neonatal intrahepatic cholestasis caused by citrin deficiency
Conditions
Interventions
Sponsors
Eligibility
Inclusion criteria
Inclusion criteria: Inclusion criteria for Citrin deficiency: 1) Meeting the diagnostic criteria for cholecasis: a. If total bilirubin >75umol/L, direct bilirubin/total bilirubin >20%; B. If total bilirubin 17umol/L, conforming to either A or B is diagnosed as cholestasis. 2) Normal birth weight for full-term infants less than 3 months old. 3) Genetic diagnosis of SLC25A13 variation. Inclusion criteria for biliary atresia: 1) Meet the diagnostic criteria for cholestasis. 2) Normal birth weight for full-term infants less than 3 months old. (3) Biliary atresia was confirmed by intraoperative laparoscopic cholangiography and pathological. Inclusion criteria of healthy group: normal full-term infants who came to hospital for physical examination less than 3 months ago.
Exclusion criteria
Exclusion criteria: Citrin deficiency exclusion criteria: 1) congenital abnormalities, birth defects. 2) Older than 3 months, premature birth, abnormal birth weight. 3) Complicated with other serious diseases. 4) Probiotics, antibiotics and proton pump inhibitors were used 2 weeks before feces collection. Exclusion criteria for biliary atresia: 1) congenital abnormalities and birth defects. 2) Older than 3 months, premature birth, abnormal birth weight. 3) Complicated with other serious diseases. 4) Probiotics, antibiotics and proton pump inhibitors were used 2 weeks before feces collection. Exclusion criteria for healthy infants group: 1) congenital abnormalities and birth defects. 2) Older than 3 months, premature birth, abnormal birth weight. 3) Complicated with other serious diseases. 4) Probiotics, antibiotics and proton pump inhibitors were used 2 weeks before feces collection.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| cholestasis; | — |
Secondary
| Measure | Time frame |
|---|---|
| cholestasis; | — |
Countries
China