Maturity-onset diabetes of the young type 3 caused by genetic mutation of hepatocyte nuclear factor-1α: One family report / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
;
(12): 603-606, 2020.
Article
in Chinese
| WPRIM
| ID: wpr-870070
ABSTRACT
The study was initiated from a child with diabetes. After we collected his clinical data and traced back his family history of diabetes, a clinical diagnosis of maturity-onset diabetes of the young(MODY)was made. To amplify and sequence the target gene, the genomic DNA was extracted from the anticoagulant blood samples of the patient and his first-degree relatives, revealing a missense mutation(c.779C>T)in exon 4 of hepatocyte nuclear factor-1α in the proband and his father. The above sequencing result confirms the diagnosis of MODY3. During one year follow-up, the proband achieved the strict control of blood glucose with the use of repaglinide and his father got a notable improvement of blood glucose after his drug was shifted to the long-acting sulfonylurea.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Endocrinology and Metabolism
Year:
2020
Type:
Article
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