[1]邵怡,王安平,王先令,等.肾小管酸中毒的诊疗进展[J].国际内分泌代谢杂志,2017,37(01):56-58.[doi:10.3760/cma.j.issn.1673-4157.2017.01.16]
　Shao Yi,Wang Anping,Wang Xianling,et al.Research progress in diagnosis and treatment of renal tubular acidosis[J].International Journal of Endocrinology and Metabolism,2017,37(01):56-58.[doi:10.3760/cma.j.issn.1673-4157.2017.01.16]
点击复制

肾小管酸中毒的诊疗进展()
分享到：

《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
37
期数:
2017年01期
页码:
56-58
栏目:
综述
出版日期:
2017-01-20

文章信息/Info

Title:
Research progress in diagnosis and treatment of renal tubular acidosis
作者:
邵怡; 王安平; 王先令; 母义明
100853 北京,解放军总医院内分泌科
Author(s):
Shao Yi;  Wang Anping;  Wang Xianling;  Mu Yiming.
Department of Endocrinology, Chinese PLA General Hospital, Beijing 100853, China
关键词:
肾小管酸中毒;  干燥综合征;  尿结石
Keywords:
Renal tubular acidosis;  Sjogren's syndrome;  Urinary calculi
DOI:
10.3760/cma.j.issn.1673-4157.2017.01.16
摘要:
肾小管酸中毒(RTA)是一类由于近端肾小管HCO-3重吸收和(或)远端肾小管泌H+功能障碍引起的临床综合征。该疾病的致病谱广泛,常见病因包括自身免疫性疾病(如干燥综合征)、慢性肾脏疾病、药物中毒、遗传性疾病等。生化特点以代谢性酸中毒、反常性碱性尿为主。该疾病常累及多个系统和器官,因此其临床表现复杂多变,易发生骨软化症、尿结石、慢性肾功能不全等各种并发症,致残率高。明晰病因并施以针对性治疗,能够明显改善预后。
Abstract:
Renal tubular acidosis(RTA)is a clinical syndrome caused by dysfunction of proximal tubular HCO-3 resorption and/or distal renal tubular H+ secretion. A variety of diseases can induce this disorder, such as autoimmune disease(Sjogren's syndrome), chronic kidney diseases, drug poisoning, genetic diseases, etc. Biochemical examination shows metabolic acidosis and paradoxical alkaline urine. Since various systems or organs are always involved in this disease, the clinical manifestations are complex and diverse. It can lead to serious complications, such as osteomalacia, urinary calculi, renal failure, resulting in high risk of disability. With effective treatment to respective causes, the patients with RTA can get better prognosis.

参考文献/References:

