ArticlePediatric nephrology (Berlin, Germany)2025
Clinical characteristics and genetic profile of children with WDR72-associated distal renal tubular acidosis: a nationwide experience.
Article in Pediatric nephrology (Berlin, Germany), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Daily compared with alternate-day levamisole in pediatric nephrotic syndrome: an open-label randomized controlled study.Pediatric nephrology (Berlin, Germany) · 2024Trial
- Clinical and genetic spectrum of distal renal tubular acidosis in children: findings from Indian tubular disorders registry.Pediatric nephrology (Berlin, Germany) · 2026Article
- Renal cysts in WDR72-associated distal renal tubular acidosis: expanding the phenotypic spectrum.CEN case reports · 2026Article
- Molecular genetics and long-term outcomes of primary distal renal tubular acidosis in Asia.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2026Observational
- WDR72 Is Required for Urinary Acidification and Normal HActa physiologica (Oxford, England) · 2026Article
- Article
- Etiology, clinical characteristics, genetic profile, and outcomes of children with refractory rickets at a referral center in India: a cohort study.Pediatric nephrology (Berlin, Germany) · 2025Article
- Distal renal tubular acidosis and WDR72: some answers, more questions.Pediatric nephrology (Berlin, Germany) · 2025Article
- Furosemide Stress Test (FST) in pediatric critical care: a promising tool with limitations.Pediatric nephrology (Berlin, Germany) · 2025Article
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19 authors.
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Abstract
backgroundLimited data, primarily from small case series, exist regarding the clinical profile, genetic variants, and outcomes of WDR72-associated distal renal tubular acidosis (WDR72-dRTA).
methodsOur study enrolled children diagnosed with WDR72-dRTA below 18 years of age from 9 Indian centers and analyzed their clinical characteristics, genetic profiles, and outcomes. Potential genotype-phenotype correlations were explored.
resultsWe report 22 patients (59% female) with WDR72-dRTA who were diagnosed at a median age of 5.3 (3, 8) years with polyuria (n = 17; 77.3%), poor growth (16; 72.7%), and rickets (9; 40.9%). Amelogenesis imperfecta was present in 21 (95.5%) cases. At presentation, all patients had normal anion gap metabolic acidosis; hypokalemia and nephrocalcinosis were seen in 17 (77.3%) patients each. Seven (31.8%) patients had concomitant proximal tubular dysfunction. Genetic analysis identified biallelic nonsense variants in 18 (81.8%) patients, including novel variants in 6 cases. A previously reported variant, c.88C > T, and a novel variant, c.655C > T, were the most frequent variants, accounting for 10 (45.5%) cases. Over a median follow-up of 1.3 (1, 8) years, the height velocity improved by 0.74 (0.2, 1.2) standard deviation scores, while 3 children (13.6%) progressed to chronic kidney disease (CKD) stage 2, with eGFR ranging from 67 to 76 mL/min/1.73 m
conclusionsWDR72-dRTA should be considered in children with typical features of amelogenesis imperfecta and dRTA. Biallelic nonsense variants are common in Asians. While most patients respond well to treatment with improved growth and preserved eGFR, on long-term follow-up, a decline in eGFR may occur.
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