Crigler-Najjar综合征新生儿病理性黄疸二例

doi:10.12280/gjszjk.20250438

摘要/Abstract

摘要：

报道2例Crigler-Najjar综合征（Crigler-Najjar syndrome，CNS）患儿的临床资料。2例患儿均表现为新生儿期反复病理性黄疸，未结合胆红素升高，蓝光治疗有效，但停止治疗后病情即反复。基因检测分别发现尿苷二磷酸葡萄糖醛酸基转移酶1A1（uridine diphosphate glucuronosyl transferase 1A1，UGT1A1）基因c.1091C>T(p.Pro364Leu)纯合突变和c.211G>A(p.Gly71Arg)纯合突变合并c.322C>T(p.Arg108Cys)杂合突变，结合家系分析、综合临床表现，确诊为CNS-Ⅱ型。CNS是一种由UGT1A1基因突变导致的罕见遗传病，基因检测是确诊的关键，对于新生儿期反复发作的病理性黄疸、未结合胆红素血升高，需警惕CNS。尽早完善基因检测，早期识别CNS及个体化治疗可显著改善预后，减少新生儿致残、致死率。

关键词: Crigler-Najjar综合征, 黄疸，新生儿, 高胆红素血症，新生儿, UGT1A1基因

Abstract:

We report two cases of Crigler-Najjar syndrome (CNS). Both children presented with recurrent neonatal pathological jaundice with the increased unconjugated bilirubin. During the treatment period, blue light photo therapy was effective. However, the condition of pathological jaundice relapsed after the treatment was stopped. Genetic testing revealed respectively a homozygous mutation of c.1091C>T (p.Pro364Leu) in the uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1) gene in one child, and a homozygous mutation of c.211G>A (p.Gly71Arg) combined with a heterozygous mutation of c.322C>T (p.Arg108Cys) in another one. Based on the family history, comprehensive clinical manifestations, and genetic testing, both children were diagnosed with CNS Ⅱ. CNS is a rare genetic disorder caused by mutations in the UGT1A1 gene. Genetic testing is the key to diagnosis. For neonatal recurrent pathological jaundice with the increased unconjugated bilirubin, this genetic disease should be suspected, and genetic testing should be completed as soon as possible. Early identification and individualized treatment can significantly improve the prognosis and reduce the rate of neonatal disability and mortality.

Key words: Crigler-Najjar syndrome, Jaundice, neonatal, Hyperbilirubinemia, neonatal, UGT1A1 gene

兰雪, 常桐嘉, 翟惟鼎, 孙妍. Crigler-Najjar综合征新生儿病理性黄疸二例[J]. 国际生殖健康/计划生育杂志, 2026, 45(2): 120-124.

LAN Xue, CHANG Tong-jia, ZHAI Wei-ding, SUN Yan. Two Cases of Pathological Jaundice in Neonates with Crigler-Najjar Syndrome[J]. Journal of International Reproductive Health/Family Planning, 2026, 45(2): 120-124.

图/表 6

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年龄	总胆红素（μmol/L）	间接胆红素（μmol/L）	直接胆红素（μmol/L）	丙氨转氨酶（U/L）	谷草转氨酶（U/L）
9 d	526.00	28.81	497.19	44.00	68.20
1个月	280.34	14.22	266.12	34.20	97.80
1个月6 d	66.08	16.34	49.74	15.70	39.40
2个月	82.55	12.40	70.15	24.00	23.80
3个月	49.80	7.60	42.20	22.70	17.30

年龄	总胆红素（μmol/L）	间接胆红素（μmol/L）	直接胆红素（μmol/L）	丙氨转氨酶（U/L）	谷草转氨酶（U/L）
9 d	526.00	28.81	497.19	44.00	68.20
1个月	280.34	14.22	266.12	34.20	97.80
1个月6 d	66.08	16.34	49.74	15.70	39.40
2个月	82.55	12.40	70.15	24.00	23.80
3个月	49.80	7.60	42.20	22.70	17.30

年龄	总胆红素（μmol/L）	间接胆红素（μmol/L）	直接胆红素（μmol/L）	谷丙转氨酶（U/L）	谷草转氨酶（U/L）
11 d	438.60	18.10	420.50	43.10	38.60
1个月11 d	177.61	9.89	167.72	14.30	32.70
3个月	13.76	2.22	11.54	32.70	37.70

年龄	总胆红素（μmol/L）	间接胆红素（μmol/L）	直接胆红素（μmol/L）	谷丙转氨酶（U/L）	谷草转氨酶（U/L）
11 d	438.60	18.10	420.50	43.10	38.60
1个月11 d	177.61	9.89	167.72	14.30	32.70
3个月	13.76	2.22	11.54	32.70	37.70

系统分类	临床表现	病例数
神经系统	胆红素脑病	6
	肌张力异常	4
	抽搐	4
	听力障碍	1
	发育迟缓	1
消化系统	肝大	3
	脾大	1
全身表现	极重度黄疸	9
治疗情况	蓝光治疗无效	9
随访结局	死亡	4
	肝移植存活	2
	失访	3