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| Clinical analysis of two pediatric patients with sodium taurocholate cotransporting polypeptide deficiency |
| SUN Wenjun YU fei▲ |
| Department of Endocrine Genetic Metabolism in Children, Maternal and Child Hospital of Hubei Province, Tongji Medical College Huazhong University of Science and Technology, Hubei Province, Wuhan 430000, China |
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Abstract Sodium taurocholate cotransporting polypeptide (NTCP) deficiency is a newlydiscovered hereditary bile acid metabolic disorder in recent years. The aim of this research is to improve the understanding of NTCP deficiency． Two cases who presented with failure to thriveand jaundice in Department of Endocrine Genetic Metabolism in Children，Maternal and Child Hospital of Hubei Province, Tongji Medical College Huazhong University of Science and Technology were selected. Although the clinical manifestations were different, refractory hyperbile acidemia was found in all patients, and accompanied by a decrease in 25-hydroxy vitamin D. Genetic analysis revealed SLC10A1 mutation, which was clinically diagnosed as NTCP deficiency. After positive symptomatic treatment, the clinical symptoms were relieved and the prognosis was good. This study suggests that NTCP deficiency should be considered in neonates and children with significant and persistent hyperbile acidemia. Pediatric patients with NTCP deficiency may suffer from stunted growth and development in the long term and growth hormone may improve the lifetime height of patients with NTCP deficiency.
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