ReviewNature reviews. Nephrology2023
The pathophysiology of distal renal tubular acidosis.
Review in Nature reviews. Nephrology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 70 citations in OpenAlex.
- Role and relevance of genetic testing in patients with kidney stones: a review from EAU Section of Endourology.Current opinion in urology · 2026Review
- Bio-hybrid nanovesicles with multimodal antioxidant and immunomodulatory functions attenuate acute kidney injury.Journal of nanobiotechnology · 2026Article
- Hmx2 and Dmrt2 Coordinate the Differentiation of Intercalated Cell Subtypes in Kidney.Journal of the American Society of Nephrology : JASN · 2026Article
- Renal tubular acidosis complication of non-steroidal anti-inflammatory drugs induced interstitial nephritis and its complete resolution with steroids: A case report.World journal of nephrology · 2026Article
- ATP6V1B1-Associated Inherited Distal Renal Tubular Acidosis in Children: Insights from a Literature Review.Children (Basel, Switzerland) · 2026Review
- Deep biochemical phenotyping reveals prognostic value of rare genetic variants in adult kidney stone disease.The Journal of clinical investigation · 2026Observational
- WDR72 Is Required for Urinary Acidification and Normal HActa physiologica (Oxford, England) · 2026Article
- Long-Term Outcomes of IgM-Positive Plasma Cell Tubulointerstitial Nephritis.Kidney international reports · 2026Article
- Liver-kidney crosstalk in primary biliary cholangitis: insights into the mechanisms of renal involvement.Frontiers in immunology · 2026Review
- Sjögren's Disease-Associated Renal Tubular Acidosis: An Integrated Immuno-Tubular Model of Tubular Dysfunction.International journal of medical sciences · 2026Review
- Inherited Type-1 renal tubular acidosis with short stature: a rare case report from Nepal.Annals of medicine and surgery (2012) · 2025Article
- Identification of novel pathogenic mutations inRenal failure · 2025Article
- Sjogren Disease and Nephrolithiasis: A Case Series and Review of the Literature.Clinics and practice · 2025Article
- The Association and Racial-Ethnic Disparities Between Arthritis and Kidney Stone Disease: A Population Study from 2007 To 2020 US National Health and Nutrition Examination Survey.Journal of racial and ethnic health disparities · 2025Article
- Distal renal tubular acidosis triggered by clozapine in a patient with a heterozygous ATP6V0A4 c.1029 + 5G > A variant: a case report and literature review.BMC nephrology · 2025Review
- Descriptive cohort study of transient isolated tubular acidosis in early childhood: experience from a rare kidney disease expert center.European journal of pediatrics · 2025Article
- Genetically predicted blood metabolites mediate the association between immune cell characteristics and urolithiasis: A Mendelian randomization study and mediation analysis.Genes & diseases · 2025Article
- ATP6V0A4 as a novel prognostic biomarker and potential therapeutic target in oral squamous cell carcinoma.BMC oral health · 2025Article
- Hereditary kidney disease with auditory abnormalities: analysis of mutations and clinical phenotypes.BMC medical genomics · 2025Review
- A gain-of-function mutation in ATP6V0A4 drives primary distal renal tubular alkalosis with enhanced V-ATPase activity.The Journal of clinical investigation · 2025Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The kidneys have a central role in the control of acid-base homeostasis owing to bicarbonate reabsorption and production of ammonia and ammonium in the proximal tubule and active acid secretion along the collecting duct. Impaired acid excretion by the collecting duct system causes distal renal tubular acidosis (dRTA), which is characterized by the failure to acidify urine below pH 5.5. This defect originates from reduced function of acid-secretory type A intercalated cells. Inherited forms of dRTA are caused by variants in SLC4A1, ATP6V1B1, ATP6V0A4, FOXI1, WDR72 and probably in other genes that are yet to be discovered. Inheritance of dRTA follows autosomal-dominant and -recessive patterns. Acquired forms of dRTA are caused by various types of autoimmune diseases or adverse effects of some drugs. Incomplete dRTA is frequently found in patients with and without kidney stone disease. These patients fail to appropriately acidify their urine when challenged, suggesting that incomplete dRTA may represent an intermediate state in the spectrum of the ability to excrete acids. Unrecognized or insufficiently treated dRTA can cause rickets and failure to thrive in children, osteomalacia in adults, nephrolithiasis and nephrocalcinosis. Electrolyte disorders are also often present and poorly controlled dRTA can increase the risk of developing chronic kidney disease.
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