Renal tubular acidosis - underrated problem?

• Autorzy: Golembiewska E. , Ciechanowski K.
• Języki publikacji: EN

Abstrakty

EN

 Renal tubular acidosis (RTA) is a hyperchloremic metabolic acidosis characterized by a normal anion gap and normal (or near normal) glomerular filtration rate in the absence of diarrhoea. Inherited isolated forms of renal tubular acidosis are not common. However, they can also be a part of a more generalized tubule defect, like in Fanconi syndrome. In recent years more and more gene mutations have been found which are associated with RTA (mutations in the gene SLC4A4 encoding a Na+-HCO3- cotransporter (NBC-1); in the gene SLC4A1, encoding Cl-/HCO3- exchanger (AE1); in the gene ATP6B1, encoding B1 subunit of H+-ATPase; in the gene CA2 encoding carbonic anhydrase II; and others) and allow better understanding of underlying processes of bicarbonate and H+ transport. Isolated renal tubular acidosis can be frequently acquired due to use of certain drug groups, autoimmune disease or kidney transplantation. As the prevalence of acquired forms of RTA is common, new therapeutic options for the currently used supplementation of oral alkali, are awaited.

• Wydawca: -
• Czasopismo: Acta Biochimica Polonica
• Rocznik: 2012
• Tom: 59
• Numer: 2
• Opis fizyczny: p.213-217,fig.,ref.

Twórcy

autor

Golembiewska E.

• Department of Nephrology, Transplantology and Internal Medicine, Pomeranian Medical University, Szczecin, Poland

autor

Ciechanowski K.

Bibliografia

• Alper SL (2002) Genetic diseases of acid-base transporters. Annu Rev Physiol 64: 899-923. 
• Ambuhl PM (2007) Posttransplant metabolic acidosis: a neglected factor in renal transplantation? Curr Opin Nephrol Hypertens 16: 379-387. 
• Borthwick KJ, Karet FE (2002) Inherited disorders of the H+-ATPase. Curr Opin Nephrol Hypertens 11: 563-568. 
• Demigne C, Sabboh H, Puel C, Remesy C, Coxam V (2004) Organic anions and potassium salts in nutrition and metabolism. Nutr Res Rev 17: 249-258. 
• Dinour D, Chang MH, Satoh J, Smith BL, Angle N, Knecht A, Serban I, Holtzman EJ, Romero MF (2004) A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects. J Biol Chem 279: 52238-52246. 
• Fry AC, Karet FE (2007) Inherited renal acidoses. Physiology 22: 202-211. 
• Igarashi T, Sekine T, Inatomi J, Seki G (2002) Unraveling the molecular pathogenesis of isolated proximal renal tubular acidosis. J Am Soc Nephrol 13: 2171-2177. 
• Gross P, Meye C (2008) Proximal RTA: are all the charts completed yet? Nephrol Dial Transplant 23: 1101-1102. 
• Hanukoglu A (1991) Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects. J Clin Endocrinol Metab 73: 936-944. 
• Heering P, Degenhardt S, Grabensee B (1996) Tubular dysfunction following kidney transplantation. Nephron 74: 501-511. 
• Karet F (2002) Inherited distal renal tubular acidosis. J Am Soc Nephrol 13: 2178-2184. 
• Katzir Z, Dinour D, Reznik-Wolf H, Nissenkorn A, Holtzman E (2008) Familial pure proximal renal tubular acidosis - a clinical and genetic study. Nephrol Dial Transplant 23: 1211-1215. 
• Laing CM, Toye AM, Capasso G, Unwin RJ (2005) Renal tubular acidosis: developments in our understanding of the molecular basis. Int J Biochem Cell Biol 37: 1151-1161. 
• Malik SI, Naqvi R, Ahmed E, Zafar MN (2011) Prevalence and risk factors of renal tubular acidosis after kidney transplantation. J Pak Med Assoc 61: 23-27. 
• Mirza N, Marson AG, Pirmohamed M (2009) Effect of topiramate on acid-base balance: extent, mechanism and effects. Br J Clin Pharmacol 68: 655-661. 
• Pereira PCB, Miranda DM, Oliveira EA, Simoes e Silva AC (2009) Molecular pathophysiology of renal tubular acidosis. Current Genomics 10: 51-59. 
• Ring T, Frische S, Nielsen S (2005) Clinical review: renal tubular acidosis - a physicochemical approach. Crit Care 9: 573-580. 
• Schwarz C, Benesch T, Kodras K, Oberbauer R, Haas M (2006) Complete renal tubular acidosis late after kidney transplantation. Nephrol Dial Transplant 21: 2615-2620. 
• Smith AN, Skaug J, Choate KA, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Lifton RP, Scherer SW, Karet FE (2000) Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat Genet 26: 71-75. 
• Soriano JR (2002) Renal tubular acidosis: the clinical entity. J Am Soc Nephrol 13: 2160-2170. 
• Unwin RJ, Capasso G (2001) The renal tubular acidoses. J R Soc Med 94: 221-225. 
• Warth R, Barriere H, Meneton P, Bloch M, Thomas J, Tauc M, Heitzmann D, Romeo E, Verrey F, Mengual R, Guy N, Bendahhou S, Lesage F, Poujeol P, Barhanin J (2004) Proximal renal tubular acidosis in TASK-2 K+channel-deficient mice reveals a mechanism for stabilizing bicarbonate transport. Proc Natl Acad Sci USA 101: 8215-8220. 
• Watanabe S et al. (2005) Cyclosporin A produces distal renal tubular acidosis by blocking peptidyl prolyl cis-trans isomerase activity of cyclophilin. Am J Physiol Renal Physiol 288: F40-F47. 
• Wilson FH, Disse-Nicodeme S, Choate KA, Ishikawa K, Nelson-Williams C, Desitter I, Gunel M, Milford DV, Lipkin GW, Achard JM, Feely MP, Dussol B, Berland Y, Unwin RJ, Mayan H, Simon DB, Farfel Z, Jeunemaitre X, Lifton RP (2001) Human hypertension caused by mutations in WNK kinases. Science 293: 1107-1112.

Uwagi

PL

Rekord w opracowaniu.