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• W2892296559 endingPage "4092" @default.
• W2892296559 startingPage "4086" @default.
• W2892296559 abstract "Steroid 5β-reductase [aldo-keto reductase family 1 member D1 (AKR1D1)] is essential for bile acid biosynthesis. Bile acid deficiency caused by genetic defects in AKR1D1 leads to life-threatening neonatal hepatitis and cholestasis. There is still limited experience regarding the treatment of this disease. We describe an infant who presented with hyperbilirubinemia and coagulopathy but normal bile acid and γ-glutamyltransferase. Gene analysis was performed using genomic DNA from peripheral lymphocytes from the patient, his parents, and his elder brother. The patient was compound heterozygous for c.919C>T in exon 8 and exhibited a loss of heterozygosity of the AKR1D1 gene, which led to an amino acid substitution of arginine by cysteine at amino acid position 307 (p.R307C). Based on these mutations, the patient was confirmed to have primary 5β-reductase deficiency. Ursodeoxycholic acid (UDCA) treatment did not have any effect on the patient. However, when we changed to chenodeoxycholic acid (CDCA) treatment, his symptoms and laboratory tests gradually improved. It is therefore crucial to supplement with an adequate dose of CDCA early to improve clinical symptoms and to normalize laboratory tests." @default.
• W2892296559 created "2018-09-27" @default.
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• W2892296559 date "2018-09-21" @default.
• W2892296559 modified "2023-10-03" @default.
• W2892296559 title "Infant cholestasis patient with a novel missense mutation in the <i>AKR1D1</i> gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literature" @default.
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• W2892296559 doi "https://doi.org/10.3748/wjg.v24.i35.4086" @default.
• W2892296559 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6148433" @default.
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