NTCP deficiency combined with Alagille Syndrome: a case report and literature review

Abstract

Abstract: Objective To investigate the clinical features and genetic variation characteristics in children with a sodium taurocholate co-transporting polypeptide (NTCP) deficiency combined with Alagille syndrome (ALGS). Methods The clinical data and genetic test results of a child with NTCP deficiency combined with ALGS were retrospectively analyzed, along with a review of relevant literature. Results The patient, a 4-month-old boy, presented with jaundice of the skin and sclera one week after birth. He displayed characteristic facial features, including a prominent forehead, deep-set eyes, and a pointed chin. Laboratory findings revealed significant elevations in serum ALT, AST, TBA, and TBil, with no marked increase in γ-GT. Genomic sequencing identified a heterozygous mutation at the JAG1 gene locus( c.1148_1149del), resulting in a frameshift mutation altering the amino acid at p.C383fs (cysteine in the 383rd position and downstream amino acid), and a homozygous mutation at the SLC10A1 locus( c800C>T), changing the amino acid at p.s267F (serine in the 267th position was replaced by phenylalanine). Based on these findings, the patient was diagnosed with NTCP deficiency combined with ALGS. Conclusion NTCP deficiency combined with ALGS may manifest as low-γ-GT cholestatic hepatitis, and genetic testing is valuable for diagnostic confirmation.

Key words: Alagille syndrome, Cholestasis, Gene variant, Sodium taurocholate cotransporting polypeptid deficiency

SHE Lan-hui, LI Xu-fang, FANG Chun-xiao, LIU Shi-ying, XU Yi. NTCP deficiency combined with Alagille Syndrome: a case report and literature review[J]. Chinese Hepatolgy, 2024, 29(11): 1422-1426.

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