ArticlePediatric nephrology (Berlin, Germany)2021
Phenotypic variability in distal acidification defects associated with WDR72 mutations.
Article in Pediatric nephrology (Berlin, Germany), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 30 citations in OpenAlex.
- 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
- Mechanisms of primary failure of eruption: a new model of multidimensional framework.Progress in orthodontics · 2025Review
- Etiology and outcomes of primary renal tubular acidosis.Pediatric nephrology (Berlin, Germany) · 2025Article
- Article
- Clinical characteristics and genetic profile of children with WDR72-associated distal renal tubular acidosis: a nationwide experience.Pediatric nephrology (Berlin, Germany) · 2025Article
- Neonatal Onset Distal Renal Tubular Acidosis: Description of Two Novel Variants on theJournal of pediatric genetics · 2024Article
- Article
- Review of childhood genetic nephrolithiasis and nephrocalcinosis.Frontiers in genetics · 2024Review
- Genetic Diagnosis and Treatment of Inherited Renal Tubular Acidosis.Kidney diseases (Basel, Switzerland) · 2023Review
- The pathophysiology of distal renal tubular acidosis.Nature reviews. Nephrology · 2023Review
- NovelJournal of personalized medicine · 2023Article
- Article
- Hypoplastic amelogenesis imperfecta, bilateral nephrolithiasis and FGF-23-mediated hypophosphataemia: a triad of FAM20A-related enamel renal syndrome.BMJ case reports · 2022Article
- Identification of the C-terminal region in Amelogenesis Imperfecta causative protein WDR72 required for Golgi localization.Scientific reports · 2022Article
- WDR72 regulates vesicle trafficking in ameloblasts.Scientific reports · 2022Article
- Hypokalemic paralysis and discolored teeth in a 12-year-old girl: Answers.Pediatric nephrology (Berlin, Germany) · 2021Article
- Approach to Renal Tubular Acidosis - A Review.Indian journal of endocrinology and metabolismReview
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDistal renal tubular acidosis (RTA) is typically caused by defects in ATP6V0A4, ATP6V1B1, and SLC4A1, accounting for 60-80% of patients. Genes recently implicated include FOXI1, ATP6V1C2, and WDR72, of which WDR72 is associated with dental enamel defects.
methodsWe describe 4 patients, from three unrelated consanguineous families, with RTA and amelogenesis imperfecta. Distal tubular acidification was evaluated by furosemide-fludrocortisone test, urine-to-blood PCO2 gradient and fractional excretion of bicarbonate. Exome sequencing was performed using a panel of genes implicated in human disease.
resultsPatients had polyuria, hypokalemia, hypercalciuria, and nephrocalcinosis, but metabolic acidosis varied in severity. Although all patients acidified urine to pH < 5.3 during furosemide-fludrocortisone test, urine-to-blood PCO
conclusionPatients with WDR72 mutations show mild rate-dependent distal RTA with variable metabolic acidosis, and intact ability to acidify the urine on provocative testing. Concomitant proximal tubular dysfunction may be present. Mutations in WDR72 should be considered in patients with suspected distal RTA, especially if associated with dental defects.
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