Tandem Mass Spectrometric Determination of Atypical 3 -Hydroxy-Δ-Bile Acids in Patients with 3 -Hydroxy-Δ-C27-Steroid Oxidoreductase Deficiency: Application to Diagnosis and Monitoring of Bile Acid Therapeutic Response
نویسندگان
چکیده
BACKGROUND: 3 -Hydroxy-C27-steroid oxidoreductase (HSD3B7) deficiency, a progressive cholestatic liver disease, is the most common genetic defect in bile acid synthesis. Early diagnosis is important because patients respond to oral primary bile acid therapy, which targets the negative feedback regulation for bile acid synthesis to reduce the production of hepatotoxic 3 -hydroxybile acids. These atypical bile acids are highly labile and difficult to accurately measure, yet a method for accurate determination of 3 -hydroxy-bile acid sulfates is critical for dose titration and monitoring response to therapy.
منابع مشابه
Atypical clinical presentation and successful treatment with oral cholic acid of a child with defective bile acid synthesis due to a novel mutation in the HSD3B7 gene
We report definitive diagnosis and effective treatment with oral cholic acid in one Italian male child affected by 3β-hydroxy-Δ5-C27-steroid dehydrogenase (3β-HSD) deficiency. He presented with failure to thrive, hepatomegaly and multiple cystic images in kidneys; no biochemical evidence of cholestasis. Large amounts of bile acid metabolites was detected in urine by fast atom bombardment ioniza...
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