Clinical outcomes among children with primary nephrogenic diabetes insipidus
Rattachement africain : kr, Éthiopie. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
ABSTRACT Background Primary nephrogenic diabetes insipidus (NDI) is a rare inherited disorder with limited data on long-term outcomes. This study assessed longitudinal outcomes with primary NDI. Methods This multicenter retrospective study included 63 patients with primary NDI. Growth rates and estimated glomerular filtration (eGFR) were analyzed via a piecewise linear mixed-effects model during the pediatric period. Results AVPR2 and AQP2 mutations were identified in 74.6% and 9.5% of patients, respectively. The median ages at diagnosis and last follow up were 0.41 and 12.37 years, respectively. Height Z-scores declined from birth to 1.5 years and improved thereafter, with slopes of −2.626, −0.563, 0.102, and 0.031 per year across breakpoints at 0.5, 1.5, and 7 years. Although none of the patients met the criteria for short stature by age 18, the mean final height Z-score remained below average and was significantly lower than that at birth. Weight and weight-for-height Z-scores initially declined and then improved, with slope changes at 0.5 and 0.7 years. By the age of 18, 38.9% were overweight or obese. eGFR increased rapidly before 1.4 years (slope 25.61 ml/min/1.73 m2/year), and slowly thereafter (slope 0.58), reaching eGFR ≥90 ml/min/1.73 m2 at a median age of 5.1 years. The proportion of patients with eGFR <90 ml/min/1.73 m2 decreased to 34.6% at 14 years, then rose to 43.8% by the age of 18. Treatment-associated complications included hypokalemia (64.5%), alkalosis (61.1%), and hyperuricemia (60.7%). Conclusions Patients with primary NDI exhibit a dynamic growth trajectory, delayed achievement of normal GFR with subsequent risk of chronic kidney disease, and frequent treatment-associated complications. These findings underscore the need for timely and individualized long-term management.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Clinical outcomes among children with primary nephrogenic diabetes insipidus
- Date Crossref
- 01/10/2025
- Éditeur
- Oxford University Press (OUP)
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Pusan National University Yangsan Hospital pays non établi dans la noticeÉtablissement de santé
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The Catholic University of Korea Bucheon St. Mary's Hospital pays non établi dans la noticeÉtablissement de santé
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Catholic University of Korea pays non établi dans la noticeUniversité ou école supérieure
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Seoul National University Department of Pediatrics pays non établi dans la noticeUniversité ou école supérieure
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New Generation University College Éthiopie (code pays fourni par la source)Université ou école supérieure
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Seoul National University Bundang Hospital pays non établi dans la noticeÉtablissement de santé
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Seoul National University Children's Hospital pays non établi dans la noticeÉtablissement de santé
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Korea University Medical Center pays non établi dans la noticeÉtablissement de santé
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Korea University Guro Hospital Department of Pediatrics pays non établi dans la noticeÉtablissement de santé
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Kyungpook National University Department of Pediatrics pays non établi dans la noticeUniversité ou école supérieure
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Yeungnam University Department of Pediatrics pays non établi dans la noticeUniversité ou école supérieure
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Chung-Ang University Hospital pays non établi dans la noticeÉtablissement de santé
Pusan National University Yangsan Hospital, The Catholic University of Korea Bucheon St. Mary's Hospital et Catholic University of Korea, avec 9 autres affiliations. Pays d’affiliation : Éthiopie.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.