Academic Journal
Plant sterol hyperabsorption caused by uncontrolled diabetes in a patient with a heterozygous ABCG5 variant
| العنوان: | Plant sterol hyperabsorption caused by uncontrolled diabetes in a patient with a heterozygous ABCG5 variant |
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| المؤلفون: | Masashi Hasebe, Yorihiro Iwasaki, Yamato Keidai, Kanako Iwasaki, Sachiko Honjo, Akihiro Hamasaki |
| المصدر: | Journal of Diabetes Investigation, Vol 13, Iss 11, Pp 1934-1938 (2022) |
| بيانات النشر: | Wiley, 2022. |
| سنة النشر: | 2022 |
| المجموعة: | LCC:Diseases of the endocrine glands. Clinical endocrinology |
| مصطلحات موضوعية: | ABCG5, Plant sterols, Type 1 diabetes, Diseases of the endocrine glands. Clinical endocrinology, RC648-665 |
| الوصف: | ABSTRACT Plant sterol intake is widely recommended for patients with cardiovascular risk factors based on the inhibitory effect on intestinal cholesterol absorption. Although plant sterols, once absorbed, can promote atherosclerosis, their intake is believed to be safe because of poor absorption, except in rare hyperabsorbers with homozygous ABCG5/8 mutations. We report a case of new‐onset type 1 diabetes accompanied by hypercholesterolemia. At the initial presentation with diabetic ketoacidosis, the patient showed marked hypercholesterolemia. Whole‐exome sequencing revealed a heterozygous pathogenic variant in ABCG5 (p.R419H). The initial serum plant sterol levels were markedly high (sitosterol 32.5 μg/mL, campesterol 66.0 μg/mL), close to the range observed in patients with homozygous ABCG5/8 mutations, which were largely reduced by insulin treatment without ezetimibe. The addition of ezetimibe normalized plant sterol levels. These findings provide the first evidence that uncontrolled diabetes plays a causal role in the pathogenesis of phytosterolemia. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2040-1124 2040-1116 |
| Relation: | https://doaj.org/toc/2040-1116; https://doaj.org/toc/2040-1124 |
| DOI: | 10.1111/jdi.13874 |
| URL الوصول: | https://doaj.org/article/d0021a1e02df40849cd3d9fcab3514c8 |
| رقم الانضمام: | edsdoj.0021a1e02df40849cd3d9fcab3514c8 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 20401124 20401116 |
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| DOI: | 10.1111/jdi.13874 |