A carrier of pathogenic variant of SLC10A1 gene presenting transient infantile hypercholanemia and cholestasis
LI Xiao-wei, DENG mei, QIU Jian-wu, et al
LI Xiao-wei, DENG Mei, QIU Jian-wu, Raza-Muhammad Atif, SONG Yuan-zong (Department of Pediatrics, the First Affiliated Hospital of Jinan University, Guangdong, Guangzhou 510630, China)
Abstract: Objective This study aimed to explore the clinical and molecular genetic features of a carrier of pathogenic variant of SLC10A1 gene, so as to provide evidences for clinical diagnosis and management. Methods In August 2017, a sick infant with transient hypercholanemia and cholestasis was admitted into the Department of Pediatrics, the First Affiliated Hospital, Jinan University. The clinical features, biochemistry results and genetic test findings were analyzed retrospectively. Results The patient was a premature baby born at 35+2 weeks of gestational age. The serum levels of total bile acids (TBA), total, direct and indirect bilirubin, and γ-glutamyl transpeptidase were all above normal at age 1 month when he was hospitalized due to pneumonia. At the age of 1.3 months, the TBA level kept to be increased while the remaining indices got alleviated gradually. On a follow-up at 1.9 months, his TBA was still at high level, and thus sodium taurocholate cotransporting polypeptide (NTCP) deficiency was highly suspected. On SLC10A1 genetic analysis at age 3 months, both the infant and his father proved to be carriers of the pathogenic variant c.800C>T(p.Ser267Phe), while the mother harbored a wild genotype. His serum TBA level finally recoveredto normal range at the age of 4 months. Conclusion On the basis of premature birth and hyperbilirubinemia, some carriers of pathogenic SLC10A1 variant might present hypercholanemia and cholestatic changes in early infancy, similar to NTCP deficiency.
李晓薇 邓梅 邱建武 等. SLC10A1基因致病性变异携带者表现为暂时性婴儿高胆汁酸血症和胆汁淤积症1例#br#[J]. 发育医学电子杂志, 2018, 6(1): 54-58.
LI Xiao-wei, DENG mei, QIU Jian-wu, et al. A carrier of pathogenic variant of SLC10A1 gene presenting transient infantile hypercholanemia and cholestasis. Journal of Developmental Medicine(Electronic Version), 2018, 6(1): 54-58.
2018, Vol. 6 
