Child Kidney Dis > Accepted Articles
Childhood Kidney Diseases 2022;0(0): 0
A Female Case of Desmopressin Responding Nephrogenic Diabetes Insipidus
Juyeon Lee1 , Hae Il Cheong2 , Jung Won Lee3 , Ki Soo Pai1
1Department of Pediatrics, Ajou University College of Medicine, Suwon-si, Gyeonggi-do, Korea
2Department of Pediatrics, Hallym University Sacred Heart Hospital, Anyang-si, Gyeonggi-do, Korea
3Department of Pediatrics, Ewha Womans University College of Medicine, Yangcheon-gu, Seoul, Korea
Corresponding Author: Ki Soo Pai ,Tel: 010-3664-4439, Fax: 031-219-5160, Email:
Received: October 7, 2022;  Accepted: November 8, 2022.
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Nephrogenic diabetes insipidus, decreased ability to concentrate urine, with production of large amounts of urine, is caused by the refractory response of renal tubules to the action of antidiuretic hormone. This rare disorder, known as X-linked nephrogenic diabetes insipidus, is caused by a mutation in the arginine vasopressin receptor 2 gene. Because it is hereditary, most patients are male. This report highlights a case of nephrogenic diabetes insipidus in a 3-year 5-month-old female; upon presentation to the hospital, her symptoms included frequent urination and consumption of a significant amount of water, which had begun two years ago. The results of blood tests showed increased levels of serum antidiuretic hormone, and sellar MRI showed no abnormality. The results of the water restriction test and the desmopressin administration test confirmed the diagnosis of nephrogenic diabetes insipidus showing a partial response to desmopressin. The results of genetic testing indicated the presence of an arginine vasopressin receptor 2 mutation, a heterozygous missense mutation (p.Val88Met), suggesting inheritance of X-linked nephrogenic diabetes insipidus. This report describes a significant case of symptomatic X-linked nephrogenic diabetes insipidus in a female patient who showed a partial response to desmopressin.
Key words: Nephrogenic Diabetes Insipidus; Polydipsia; Fever of Unknown Origin

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