ArticleCurrent genomics2009
Molecular pathophysiology of renal tubular acidosis.
Article in Current genomics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 73 citations in OpenAlex.
- Pembrolizumab-induced Acute Tubulointerstitial Nephritis Accompanying Fanconi Syndrome and Type 1 Renal Tubular Acidosis.Internal medicine (Tokyo, Japan) · 2024Article
- Molecular Aspects of Distal Kidney Tubular Acidosis in Children, Its Long-Term Outcome, and Relationship with Hyperammonemia.Turkish archives of pediatrics · 2022Article
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- Renal Tubular Acidosis Manifesting as Severe Metabolic Bone Disease.TouchREVIEWS in endocrinology · 2021Article
- Functional Imaging Using Fluorine (Methods in molecular biology (Clifton, N.J.) · 2021Article
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- Distal renal tubular acidosis: genetic causes and management.World journal of pediatrics : WJP · 2019Review
- The kidney anion exchanger 1 affects tight junction properties via claudin-4.Scientific reports · 2019Article
- Urinary proteome in inherited nephrolithiasis.Urolithiasis · 2019Review
- Prospective relation of adolescent citrate excretion and net acid excretion capacity with blood pressure in young adulthood.American journal of physiology. Renal physiology · 2018Article
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- Bilateral Proximal Femur Fractures in a Patient with Renal Tubular Acidosis: A Case Report.Malaysian orthopaedic journal · 2018Article
- Chronic Metabolic Acidosis Activates Renal Tubular Sodium Chloride Cotransporter through Angiotension II-dependent WNK4-SPAK Phosphorylation Pathway.Scientific reports · 2016Article
- Distal renal tubular acidosis in AIDS young woman with wasting syndrome.International urology and nephrology · 2014Article
- Pilot study of Iopamidol-based quantitative pH imaging on a clinical 3T MR scanner.Magma (New York, N.Y.) · 2014Article
- Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations.World journal of nephrology · 2013Article
- Sulfatides are required for renal adaptation to chronic metabolic acidosis.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- Fanconi-Bickel syndrome as an example of marked allelic heterogeneity.World journal of nephrology · 2012Article
- Typical Features of Amelogenesis Imperfecta in Two Patients with Bartter's Syndrome.Nephron extra · 2012Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Renal tubular acidosis (RTA) is characterized by metabolic acidosis due to renal impaired acid excretion. Hyperchloremic acidosis with normal anion gap and normal or minimally affected glomerular filtration rate defines this disorder. RTA can also present with hypokalemia, medullary nephrocalcinosis and nephrolitiasis, as well as growth retardation and rickets in children, or short stature and osteomalacia in adults. In the past decade, remarkable progress has been made in our understanding of the molecular pathogenesis of RTA and the fundamental molecular physiology of renal tubular transport processes. This review summarizes hereditary diseases caused by mutations in genes encoding transporter or channel proteins operating along the renal tubule. Review of the molecular basis of hereditary tubulopathies reveals various loss-of-function or gain-of-function mutations in genes encoding cotransporter, exchanger, or channel proteins, which are located in the luminal, basolateral, or endosomal membranes of the tubular cell or in paracellular tight junctions. These gene mutations result in a variety of functional defects in transporter/channel proteins, including decreased activity, impaired gating, defective trafficking, impaired endocytosis and degradation, or defective assembly of channel subunits. Further molecular studies of inherited tubular transport disorders may shed more light on the molecular pathophysiology of these diseases and may significantly improve our understanding of the mechanisms underlying renal salt homeostasis, urinary mineral excretion, and blood pressure regulation in health and disease. The identification of the molecular defects in inherited tubulopathies may provide a basis for future design of targeted therapeutic interventions and, possibly, strategies for gene therapy of these complex disorders.
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Registered trials
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