Infant cholestasis patient with a novel missense mutation in the gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literature

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cholic acid 187 missense mutation in the AKR1D1 gene successfully treated by early adequate supplementation with chenodeoxy cholic acid : A case report and review of the literatureHui-Hui WangGastroenterology Department, Shenzhen Children’s
cholic acid 2371 Based on these mutations, the patient was confirmed to have primary 5β-reductase deficiency. Ursodeoxy cholic acid (UDCA) treatment did not have any effect on the patient. However, when we changed to chenodeoxycholic
cholic acid 2478 acid (UDCA) treatment did not have any effect on the patient. However, when we changed to chenodeoxy cholic acid (CDCA) treatment, his symptoms and laboratory tests gradually improved. It is therefore crucial to supplement
cholic acid 2973 (AKR1D1) gene. The patient was successfully treated by early adequate supplementation with chenodeoxy cholic acid (CDCA). This case suggests that a novel compound heterozygous R307C mutation and loss of heterozygosity
cholic acid 5587 fat-soluble vitamins[[14]]. Treatment with primary bile acids includes monotherapy or the combination of cholic acid (CA), ursodeoxycholic acid (UDCA) and chenodeoxycholic acid (CDCA). Early treatment of these bile acids,
cholic acid 5614 Treatment with primary bile acids includes monotherapy or the combination of cholic acid (CA), ursodeoxy cholic acid (UDCA) and chenodeoxycholic acid (CDCA). Early treatment of these bile acids, especially CA and CDCA,
cholic acid 5647 includes monotherapy or the combination of cholic acid (CA), ursodeoxycholic acid (UDCA) and chenodeoxy cholic acid (CDCA). Early treatment of these bile acids, especially CA and CDCA, is essential to reserve liver function
cholic acid 9812 c.853C > T (p. Q285X)Heterozygote8 moMCDCAAlive and well/[9]/: No data; CA: Cholic acid; CDCA: Chenodeoxy cholic acid ; INR: International normalized ratio; UDCA: Ursodeoxycholic acid; F: Female; M: Male.Figure 1Genomic
cholic acid 9877 data; CA: Cholic acid; CDCA: Chenodeoxycholic acid; INR: International normalized ratio; UDCA: Ursodeoxy cholic acid ; F: Female; M: Male.Figure 1Genomic DNA sequences in exon 8 of the AKR1D1 gene in the patient and his
cholic acid 12484 increased dose of CDCA appeared adequate.Figure 3Responses of liver function after treatment with ursodeoxy cholic acid and chenodeoxycholic acid. A: Transaminase 1; B: Bilirubin. UDCA: Ursodeoxycholic acid; CDCA: Chenodeoxycholic
cholic acid 12510 adequate.Figure 3Responses of liver function after treatment with ursodeoxycholic acid and chenodeoxy cholic acid . A: Transaminase 1; B: Bilirubin. UDCA: Ursodeoxycholic acid; CDCA: Chenodeoxycholic acid.DISCUSSIONWe
cholic acid 12571 with ursodeoxycholic acid and chenodeoxycholic acid. A: Transaminase 1; B: Bilirubin. UDCA: Ursodeoxy cholic acid ; CDCA: Chenodeoxycholic acid.DISCUSSIONWe summarized published CBS2 cases with a confirmed AKR1D1 mutation
cholic acid 12600 chenodeoxycholic acid. A: Transaminase 1; B: Bilirubin. UDCA: Ursodeoxycholic acid; CDCA: Chenodeoxy cholic acid .DISCUSSIONWe summarized published CBS2 cases with a confirmed AKR1D1 mutation reported in the NCBI database
cholic acid 19464 diagnosisHyperbilirubinemia, coagulopathy, and impaired liver function.TreatmentThe patient was initially given ursodeoxy cholic acid (UDCA) treatment. We changed UDCA to chenodeoxycholic acid (CDCA) (80 mg/d) after one week of ineffective
cholic acid 19523 function.TreatmentThe patient was initially given ursodeoxycholic acid (UDCA) treatment. We changed UDCA to chenodeoxy cholic acid (CDCA) (80 mg/d) after one week of ineffective UCDA treatment. After two months of oral CDCA treatment,
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