2del T/c.853CT(p.Q285X),兩個(gè)突變均為新突變,且分別來(lái)源于其母親和父親�；純鹤罱K確診為CBAS2,給予鵝去氧膽酸治療后,肝功能明顯好轉(zhuǎn),肝腫大逐漸改善。3個(gè)月后隨訪,肝臟右肋下2.5 cm可及,質(zhì)軟,肝功能各項(xiàng)指標(biāo)已恢復(fù)正常。
[Abstract]:Congenital bile acid synthesis disorder type 2 (CBAS2) is an autosomal recessive hereditary disease caused by mutation of AKR1D1 gene encoding 螖 4-3-oxysteroid 5 尾 -reductase. The main clinical manifestation is cholestatic jaundice, accompanied by fat and fat soluble vitamin absorption disorder. This paper reports the clinical characteristics of a child with CBAS2 and the results of AKR1D1 gene mutation analysis. The child was a 8-month-old boy who was treated for 7 months with scleral yellow staining due to the discovery of his whole body skin. Body examination showed that the children developed and had poor nutrition; the skin was slightly yellow stained with sclera; the liver was 8 cm below the right costal texture and the spleen was not large. The results of blood biochemistry showed that transaminase and total bilirubin increased, but the levels of 緯 -glutamyl transpeptidase and total bile acid were normal. Liver histology showed that the bile duct was disarranged, the multinucleated giant cells were easy to be seen, the hepatocytes were obviously cholestatic, accompanied by interstitial fibrous tissue proliferation and lymphocytic infiltration. The results of second-generation sequencing and Sanger sequencing in metabolic liver disease group confirmed that the genotype of AKR1D1 was c. 579 2del T / c. 853 CT (p. Q285X). Both mutations were new and originated from their mothers and fathers, respectively. The children were diagnosed as CBAS2, the liver function was obviously improved and the hepatomegaly was gradually improved after the treatment of chenodeoxycholic acid. After 3 months follow-up, the liver was 2.5 cm below the right costal, soft in quality and normal in various indexes of liver function.
【作者單位】： 暨南大學(xué)附屬第一醫(yī)院兒科;
【基金】：國(guó)家自然科學(xué)基金(81570793)
【分類號(hào)】：R725.9

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本文編號(hào)：2134191