【摘 要】
：
The ATP-sensitive K+ channel (KATP) controls insulin secretion from the islet.Mutations in KCN J11 can cause permanent and transient neonatal diabetes.To date, more than 30 KCNJ11 mutations have been
【机 构】
：
National Key Discipline of Pediatrics (Capital Medical University), Ministry of Education, Departmen
【出 处】
：
首都医科大学2013年研究生学术论坛
论文部分内容阅读
The ATP-sensitive K+ channel (KATP) controls insulin secretion from the islet.Mutations in KCN J11 can cause permanent and transient neonatal diabetes.To date, more than 30 KCNJ11 mutations have been revealed to be related to the onset of NDM, most of which are responsive to glibenclamide treatment.In the present study, we sequenced the KCNJ11 gene in a Chinese girl diagnosed as neonatal diabetes mellitus and her parents.A in-frame 15-bps KCNJ11 deletion was identified in the patient, while no KCNJ11 deletions were found in her parents, indicating that this deletion is de novo.The patient was responsive to the treatment of glibenclamide.10 months followed-up showed that besides PNDM, the motor and intelligent developmental of the girl is normal and she suffered no onset of convulsions.The result to some degree improved our knowledge on NDM.
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