Clinical and genetic analysis of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency

• Published in: Zhongguo dang dai er ke za zhi Vol. 20; no. 4; pp. 279 - 284
• Main Authors: Li, Hua, Qiu, Jian-Wu, Lin, Gui-Zhi, Deng, Mei, Lin, Wei-Xia, Cheng, Ying, Song, Yuan-Zong
• Format: Journal Article
• Language: Chinese
• Published: China 01.04.2018
• Subjects: Humans; Infant; Male; Organic Anion Transporters, Sodium-Dependent - deficiency; Organic Anion Transporters, Sodium-Dependent - genetics; Symporters - deficiency; Symporters - genetics
• ISSN: 1008-8830
• DOI: 10.7499/j.issn.1008-8830.2018.04.005

Sodium taurocholate cotransporting polypeptide (NTCP) deficiency is an inborn error of bile acid metabolism caused by mutations of SLC10A1 gene. This paper reports the clinical and genetic features of a patient with this disease. A 3.3-month-old male infant was referred to the hospital with the complaint of jaundiced skin and sclera over 3 months. Physical examination revealed moderate jaundice of the skin and sclera. The liver was palpable 3.5 cm below the right subcostal margin with a medium texture. Serum biochemistry analysis revealed markedly elevated bilirubin (predominantly direct bilirubin) and total bile acids (TBA), as well as decreased 25-OH-VitD level. On pathological analysis of the biopsied liver tissue, hepatocyte ballooning and cholestatic multinucleate giant cells were noted. The lobular architecture was distorted. Infiltration of inflammatory cells, predominantly lymphocytes, was seen in the portal tracts. In response to the anti-inflammatory and liver protective drugs as well as fat-soluble