Palazzo V, Provenzano A, Becherucci F, Sansavini G, Mazzinghi B, Orlandini V, et al. The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis. Kidney Int. 2017;91:1243–55.
Article CAS PubMed Google Scholar
Batlle D, Haque SK. Genetic causes and mechanisms of distal renal tubular acidosis. Nephrol Dial Transplant. 2012;27:3691–704.
Article CAS PubMed Google Scholar
Rodríguez SJ. Renal tubular acidosis: the clinical entity. J Am Soc Nephrol. 2002;13:2160–70.
Palmer BF, Kelepouris E, Clegg DJ. Renal tubular acidosis and management strategies: a narrative review. Adv Ther. 2021;38:949–68.
Article CAS PubMed Google Scholar
Kainer G, Chan JCM. Renal tubular acidosis: diagnostic work-up, treatment and mechanisms of growth retardation. Indian J Pediatr. 1988;55:552–8.
Article CAS PubMed Google Scholar
Harrington TM, Bunch TW, Van den Berg CJ. Renal tubular acidosis. A new look at treatment of musculoskeletal and renal disease. Mayo Clin Proc. 1983;58:354–60.
Wagner CA, Unwin R, Lopez-Garcia SC, Kleta R, Bockenhauer D, Walsh S. The pathophysiology of distal renal tubular acidosis. Nat Rev Nephrol. 2023;19:384–400.
Article CAS PubMed Google Scholar
Alonso-Varela M, Gil-Peña H, Coto E, Gómez J, Rodríguez J, Rodríguez-Rubio E, et al. Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations. Pediatr Nephrol. 2018;33:1523–9.
Gómez-Conde S, García-Castaño A, Aguirre M, Herrero M, Gondra L, García-Pérez N, et al. Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis. Pediatr Nephrol. 2021;36:3133–42.
Lopez-Garcia S, Emma F, Walsh S, Fila M, Hooman N, Zaniew M, et al. Treatment and long-term outcome in primary distal renal tubular acidosis. Nephrol Dial Transplant. 2019;34:981–91.
Article CAS PubMed Google Scholar
Enerbäck S, Nilsson D, Edwards N, Heglind M, Alkanderi S, Ashton E, et al. Acidosis and deafness in patients with recessive mutations in FOXI1. J Am Soc Nephrol. 2018;29:1041–8.
Katsura K, Nakano Y, Zhang Y, Shemirani R, Li W, Den Besten P. WDR72 regulates vesicle trafficking in ameloblasts. Sci Rep. 2022;12:2820.
Article CAS PubMed PubMed Central Google Scholar
Jennings ML. Cell physiology and molecular mechanism of anion transport by erythrocyte band 3/AE1. Am J Physiol Cell Physiol. 2021;321:C1028–59.
Article CAS PubMed PubMed Central Google Scholar
Bruce LJ, Cope DL, Jones GK, Schofield AE, Burley M, Povey S, et al. Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. J Clin Invest. 1997;100:1693–707.
Article CAS PubMed PubMed Central Google Scholar
Trepiccione F, Walsh SB, Ariceta G, Boyer O, Emma F, Camilla R, et al. Distal renal tubular acidosis: ERKNet/ESPN clinical practice points. Nephrol Dial Transplant. 2021;36:1585–96.
Article CAS PubMed Google Scholar
Hureaux M, Ashton E, Dahan K, Houillier P, Blanchard A, Cormier C, et al. High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults. Kidney Int. 2019;96:1408–16.
Article CAS PubMed Google Scholar
Wall SM, Verlander JW, Romero CA. The renal physiology of Pendrin-positive intercalated cells. Physiol Rev. 2020;100:1119–47.
Article CAS PubMed PubMed Central Google Scholar
Brennan S, Hering-Smith K, Hamm LL. Effect of pH on citrate reabsorption in the proximal convoluted tubule. Am J Physiol. 1988;255:F301-306.
Fry AC, Karet FE. Inherited renal acidoses. Physiology. 2007;22:202–11.
Article CAS PubMed Google Scholar
Evenepoel P, Daenen K, Bammens B, Claes K, Meijers B, Naesens M, et al. Microscopic nephrocalcinosis in chronic kidney disease patients. Nephrol Dial Transplant. 2015;30:843–8.
Article CAS PubMed Google Scholar
Smith AN, Skaug J, Choate KA, Nayir A, Bakkaloglu A, Ozen S, et al. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat Genet. 2000;26:71–5.
Article CAS PubMed Google Scholar
Karet FE, Finberg KE, Nelson RD, Nayir A, Mocan H, Sanjad SA, et al. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet. 1999;21:84–90.
Article CAS PubMed Google Scholar
Vargas-Poussou R, Houillier P, Le Pottier N, Strompf L, Loirat C, Baudouin V, et al. Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the: ATP6V0A4: gene. J Am Soc Nephrol. 2006;17:1437.
Article CAS PubMed Google Scholar
Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith RJH. Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). Am J Hum Genet. 2007;80:1055–63.
Article CAS PubMed PubMed Central Google Scholar
Zhang H, Koruyucu M, Seymen F, Kasimoglu Y, Kim J-W, Tinawi S, et al. WDR72 mutations associated with amelogenesis imperfecta and acidosis. J Dent Res. 2019;98:541–8.
Article CAS PubMed PubMed Central Google Scholar
Rungroj N, Nettuwakul C, Sawasdee N, Sangnual S, Deejai N, Misgar RA, et al. Distal renal tubular acidosis caused by tryptophan-aspartate repeat domain 72 (WDR72) mutations. Clin Genet. 2018;94:409–18.
Article CAS PubMed Google Scholar
Khandelwal P, Mahesh V null, Mathur VP, Raut S, Geetha TS, Nair S, et al. Phenotypic variability in distal acidification defects associated with WDR72 mutations. Pediatr Nephrol. 2021;36:881–7.
Vasuvattakul S, Yenchitsomanus PT, Vachuanichsanong P, Thuwajit P, Kaitwatcharachai C, Laosombat V, et al. Autosomal recessive distal renal tubular acidosis associated with Southeast Asian ovalocytosis. Kidney Int. 1999;56:1674–82.
Article CAS PubMed Google Scholar
Khositseth S, Bruce LJ, Walsh SB, Bawazir WM, Ogle GD, Unwin RJ, et al. Tropical distal renal tubular acidosis: clinical and epidemiological studies in 78 patients. QJM. 2012;105:861–77.
Article CAS PubMed Google Scholar
Mohebbi N, Wagner CA. Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis. J Nephrol. 2018;31:511–22.
Article CAS PubMed Google Scholar
Alonso-Varela M, Gil-Peña H, Santos F. Incomplete distal renal tubular acidosis in children. Acta Paediatr. 2020;109:2243–50.
Sharma AP, Sharma RK, Kapoor R, Kornecki A, Sural S, Filler G. Incomplete distal renal tubular acidosis affects growth in children. Nephrol Dial Transplant. 2007;22:2879–85.
Albright F, Burnett CH. Osteomalacia and late rickets; the various etiologies met in the United States with emphasis on that resulting from a specific form of renal acidosis, the therapeutic indications for each etiological sub-group, and the relationship between osteomalacia and Milkman’s syndrome. Medicine (Baltimore). 1946;25:399–479.
Article CAS PubMed Google Scholar
Domrongkitchaiporn S, Pongsakul C, Stitchantrakul W, Sirikulchayanonta V, Ongphiphadhanakul B, Radinahamed P, et al. Bone mineral density and histology in distal renal tubular acidosis. Kidney Int. 2001;59:1086–93.
Comments (0)