ArticleOrphanet journal of rare diseases2021
Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 16 citations in OpenAlex.
- Delayed diagnosis of 3β-HSD7 deficiency in adolescence: Two case reports and review of the literature.JPGN reports · 2026Article
- Article
- High-fat diet alters retinal lipid composition and gene expression networks in mice.BMC biology · 2025Article
- The Diagnostic Saga of a Rare Congenital Bile Acid Synthesis Disorder: A Case Report.Clinical medicine insights. Pediatrics · 2025Article
- Navigating cholestasis: identifying inborn errors of bile acid metabolism for precision diagnosis.Frontiers in pediatrics · 2024Article
- Spectrum of renal lesions in infantile cholestasis.Clinical liver diseaseArticle
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBiallelic variants in HSD3B7 cause 3β-hydroxy-Δ
methodsThe medical records of a cohort of 39 unrelated patients with genetically and biochemically confirmed HSD3B7 deficiency were examined to determine whether there exist genotype-phenotype relationships in this bile acid synthesis disorder.
resultsIn all, 34 of the 44 variants identified in HSD3B7 were novel. A total of 32 patients presented early with neonatal cholestasis, and 7 presented after 1-year of age with liver failure (n = 1), liver cirrhosis (n = 3), cholestasis (n = 1), renal cysts and abnormal liver biochemistries (n = 1), and coagulopathy from vitamin K1 deficiency and abnormal liver biochemistries (n = 1). Renal lesions, including renal cysts, renal stones, calcium deposition and renal enlargement were observed in 10 of 35 patients. Thirty-three patients were treated with oral chenodeoxycholic acid (CDCA) resulting in normalization of liver biochemistries in 24, while 2 showed a significant clinical improvement, and 7 underwent liver transplantation or died. Remarkably, renal lesions in 6 patients resolved after CDCA treatment, or liver transplantation. There were no significant correlations between genotype and clinical outcomes.
conclusionsIn what is the largest cohort of patients with HSD3B7 deficiency thus far studied, renal lesions were a notable clinical feature of HSD3B7 deficiency and these were resolved with suppression of atypical bile acids by oral CDCA administration.
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