摘要 患儿，女，8岁，新生儿期即出现黄疸和肝功能异常，伴有先天性青光眼（生后第5天确诊）、特殊面容（前额宽阔、眼距宽、眼窝深陷）和血压高。肝功能异常以胆汁淤积为主，心脏大血管CTA发现腹主动脉、双肾动脉起始部狭窄。全外显子基因测序发现JAG1基因外显子12区域存在1个杂合移码突变：c.1485delC（缺失胞嘧啶）。该患儿确诊为Alagille综合征（ALGS）。给予降酶、利胆及多联降压药物治疗，丙氨酸氨基转移酶、门冬氨酸氨基转移酶及总胆汁酸明显下降，但血压波动在102~140/53~89 mm Hg，肾动脉球囊扩张成形术后患儿口服降压药血压波动在110~120/60~80 mm Hg。儿童难治性高血压伴多系统受累尤其是以胆汁淤积为主的肝功能异常时应注意鉴别罕见的ALGS，积极寻找遗传学病因，以及时诊治。
Abstract：A girl, aged 8 years, developed jaundice and liver dysfunction in the neonatal period, with congenital glaucoma diagnosed on day 5 after birth, hypertension and unusual facies (broad forehead, hypertelorism and deep-set eyes). Cholestasis was the main type of liver dysfunction. Cardiac macrovascular CTA showed stenosis at the abdominal aorta and the beginning of the bilateral renal arteries. Whole exon sequencing revealed a heterozygous frameshift mutation, c.1485delC (absence of cytosine), in exon 12 of the JAG1gene. The girl was diagnosed with Alagille syndrome and was given transaminase-lowering, cholagogic and antihypertensive treatment with multiple drugs. There were signifcant reductions in serum levels of alanine aminotransferase, aspartate aminotransferase and total bile acid, but blood pressure fluctuated between 102-140 mm Hg/53-89 mm Hg. After renal artery angiography and balloon dilatation angioplasty, the girl was given oral administration of antihypertensive drugs, and blood pressure was controlled at a level of 110-120 mm Hg/60-80 mm Hg. The rare disease Alagille syndrome should be considered when a child has refractory hypertension with the involvement of multiple systems, especially liver dysfunction with cholestasis as the main manifestation. Genetic causes should be analyzed for a early diagnosis.
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