本文選題：關(guān)節(jié)攣縮、腎功能不全和膽汁淤積綜合征 + VPSB基因��； 參考：《中國當代兒科雜志》2017年10期

【摘要】：關(guān)節(jié)攣縮、腎功能不全和膽汁淤積綜合征(ARC綜合征)是VPS33B或VIPAS39基因突變導(dǎo)致的一種常染色體隱性遺傳病。本文探討1例ARC綜合征患兒的臨床特征及VPS33B基因突變特點�；純�,女,47 d,皮膚鞏膜黃染45 d、肝功能異常39 d。曾在多家醫(yī)院診治,診斷不明,療效欠佳。體查發(fā)現(xiàn)皮膚鞏膜黃染,全身皮膚干燥,四肢及軀干部片狀脫屑,心肺未見異常,肝右肋下2.0 cm可觸及,髖關(guān)節(jié)和膝關(guān)節(jié)屈曲、伸展受限,四肢肌張力低。血清轉(zhuǎn)氨酶、膽汁酸、膽紅素(以結(jié)合膽紅素為主)等均升高,γ-谷氨酰轉(zhuǎn)肽酶大致正常;尿常規(guī)發(fā)現(xiàn)尿糖及尿紅細胞、白細胞均升高。遺傳學分析證實患兒為VPS33B基因c.1594CT(p.R532X)突變的純合子,確診為ARC綜合征。予以對癥支持治療,病情無好轉(zhuǎn),3個月29天時死亡。
[Abstract]:Joint contracture, renal insufficiency and cholestasis syndrome are autosomal recessive diseases caused by mutation of VPS33B or VIPAS39 gene. To investigate the clinical features and VPS33B gene mutation in one child with ARC syndrome. Children, female, 47 days, skin sclera yellow staining 45 days, liver function abnormality 39 days. Has been treated in many hospitals, the diagnosis is unknown, the curative effect is poor. Body examination showed that the skin was yellow stained with sclera, dry skin, flaky detritus of limbs and trunks, no abnormal heart and lung, 2.0 cm palpable under the right hepatic rib, flexion of hip and knee joint, limited extension and low muscular tension of extremities. The levels of serum aminotransferase, bile acid, bilirubin (mainly conjugated bilirubin) were increased and 緯 -glutamyl transpeptidase was normal. Genetic analysis confirmed the homozygote of VPS33B gene c. 1594CTA p. R532X, which was diagnosed as ARC syndrome. Symptomatic support treatment, no improvement, 3 months 29 days of death.
【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(81270957;81570793)
【分類號】：R725.9
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本文編號：1891883