Water intake disorder in a DEND syndrome afflicted patient with R50P mutation.
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.
Department of Electrophysiology and Oncology, Fukushima Medical University School of Medicine, Fukushima, Japan.
Yuko
Y
Maejima
Shinji
S
Hasegawa
Shoichiro
S
Horita
Kensuke
K
Kumamoto
Juris
J
Galvanovskis
Seiichi
S
Takenoshita
Kenju
K
Shimomura
D019943:Amino Acid Substitution; D000818:Animals; D001120:Arginine / Q000235:genetics; D002648:Child; D002658:Developmental Disabilities / Q000235:genetics*; D004326:Drinking / Q000235:genetics*; D004827:Epilepsy / Q000150:complications / Q000235:genetics*; D006801:Humans; D006943:Hyperglycemia / Q000150:complications / Q000235:genetics*; D008297:Male; D008958:Models, Molecular; D020125:Mutation, Missense; D024661:Potassium Channels, Inwardly Rectifying / Q000737:chemistry / Q000235:genetics*; D011392:Proline / Q000235:genetics; D051381:Rats; D017208:Rats, Wistar; D013577:Syndrome; D000099161:Kcnj11 Channel
D001120:Arginine; D024661:Potassium Channels, Inwardly Rectifying; D011392:Proline; D000099161:Kcnj11 Channel