[1] Zhang Z, Liu KX, He JW,et al. Identification of two novel mutations in the SLC4A1 gene in two unrelated Chinese families with distal renaltubular acidosis[J].Arch Med Res,2012,43(4):298-304. DOI: 10.1016/j.arcmed.2012.05.001.
[2] 高延霞,窦以河,隋爱华,等.常染色体隐性遗传性远端肾小管酸中毒患儿ATP6VOA4和ATP6V1B1基因突变分析[J].中华肾脏病杂志,2012,28(1):1-4.DOI:10.3760/cma.j.issn.1001-7097.2012.01.001.
[3] 黄文彦,孙蕾. 儿童先天/遗传性肾小管疾病诊断与治疗现状 [J]. 中华实用儿科临床杂志, 2015,30(17):1285-1288.DOI:10.3760/cma.j.issn.2095-428X.2015.17.002.
[4] Ito N,Ihara K, Kamoda T, et al.Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family[J].CEN Case Rep,2015,4(2):218-222.DOI:10.1007/s13730-015-0172-3.
[5] Elhayek D, Perez de Nanclares G, Chouchane S,et al. Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes[J].BMC Med Genet,2013,14:119. DOI: 10.1186/1471-2350-14-119.
[6] van den Wildenberg MJ, Hoorn EJ, Mohebbi N,et al. Distal renal tubular acidosis with multiorgan autoimmunity: a case report[J].Am J Kidney Dis,2015,65(4):607-610. DOI: 10.1053/j.ajkd.2014.09.026.
[7] Lee SSM,Quek TPL,Seow CJ,et al. Adefovir-induced Fanconi syndrome: diagnostic pearls and perils of late or missed diagnosis[J].CEN Case Rep, 2014, 3(2): 183-187. DOI:10.1007/s13730-014-0114-5.
[8] Polanco A,Abraham S,Castellanos R. Síndrome de Sjögren y acidosis tubular renal distal reversible: una mirada a sus manifestaciones renales[J]. Rev Colomb Reumatol, 2013,20(4):250-254.
[9] Both T, Zietse R, Hoorn EJ,et al. Everything you need to know about distal renal tubular acidosis in autoimmune disease[J].Rheumatol Int,2014,34(8):1037-1045. DOI: 10.1007/s00296-014-2993-3.
[10] 孙世澜.肾小管酸中毒的病理生理与临床意义[J].临床肾脏病杂志,2011,11(12):535-538.DOI:10.3969/j.issn. 1671-2390.2011.12.002.
[11] Kehar M, Bijarnia S, Ellard S,et al. Fanconi-Bickel syndrome-mutation in SLC2A2 gene[J]. Indian J Pediatr,2014,81(11):1237-1239.DOI: 10.1007/s12098-014-1487-3.
[12] Escobar L, Mejía N, Gil H, et al. Distal renal tubular acidosis: a hereditary disease with an inadequate urinary H+ excretion[J].Nefrologia,2013,33(3):289-296. DOI: 10.3265/Nefrologia.pre2012.Oct.11592.
[13] Hamnvik OP, Vaidya A, Becker C. Interactive medical case: wasting away[J].N Engl J Med,2014,370(7):e12. DOI: 10.1056/NEJMimc1306170.
[14] Santos F, Ordón＾ez FA, Claramunt-Taberner D, et al. Clinical and laboratory approaches in the diagnosis of renal tubular acidosis[J].Pediatr Nephrol,2015,30(12):2099-2107. DOI: 10.1007/s00467-015-3083-9.
[15] 武加标,施冶青,赵东宝. 肾小管酸中毒伴骨软化继发于干燥综合征 1 例并文献分析[J].中国骨质疏松杂志, 2015,21(12):1487-1497. DOI:10.3969/j.issn.1006-7108.2015.12.015.
[16] 贾捷婷,李小峰,王彩虹,等.甲氨蝶呤联合间歇小剂量环磷酰胺治疗原发性干燥综合征合并肾小管性酸中毒15例随访研究[J].中华风湿病学杂志,2009,13(7):501-502.DOI:10. 3760/cma.j.issn.1007-7480.2009.07.022.
[17] Chen YM, Hsieh TY, Chen DY,et al. Bilateral nephrocalcinosis, distal renal tubular acidosis and interstitial nephritis in primary Sjögren's syndrome[J].Joint Bone Spine,2014,81(6):542.DOI: 10.1016/j.jbspin.2014.04.006.
[18] Jehle S, Hulter HN, Krapf R. Effect of potassium citrate on bone density, microarchitecture, and fracture risk in healthy older adultswithout osteoporosis: a randomized controlled trial[J].J Clin Endocrinol Metab,2013,98(1):207-217. DOI: 10.1210/jc.2012-3099.
[19] Zhang C, Ren H, Shen P, et al. Clinical evaluation of Chinese patients with primary distal renal tubular acidosis[J].Intern Med,2015,54(7):725-730. DOI: 10.2169/internalmedicine.54.9421.
[20] Chesney RW. Interactions of vitamin D and the proximal tubule[J].Pediatr Nephrol,2016,31(1):7-14.DOI:10.1007/s00467-015-3050-5.
[21] Basu G, Sudhakar G, Mohapatra A. Renal tubular acidosis[J].Clin Queries:Nephrol,2013,2(4):166-178.DOI:10.1016/j.cqn.2013.11.006.

备注/Memo

备注/Memo:
基金项目:国家自然科学基金资助项目(81471026) 通信作者:王先令,Email:wangxianling1972@sohu.com
更新日期/Last Update: 2017-01-20