Golembiewska Edyta, Ciechanowski Kazimierz
Department of Nephrology, Transplantology and Internal Medicine, Pomeranian Medical University, Szczecin, Poland.
Acta Biochim Pol. 2012;59(2):213-7. Epub 2012 Jun 11.
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(+)-HCO(3)(-) 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.
肾小管酸中毒（RTA）是一种高氯性代谢性酸中毒，其特征为阴离子间隙正常，在无腹泻情况下肾小球滤过率正常（或接近正常）。遗传性孤立性肾小管酸中毒并不常见。然而，它们也可能是更广泛的肾小管缺陷的一部分，如范科尼综合征。近年来，已发现越来越多与RTA相关的基因突变（编码钠-碳酸氢根共转运体（NBC-1）的SLC4A4基因；编码氯/碳酸氢根交换体（AE1）的SLC4A1基因；编码H⁺-ATP酶B1亚基的ATP6B1基因；编码碳酸酐酶II的CA2基因等），这有助于更好地理解碳酸氢根和H⁺转运的潜在过程。孤立性肾小管酸中毒常因使用某些药物、自身免疫性疾病或肾移植而获得。由于获得性RTA的患病率较高，人们期待着针对目前口服碱补充疗法的新治疗选择。
