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- Title
A Novel Missense Mutation in the A VPR2 Gene of a Japanese Infant with Nephrogenic Diabetes Insipidus.
- Authors
Takatani, Tomozumi; Matsuo, Kaoru; Kinoshita, Kaori; Takatani, Rieko; Minagawa, Masanori; Kohno, Yoichi
- Abstract
The article discusses the clinical case of a 1-month-old Japanese baby who was hospitalized due to nephrogenic diabetes insipidus (NDI) with a novel missense mutation in the arginine vasopressin receptor 2 (AVPR2) gene. The patient was found to have hypernatremia, high serum osmolality and low urine osmolality. The mutation was not seen in 116 ethnic-matched controlled subjects.
- Subjects
DIABETES in children; HYPERNATREMIA; VASOTOCIN; GENES; HUMAN genetics; NONSENSE mutation
- Publication
Journal of Pediatric Endocrinology & Metabolism, 2010, Vol 23, Issue 4, p415
- ISSN
0334-018X
- Publication type
Article
- DOI
10.1515/jpem.2010.065