Childhood Kidney Diseases

Korean Society of Pediatric Nephrology (대한소아신장학회)
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Desmopressin responding female nephrogenic diabetes insipidus: a case report

  • Juyeon, Lee (Department of Pediatrics, Ajou University School of Medicine) ;
  • Hae Il, Cheong (Department of Pediatrics, Hallym University Sacred Heart Hospital) ;
  • Jung Won, Lee (Department of Pediatrics, Ewha Womans University College of Medicine) ;
  • Ki Soo, Pai (Department of Pediatrics, Ajou University School of Medicine)
  • Received : 2022.10.07
  • Accepted : 2022.11.08
  • Published : 2022.12.31
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Abstract

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 AVPR2 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 urinationand consumptionof a significant amount ofwater,which had begun2 years ago. The results of blood tests showed increased levels of serum antidiuretic hormone, and sellar magnetic resonance imaging 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 AVPR2 mutation, a heterozygous missense mutation (p.Val88Met), suggesting inheritance of X-linked nephrogenic diabetes insipidus. This report describes a significant case of symptomaticX-linked nephrogenic diabetes insipidus in a female patient who showed a partial response to desmopressin.

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References

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