Two Cases of Pathological Jaundice in Neonates with Crigler-Najjar Syndrome

doi:10.12280/gjszjk.20250438

Abstract

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

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.

Figures/Tables 6

References 24

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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