Nephrogenic diabetes insipidus in children (Review)

Duicu,Carmen; Pitea,Ana Maria; Săsăran,Oana Maria; Cozea,Iulia; Man,Lidia; Bănescu,Claudia

doi:10.3892/etm.2021.10178

Nephrogenic diabetes insipidus in children (Review)

Authors:
- Carmen Duicu
- Ana Maria Pitea
- Oana Maria Săsăran
- Iulia Cozea
- Lidia Man
- Claudia Bănescu
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Affiliations: Department of Pediatrics, ‘George Emil Palade’ University of Medicine, Pharmacy, Sciences and Technology, 540142 Târgu Mureş, Romania, Department of Pediatric Cardiology, ‘George Emil Palade’ University of Medicine, Pharmacy, Sciences and Technology, 540142 Târgu Mureş, Romania, Department of Genetics, ‘George Emil Palade’ University of Medicine, Pharmacy, Sciences and Technology, 540142 Târgu Mureş, Romania
Published online on: May 11, 2021 https://doi.org/10.3892/etm.2021.10178
Article Number: 746

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Abstract

Nephrogenic diabetes insipidus (NDI) is characterized by impaired urinary concentrating ability, despite normal or elevated plasma concentrations of the antidiuretic hormone, arginine vasopressin (AVP). NDI can be inherited or acquired. NDI can result from genetic abnormalities, such as mutations in the vasopressin V2 receptor (AVPR2) or the aquaporin‑2 (AQP2) water channel, or acquired causes, such as chronic lithium therapy. Congenital NDI is a rare condition. Mutations in AVPR2 are responsible for approximately 90% of patients with congenital NDI, and they have an X‑linked pattern of inheritance. In approximately 10% of patients, congenital NDI has an autosomal recessive or dominant pattern of inheritance with mutations in the AQP2 gene. In 2% of cases, the genetic cause is unknown. The main symptoms at presentation include growth retardation, vomiting or feeding concerns, polyuria plus polydipsia, and dehydration. Without treatment, most patients fail to grow normally, and present with associated constipation, urological complication, megacystis, trabeculated bladder, hydroureter, hydronephrosis, and mental retardation. Treatment of NDI consist of sufficient water intake, low‑sodium diet, diuretic thiazide, sometimes in combination with a cyclooxygenase (COX) inhibitor (indomethacin) or nonsteroidal anti‑inflammatory drugs (NSAIDs), or hydrochlorothiazide in combination with amiloride. Some authors note a generally favorable long‑term outcome and an apparent loss of efficacy of medical treatment during school age.

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