Congenital nephrogenic diabetes insipidus due to the mutation in
AVPR2 gene
Case report
Congenital nephrogenic diabetes insipidus
Gene mutation
Magnetic resonance imaging
Neonate
Journal
World journal of clinical cases
ISSN: 2307-8960
Titre abrégé: World J Clin Cases
Pays: United States
ID NLM: 101618806
Informations de publication
Date de publication:
26 Dec 2020
26 Dec 2020
Historique:
received:
27
07
2020
revised:
06
10
2020
accepted:
27
10
2020
entrez:
4
1
2021
pubmed:
5
1
2021
medline:
5
1
2021
Statut:
ppublish
Résumé
Congenital nephrogenic diabetes insipidus (CNDI) is a rare hereditary renal disorder that is caused by mutations in On February 1, 2020, a male neonate was hospitalized 17 d after birth due to a 7 d period of pyrexia. The patient's symptoms included recurrent pyrexia, hypernatremia and hyperchloremia, which were difficult to treat. The patient was fed on demand, and water was additionally provided between milk intakes. A combination treatment of hydrochlorothiazide and amiloride was administered. After the treatment, body temperature and electrolyte levels returned to normal, the volume of urine was significantly reduced and the patient was subsequently discharged. Genetic tests confirmed that the patient carried the CNDI in the neonatal period is rare, and its clinical manifestations are unspecific with some patients merely showing recurrent fever and electrolyte disturbance. Genetic testing of
Sections du résumé
BACKGROUND
BACKGROUND
Congenital nephrogenic diabetes insipidus (CNDI) is a rare hereditary renal disorder that is caused by mutations in
CASE SUMMARY
METHODS
On February 1, 2020, a male neonate was hospitalized 17 d after birth due to a 7 d period of pyrexia. The patient's symptoms included recurrent pyrexia, hypernatremia and hyperchloremia, which were difficult to treat. The patient was fed on demand, and water was additionally provided between milk intakes. A combination treatment of hydrochlorothiazide and amiloride was administered. After the treatment, body temperature and electrolyte levels returned to normal, the volume of urine was significantly reduced and the patient was subsequently discharged. Genetic tests confirmed that the patient carried the
CONCLUSION
CONCLUSIONS
CNDI in the neonatal period is rare, and its clinical manifestations are unspecific with some patients merely showing recurrent fever and electrolyte disturbance. Genetic testing of
Identifiants
pubmed: 33392325
doi: 10.12998/wjcc.v8.i24.6418
pmc: PMC7760441
doi:
Types de publication
Case Reports
Langues
eng
Pagination
6418-6424Informations de copyright
©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
Déclaration de conflit d'intérêts
Conflict-of-interest statement: The authors declare that they have no competing interests.
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