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Diabetes with GLP-1R polymorphism (rs3765467) accompanied by myotonic dystrophy: A case of myotonic dystrophy with p.R131Q polymorphism at the glucagon-like peptide-1 receptor (rs3765467) resulting in marked effects of its agonist, dulaglutide.
Kato, Kanako; Jojima, Teruo; Kogai, Takahiko; Tanuma, Dai; Niitani, Takafumi; Sakurai, Shintaro; Iijima, Toshie; Tomaru, Takuya; Usui, Isao; Aso, Yoshimasa.
Afiliación
  • Kato K; Department of Endocrinology and Metabolism, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Shimotsuga, Tochigi, 321-0293, Japan; Department of Endocrinology and Metabolism, Sekishinkai Hospital, 2-37-20 Irumagawa Sayama, Saitama, 350-1305,Japan.
  • Jojima T; Department of Endocrinology and Metabolism, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Shimotsuga, Tochigi, 321-0293, Japan. Electronic address: jojima@dokkyomed.ac.jp.
  • Kogai T; Department of Infection Control and Clinical Laboratory Medicine, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Shimotsuga, Tochigi, 321-0293, Japan. Electronic address: tkogai@dokkyomed.ac.jp.
  • Tanuma D; Department of Endocrinology and Metabolism, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Shimotsuga, Tochigi, 321-0293, Japan.
  • Niitani T; Department of Endocrinology and Metabolism, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Shimotsuga, Tochigi, 321-0293, Japan.
  • Sakurai S; Department of Endocrinology and Metabolism, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Shimotsuga, Tochigi, 321-0293, Japan.
  • Iijima T; Department of Endocrinology and Metabolism, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Shimotsuga, Tochigi, 321-0293, Japan.
  • Tomaru T; Department of Endocrinology and Metabolism, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Shimotsuga, Tochigi, 321-0293, Japan.
  • Usui I; Department of Endocrinology and Metabolism, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Shimotsuga, Tochigi, 321-0293, Japan.
  • Aso Y; Department of Endocrinology and Metabolism, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Shimotsuga, Tochigi, 321-0293, Japan.
Am J Med Sci ; 2024 Jul 08.
Article en En | MEDLINE | ID: mdl-38986908
ABSTRACT
A 47-year-old woman was diagnosed with myotonic dystrophy when admitted for traumatic subarachnoid hemorrhage. Her glycemic control was poor despite administration of pioglitazone, a PPARɤ agonist, and subcutaneous insulin infusion. However, adding a GLP-1 receptor (GLP-1R) agonist markedly improved blood glucose levels, resulting in eventual insulin withdrawal. Genetic testing revealed a heterozygous variant, p.R131Q, in the GLP1R (rs3765467), a common variant in Asia. This variant is known to be associated with increased endogenous insulin from beta cells in response to exogenous GLP-1 infusion. This is the first report and short review of a Japanese case of myotonic dystrophy accompanied by GLP-1R gene polymorphism.
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Texto completo: 1 Base de datos: MEDLINE Idioma: En Revista: Am J Med Sci Año: 2024 Tipo del documento: Article País de afiliación: Japón
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Idioma: En Revista: Am J Med Sci Año: 2024 Tipo del documento: Article País de afiliación: Japón