MODY11 induced by heterozygous mutations of a novel B lymphocyte kinase / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
;
(12): 1095-1097, 2022.
Artigo
em Chinês
| WPRIM
| ID: wpr-994289
ABSTRACT
To characterize the clinical and molecular features of a patient with maturity-onset diabetes of the young 11(MODY11) and literature review. The patient was a 30-year-old female with hyperglycemia for 2 years. Failure to thrivea, primary amenorrhea, intellectual impairment, and severe hyperlipidemia were present at the same time. A novel mutations of the B lymphocyte kinase gene(BLK) c. 1025C>T(p.A342V) was found in the patient. Literature review revealed that there were more than ten mutation sites in BLK-MODY11. Some of them had hyperglycemia, over weight or systemic lupus erythematosus. To date, the clinical characteristics of the patient, such as growth retardation, primary amenorrhea, and intellectual impairment have not been reported in MODY11. Our clinical report further expands the clinical presentations and variabilities of MODY11.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Chinese Journal of Endocrinology and Metabolism
Ano de publicação:
2022
Tipo de documento:
Artigo
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