ArticleIndian journal of pediatrics2026
CANDID Study: Clinical and Molecular Characterization of Congenital Arginine Vasopressin-Resistance and the Use of a Novel Diagnostic Biomarker in Indian Children.
Article in Indian journal of pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
objectivesTo present authors' experience with congenital arginine vasopressin resistance (AVP-R) in children up to 12-y-old at a tertiary care center in Northern India.
methodsAn ambispective analysis was conducted, focusing on clinical, biochemical, genetic evaluations, treatments, renal and neurological outcomes.
resultsData from 11 patients (two females) were included, with an average delay of 18 mo between symptom onset and diagnosis. The majority of children presented with failure to thrive (90.9%), polyuria (90.9%), and hyperosmolality (63.6%) at the time of diagnosis. Nearly one-fourth of the cohort experienced acute kidney injury. Random copeptin levels (340.7 ± 59.56 pmol/L) were significantly higher than the diagnostic cutoff suggested in the literature, and molecular diagnosis confirmed AVPR2 mutations in 90% of the cases. The subjects were followed for a median of 2.1 y (range: 1-4.7 y). During this period, there was a median increase of + 0.79 in BMI/weight-for-height SDS and a 30.55% reduction in urine output. However, 63.63% of the children continued to experience failure to thrive. None of the subjects developed renal structural abnormalities or chronic kidney disease (CKD) ≥ stage 2 by the final follow-up. Neurological evaluation revealed attention deficit hyperactivity disorder and gross developmental delay in two children and one child respectively.
conclusionsThis study provides the first comprehensive analysis of congenital AVP-R in a low-middle-income setting.
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