Kanemitsu Noriyuki, Kawauchi Akihiro, Nishida Masaya, Tanaka Yoshiyuki, Mizutani Yoichi, Shirahama Shuya, Miki Tsuneharu
Department of Urology, Kyoto Prefectural University of Medicine, Kawaramachi-Hirokoji, Kyoto 602-8566, Japan.
Pediatr Nephrol. 2002 Dec;17(12):1063-5. doi: 10.1007/s00467-002-0985-0. Epub 2002 Oct 8.
A 10-year-old male referred to our clinic with the chief complaint of nocturnal enuresis also complained of daytime polyuria, frequency, and polydipsia. The clinical diagnosis was central diabetes insipidus. Since the patient's father had complained of similar symptoms, the arginine vasopressin-neurophysin II gene was examined. This revealed a single base substitution in one of two alleles in the patient, his father, and his grandfather (a C to T transition at nucleotide position 280 at codon 19 in the first exon). In conclusion, a history of polyuria or polydipsia should be carefully noted and the urinary volume and urine gravity or osmolarity examined in cases of nocturnal enuresis.
一名10岁男性因夜间遗尿为主诉前来我院就诊，同时伴有白天多尿、尿频和烦渴症状。临床诊断为中枢性尿崩症。由于患者的父亲也有类似症状，因此对精氨酸加压素-神经垂体素II基因进行了检测。结果发现患者、其父亲和祖父的两个等位基因之一存在单碱基替换（外显子1第19密码子核苷酸位置280处的C到T转换）。总之，对于夜间遗尿患者，应仔细询问多尿或烦渴病史，并检查尿量及尿比重或渗透压。
