sodium-taurocholate cotransporting polypeptide deficiency
Conditions
Interventions
Sponsors
Eligibility
Inclusion criteria
Inclusion criteria: The age is less than 18 years old. Patients presented with hypercholanemia. Gene sequencing revealed homozygous or compound heterzygoous mutations of SLC10A1.
Exclusion criteria
Exclusion criteria: The age is older than 18 years old. Patients presented with deformity of biliary duct. Patients presented with infectious cholestasis. Patients presented with immnunological cholestasis.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| total bile acid;bilirubin;alanine aminotransferase;aspartate aminotransferase;albumin;vitamin D;blood ammonia;gene results of next generation sequencing; | — |
Countries
China
Contacts
West China Second University Hospital