[Clinical Features and ABCC2 Genotypic Analysis of an Infant with Dubin-Johnson Syndrome]

Overview

Journal Zhongguo Dang Dai Er Ke Za Zhi

Specialty Pediatrics

Date 2019 Jan 25

PMID 30675866

Citations 4

Authors

Lu-Lu Meng

Jian-Wu Qiu

Wei-Xia Lin

Yuan-Zong Song

Affiliations

Soon will be listed here.

Abstract

Dubin-Johnson syndrome (DJS) is an autosomal recessive disorder resulting from biallelic mutations of ABCC2 gene, with long-term or intermittent conjugated hyperbilirubinemia being the main clinical manifestation. This paper aims to report the clinical features and ABCC2 genotypes of an infant with DJS. A 9.5-month-old male infant was referred to the hospital due to abnormal liver function discovered over 9 months. The major clinical presentation was prolonged jaundice since neonatal period. A series of biochemistry analysis revealed markedly elevated total bilirubin, conjugated bilirubin and total bile acids. The patient had been managed in different hospitals, but the therapeutic effects were unsatisfactory due to undetermined etiology. Physical examination revealed jaundiced skin and sclera, and a palpable liver 3 cm below the right subcostal margin with medium texture. The spleen was not enlarged. Genetic analysis revealed a splice-site variant c.3988-2A>T and a nonsense variant c.3825C>G (p.Y1275X) in the ABCC2 gene of the infant, which were inherited from his mother and father respectively. The former had not been previously reported. Then ursodeoxycholic acid and phenobarbital were given orally. Half a month later, as a result, his jaundice disappeared and the biochemistry indices improved. However, the long-term outcome needs to be observed. Literature review revealed that neonates/infants with DJS presented with cholestatic jaundice soon after birth as the major clinical feature, and the ABCC2 variants exhibited marked heterogeneity.

Citing Articles

Dubin-Johnson Syndrome: A Case Report.

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Progress and challenges of multidrug resistance proteins in diseases.

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Literature review and report of three cases of Dubin-Johnson syndrome related to ABCC2 gene mutations in children.

You S, Sun Y, Zhang J, He Q, Wu X, Hu Y Am J Transl Res. 2021; 13(5):4477-4488.

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Clinical characteristics and genotype in Dubin-Johnson syndrome: A case report and review of the literature.

Wu H, Zhao X, Zhu J World J Clin Cases. 2021; 9(4):878-885.

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