【摘要】：Alagille綜合征(ALGS)是一種常染色體顯性遺傳病,可累及肝臟、心臟、骨骼、眼睛、腎臟、顏面等多個系統(tǒng)。本文報道1例ALGS患兒的臨床和遺傳學特征。患兒為3個月10d男嬰,因發(fā)現(xiàn)皮膚、鞏膜黃染3個月就診。體格檢查示:寬額頭,小下頜;胸骨左緣第2、3肋間可聞及3~4/6級收縮期雜音;腹部膨隆,肝右肋下3cm可觸及,質(zhì)地中等。生化結(jié)果示肝功能明顯異常,膽紅素升高,且以結(jié)合膽紅素升高為主,伴總膽汁酸和γ-谷氨酰轉(zhuǎn)肽酶顯著升高。心臟彩超示房間隔缺損、肺動脈狹窄。二代測序發(fā)現(xiàn)該患兒JAG1基因整體雜合缺失,而染色體微陣列分析在患兒20號染色體p12.3p12.2處檢出約3.0Mb缺失,該范圍包含ALGS致病基因JAG1。該患兒具備特殊面容、心臟畸形和膽汁淤積等臨床表現(xiàn),結(jié)合遺傳學分析結(jié)果,診斷ALGS明確。確診后給予對癥支持治療,現(xiàn)已隨訪至生后11個月,膽紅素較治療前明顯下降,但總膽汁酸和γ-谷氨酰轉(zhuǎn)肽酶等指標仍明顯升高,其遠期預后仍有待隨訪觀察。本研究擴展了JAG1基因突變譜,同時為患兒診斷、治療及家系遺傳咨詢和產(chǎn)前診斷提供了實驗室依據(jù)。
[Abstract]:Alagille syndrome (ALGS) is an autosomal dominant disease that involves multiple systems such as liver, heart, bone, eyes, kidney, face and so on. This paper reports the clinical and genetic characteristics of a case with ALGS. The child was a 10-day boy for 3 months. The skin was found and the sclera yellow stain was seen for 3 months. Physical examination showed: wide forehead, small mandible, 3 intercostal murmur of left sternum and 3 ~ 4 / 6 degree constrictive murmur; abdominal bulge, 3cm under right costal of liver palpable, medium texture. The biochemical results showed that liver function was obviously abnormal, bilirubin was increased, and conjugated bilirubin was mainly increased, accompanied by a significant increase in total bile acid and 緯 -glutamyl transpeptidase. Echocardiography showed atrial septal defect and pulmonary artery stenosis. The second generation sequencing found that the whole heterozygosity deletion of JAG1 gene was found in this child, while the deletion of 3.0Mb was detected by chromosome microarray analysis at chromosome 20 p12.3p12.2, which included the ALGS pathogenicity gene JAG1.. The patient had special facial features, cardiac malformation and cholestasis. Combined with genetic analysis, the diagnosis of ALGS was clear. After receiving symptomatic support therapy after diagnosis, bilirubin was significantly lower than that before treatment until 11 months after birth, but total bile acid and 緯 -glutamyl transpeptidase were still significantly increased, and the long-term prognosis was still to be observed. This study extends the JAG1 gene mutation spectrum and provides laboratory evidence for the diagnosis, treatment, family genetic counseling and prenatal diagnosis of children.
【作者單位】： 暨南大學附屬第一醫(yī)院兒科;
【基金】：國家自然科學基金(81570793)
【分類號】：R725.9

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