Clinical and genetic analysis of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency.
- Author:
Hua LI
1
;
Jian-Wu QIU
;
Gui-Zhi LIN
;
Mei DENG
;
Wei-Xia LIN
;
Ying CHENG
;
Yuan-Zong SONG
Author Information
1. Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou 510630, China. songyuanzong@vip.tom.com.
- Publication Type:Case Reports
- MeSH:
Humans;
Infant;
Male;
Organic Anion Transporters, Sodium-Dependent;
deficiency;
genetics;
Symporters;
deficiency;
genetics
- From:
Chinese Journal of Contemporary Pediatrics
2018;20(4):279-284
- CountryChina
- Language:Chinese
-
Abstract:
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 vitamins over 2 months, the bilirubin and transaminases levels were improved markedly while the TBA kept elevated. Because of persisting hypercholanemia on the follow-up, SLC10A1 gene analysis was performed at his age of 17.2 months. The child proved to be a homozygote of the reportedly pathogenic variant c.800C>T (p. Ser267Phe), while the parents were both carriers. NTCP deficiency was thus diagnosed. The infant was followed up until 34.3 months old. He developed well in terms of the anthropometric indices and neurobehavioral milestones. The jaundice disappeared completely. The liver size, texture and function indices all recovered. However, the hypercholanemia persisted, and the long-term outcome needs to be observed.
