ArticleAmerican journal of physiology. Renal physiology2014
Incomplete distal renal tubular acidosis from a heterozygous mutation of the V-ATPase B1 subunit.
Article in American journal of physiology. Renal physiology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 53 citations in OpenAlex.
- Metabolic diagnosis and medical prevention of calcium nephrolithiasis and its systemic manifestations: a consensus statement.Journal of nephrology · 2016Guideline
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- 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
- Human V-ATPase function is positively and negatively regulated by TLDc proteins.Structure (London, England : 1993) · 2024Article
- The pathophysiology of distal renal tubular acidosis.Nature reviews. Nephrology · 2023Review
- The genetics of kidney stone disease and nephrocalcinosis.Nature reviews. Nephrology · 2022Review
- Evaluation of urinary acidification in children: Clinical utility.Frontiers in pediatrics · 2022Review
- Distal renal tubular acidosis: a systematic approach from diagnosis to treatment.Journal of nephrology · 2021Review
- Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2021Article
- Distal renal tubular acidosis: genetic causes and management.World journal of pediatrics : WJP · 2019Review
- Nephrolithiasis secondary to inherited defects in the thick ascending loop of henle and connecting tubules.Urolithiasis · 2019Review
- Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.Urolithiasis · 2019Review
- Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis.Journal of nephrology · 2018Review
- Incomplete Distal Renal Tubular Acidosis and Kidney Stones.Advances in chronic kidney disease · 2018Review
- Targeted deletion of the Ncoa7 gene results in incomplete distal renal tubular acidosis in mice.American journal of physiology. Renal physiology · 2018Article
- Renal Tubular Acidosis: HAdvances in chronic kidney disease · 2018Review
- Personalized Intervention in Monogenic Stone Formers.The Journal of urology · 2018Review
- Genomic medicine for kidney disease.Nature reviews. Nephrology · 2018Review
- Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead.Pediatric health, medicine and therapeutics · 2018Review
- Functional coupling of V-ATPase and CLC-5.World journal of nephrology · 2017Review
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Congenital distal renal tubular acidosis (RTA) from mutations of the B1 subunit of V-ATPase is considered an autosomal recessive disease. We analyzed a distal RTA kindred with a truncation mutation of B1 (p.Phe468fsX487) previously shown to have failure of assembly into the V1 domain of V-ATPase. All heterozygous carriers in this kindred have normal plasma HCO3- concentrations and thus evaded the diagnosis of RTA. However, inappropriately high urine pH, hypocitraturia, and hypercalciuria were present either individually or in combination in the heterozygotes at baseline. Two of the heterozygotes studied also had inappropriate urinary acidification with acute ammonium chloride loading and an impaired urine-blood Pco2 gradient during bicarbonaturia, indicating the presence of a H+ gradient and flux defects. In normal human renal papillae, wild-type B1 is located primarily on the plasma membrane, but papilla from one of the heterozygote who had kidney stones but not nephrocalcinosis showed B1 in both the plasma membrane as well as diffuse intracellular staining. Titration of increasing amounts of the mutant B1 subunit did not exhibit negative dominance over the expression, cellular distribution, or H+ pump activity of wild-type B1 in mammalian human embryonic kidney-293 cells and in V-ATPase-deficient Saccharomyces cerevisiae. This is the first demonstration of renal acidification defects and nephrolithiasis in heterozygous carriers of a mutant B1 subunit that cannot be attributable to negative dominance. We propose that heterozygosity may lead to mild real acidification defects due to haploinsufficiency. B1 heterozygosity should be considered in patients with calcium nephrolithiasis and urinary abnormalities such as alkalinuria or hypocitraturia.
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