Characteristics of Japanese aldosterone-producing adenomas with KCNJ5 mutations
| العنوان: | Characteristics of Japanese aldosterone-producing adenomas with KCNJ5 mutations |
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| المؤلفون: | Daisuke Takada, Tetsunari Oyama, Shuichi Okada, Tsugumichi Saito, Nobuyuki Shibusawa, Jun Horiguchi, Sumiyasu Ishii, Atsushi Ozawa, Akiko Katano-Toki, Eijiro Yamada, Rin Nagaoka, Shunichi Matsumoto, Satoshi Yoshino, Takashi Okamura, Tetsurou Satoh, Takuya Tomaru, Masanobu Yamada, Yasuyo Nakajima, Kazuhiko Horiguchi |
| المصدر: | Endocrine Journal. 64:39-47 |
| بيانات النشر: | Japan Endocrine Society, 2017. |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | Adult, Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, education, 030209 endocrinology & metabolism, 030204 cardiovascular system & hematology, Polymorphism, Single Nucleotide, 03 medical and health sciences, chemistry.chemical_compound, Sex Factors, 0302 clinical medicine, Endocrinology, Japan, Internal medicine, Hyperaldosteronism, mental disorders, KCNJ5, Humans, Medicine, Steroid 11-beta-hydroxylase, Aldosterone, Gene, Aged, biology, business.industry, Middle Aged, Phenotype, Adrenal Cortex Neoplasms, Blood pressure, medicine.anatomical_structure, G Protein-Coupled Inwardly-Rectifying Potassium Channels, chemistry, CYP17A1, Zona glomerulosa, Adrenocortical Adenoma, Mutation, biology.protein, Female, Zona Glomerulosa, business, psychological phenomena and processes |
| الوصف: | Somatic mutations in KCNJ5 gene have been identified in patients with adrenal aldosterone-producing adenomas (APAs). We previously reported that Japanese patients with APAs had distinct characteristics from patients in Western countries; i.e. they had a high frequency of KCNJ5 mutations and exhibited a frequent association with cortisol co-secretion. Therefore, APAs among Japanese patients may have different features from those in Western countries. We added recent cases, examined 47 cases (43% male) of APAs, including clinicopathological features, KCNJ5 mutations, and the mRNA levels of several steroidogenic enzymes, and compared the results obtained to those reported in other countries. While the prevalence of KCNJ5 mutations is approximately 40% in Western countries, 37 APA cases (78.7%) showed mutations: 26 with p.G151R and 11 with p.L168R. Although a significant gender difference has been reported in the frequency of KCNJ5 mutations in Europe, we did not find any gender difference. However, the phenotypes of Japanese patients with mutations were similar to those of patients in Western countries; patients were younger and had higher plasma aldosterone levels, lower potassium levels, and higher diastolic blood pressure. Reflecting these phenotypes, APAs with mutations had higher CYP11B2 mRNA levels. However, in contrast to APAs in Western countries, Japanese APAs with mutations showed lower CYP11B1, CYP17A1, and CYP11A1 mRNA levels. These findings demonstrated that Japanese APA patients may have distinct features including a higher prevalence of KCNJ5 mutations, no gender difference in the frequency of these mutations, and characteristics similar to the zona glomerulosa. |
| تدمد: | 1348-4540 0918-8959 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1855053f38f4a1680bc26b2078b47756Test https://doi.org/10.1507/endocrj.ej16-0243Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....1855053f38f4a1680bc26b2078b47756 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 13484540 09188959 |
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