Water intake disorder in a DEND syndrome afflicted patient with R50P mutation

Endocrine Journal

Kensuke Kumamoto¹  Seiichi Takenoshita¹  Yuko Maejima³  Shinji Hasegawa⁴  Shoichiro Horita²  Juris Galvanovskis²  Kenju Shimomura³ 

[1] Department of Organ Regulatory Surgery, Fukushima Medical University School of Medicine, Fukushima, Japan;The Department of Physiology Anatomy and Genetics, Oxford University, Oxford, England;Department of Electrophysiology and Oncology, Fukushima Medical University School of Medicine, Fukushima, Japan;Paediatric Division, Nagoya Memorial Hospital, Nagoya, Japan

关键词: KATP channel;    DEND syndrome;    Sulfonylurea;   

DOI  :  10.1507/endocrj.EJ14-0392

学科分类：内分泌与代谢学

来源: Japan Endocrine Society

【 摘 要 】

References(26)In this study, we present a case of developmental delay, epilepsy and neonatal diabetes (DEND) syndrome in a young male patient with the R50P mutation located in the Kir6.2 subunit of the ATP-sensitive K+ (KATP) channel.Whereas most patients with DEND syndrome are resistant to sulfonylurea therapy, our patient was responsive to sulfonylurea, lacked the most common neurological symptoms, such as epilepsy, but refused to drink water.His serum electrolytes and plasma osmolarity were normal but the serum vasopressin level was increased.To investigate the underlying mechanism of his water intake disorder, a 5 μL aliquot of 340 μM KATP channel opener diazoxide or 100 μM KATP channel inhibitor glibenclamide was injected into the third ventricle of the rat brain, and water intake was monitored.Although the injection of glibenclamide had no effect, injection of diazoxide significantly increased water intake by about 1.5 fold without affecting food intake.This result indicates that the KATP channel activity in the brain may have an influence on water intake.Here, we present the first case of a DEND syndrome-afflicted patient with water intake disorder and increased serum vasopressin level, possibly related to altered KATP channel activity.

【 授权许可】

Unknown