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Objectives <p>To 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.</p> Methods <p>An ambispective analysis was conducted, focusing on clinical, biochemical, genetic evaluations, treatments, renal and neurological outcomes.</p> Results <p>Data 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.</p> Conclusions <p>This study provides the first comprehensive analysis of congenital AVP-R in a low-middle-income setting.</p>

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CANDID Study: Clinical and Molecular Characterization of Congenital Arginine Vasopressin-Resistance and the Use of a Novel Diagnostic Biomarker in Indian Children

  • 期刊论文

  • 发表日期：

    2025年2月24日

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  • Sayan Banerjee,
  • Pratyush P. Pathak,
  • Rajni Sharma,
  • Arun George,
  • Anju Bala,
  • Rakesh Kumar,
  • Savita Attri,
  • Lesa Dawman,
  • Adhyatam Singh,
  • Devi Dayal,
  • Jaivinder Yadav

摘要

Objectives

To 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.

Methods

An ambispective analysis was conducted, focusing on clinical, biochemical, genetic evaluations, treatments, renal and neurological outcomes.

Results

Data 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.

Conclusions

This study provides the first comprehensive analysis of congenital AVP-R in a low-middle-income setting.