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- W4248797757 abstract "Abstract Background Biallelic variants in HSD3B7 cause 3β-hydroxy-Δ 5 -C 27 -steroid oxidoreductase (HSD3B7) deficiency, a life-threatening but treatable liver disease. Genetic and correlated clinical information is limited. We retrospectively reviewed the records of 39 unrelated patients with genetically confirmed HSD3B7 deficiency. Results In this cohort, 44 variants (34 novel) of HSD3B7 were detected. 31 patients were referred before one year old for neonatal cholestasis. eight patients were referred after one year old for liver failure (n=2), liver cirhosis (n=3), cholestasis (n=1), renal cysts and abnormal liver biochemistries (n=1), coagulopathy of vitamin K1 deficiency and abnormal liver biochemistries (n=1) respectively. Renal lesions, including renal cysts, renal stones, calcium deposition and renal enlargement were observed in 10 out of 35 patients with available data. 33 patients received oral chenodeoxycholic acid (CDCA) administration, 22 achieved normalization of liver biochemistries, five showed significant clinical improvement, six underwent liver transplantation or died. Renal lesions in six patients resolved after CDCA administration or liver transplantation. There is no significant correlation between genotype and clinical outcome. Conclusions This is so far the largest cohort of HSD3B7 deficiency, and reveals thatrenal lesion is a notable clinical feature of HSD3B7 deficiency and can be resolved with suppression of atypical bile acids." @default.
- W4248797757 created "2022-05-12" @default.
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- W4248797757 date "2021-05-21" @default.
- W4248797757 modified "2023-09-23" @default.
- W4248797757 title "Genetic Spectrum and Clinical Characteristics of 3β-hydroxy-Δ5-C27-steroid Oxidoreductase (HSD3B7) Deficiency in China" @default.
- W4248797757 doi "https://doi.org/10.21203/rs.3.rs-488210/v1" @default.
- W4248797757 hasPublicationYear "2021" @default.
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