Neonatal diabetes caused by the heterozygous Pro1198Leu mutation in the ABCC8 gene in a male infant: 6‐year clinical course
| العنوان: | Neonatal diabetes caused by the heterozygous Pro1198Leu mutation in the ABCC8 gene in a male infant: 6‐year clinical course |
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| المؤلفون: | Machi Furuta, Hiroyuki Ariyasu, Asako Doi, Shohei Matsuno, Hiroto Furuta, Shinsuke Uraki, Yuko Shima, Takashi Akamizu, Masakazu Miyawaki, Hiroshi Iwakura, Miki Iwamoto, Norihiko Matsutani, Shuhei Morita, Masahiro Nishi, Hiroyuki Suzuki |
| المصدر: | Journal of Diabetes Investigation, Vol 11, Iss 2, Pp 502-505 (2020) Journal of Diabetes Investigation |
| بيانات النشر: | Wiley, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Pediatrics, medicine.medical_specialty, Diabetic ketoacidosis, medicine.drug_class, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, 030209 endocrinology & metabolism, Case Report, Sulfonylurea receptor 1, Diseases of the endocrine glands. Clinical endocrinology, 03 medical and health sciences, 0302 clinical medicine, Diabetes mellitus, Internal Medicine, medicine, 030212 general & internal medicine, ABCC8 gene, business.industry, Insulin, Neonatal diabetes, General Medicine, Articles, medicine.disease, RC648-665, Sulfonylurea, Clinical Science and Care, Mutation (genetic algorithm), Abnormality, business, Rare disease |
| الوصف: | Neonatal diabetes is a rare disease, often caused by a monogenic abnormality. A male infant patient developed diabetic ketoacidosis at 2 months‐of‐age due to the heterozygous ABCC8 gene mutation (p.Pro1198Leu). After genetic diagnosis, insulin therapy was successfully transitioned to oral sulfonylurea therapy. For >6 years, oral sulfonylurea therapy has been safe and effective, and the required amount of sulfonylureas has progressively decreased. The mutation was transmitted in an autosomal‐dominant fashion across three generations of his family, but the severity of diabetes varied among members from neonatal diabetes to mild diabetes. One family member had normal glucose tolerance despite having the mutation. This case presentation could help in the understanding of neonatal diabetes caused by the ABCC8 gene mutation. A male infant developed diabetic ketoacidosis (DKA) at 2 months‐of‐age due to the heterozygous ABCC8 gene mutation (p.Pro1198Leu). After genetic diagnosis, insulin therapy was successfully transitioned to oral sulfonylurea therapy. After that, for >6 years, oral sulfonylurea therapy has been safe and effective, and the required amount of sulfonylureas has progressively decreased. |
| اللغة: | English |
| تدمد: | 2040-1116 2040-1124 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f90a09043f105d835bd9081747090512 https://doaj.org/article/3732ee6cb89945f1b9ead2c464ff50d2 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....f90a09043f105d835bd9081747090512 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20401116 20401124 |
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