A novel SLC4A1 mutation in a child with hereditary spherocytosis and distal renal tubular acidosis
Corresponding Author
Pieri Giovanni Raimondo
Pediatric and Pediatric Emergency Unit, Children Hospital, Alessandria, Italy
Correspondence
Pieri Giovanni Raimondo, Pediatric and Pediatric Emergency Unit, Children Hospital, AO SS Antonio e Biagio e C. Arrigo, Alessandria, Italy.
Email: [email protected], [email protected]
Search for more papers by this authorPossenti Ilaria
Pediatric and Pediatric Emergency Unit, Children Hospital, Alessandria, Italy
Search for more papers by this authorSecco Andrea
Pediatric and Pediatric Emergency Unit, Children Hospital, Alessandria, Italy
Search for more papers by this authorPaglialonga Fabio
Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione Ca' Grande IRRCS Ospedale Maggiore Policlinico, Milan, Italy
Search for more papers by this authorMina Tommaso
Pediatric Hematology/Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
Search for more papers by this authorZecca Marco
Pediatric Hematology/Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
Search for more papers by this authorFelici Enrico
Pediatric and Pediatric Emergency Unit, Children Hospital, Alessandria, Italy
Search for more papers by this authorCorresponding Author
Pieri Giovanni Raimondo
Pediatric and Pediatric Emergency Unit, Children Hospital, Alessandria, Italy
Correspondence
Pieri Giovanni Raimondo, Pediatric and Pediatric Emergency Unit, Children Hospital, AO SS Antonio e Biagio e C. Arrigo, Alessandria, Italy.
Email: [email protected], [email protected]
Search for more papers by this authorPossenti Ilaria
Pediatric and Pediatric Emergency Unit, Children Hospital, Alessandria, Italy
Search for more papers by this authorSecco Andrea
Pediatric and Pediatric Emergency Unit, Children Hospital, Alessandria, Italy
Search for more papers by this authorPaglialonga Fabio
Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione Ca' Grande IRRCS Ospedale Maggiore Policlinico, Milan, Italy
Search for more papers by this authorMina Tommaso
Pediatric Hematology/Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
Search for more papers by this authorZecca Marco
Pediatric Hematology/Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
Search for more papers by this authorFelici Enrico
Pediatric and Pediatric Emergency Unit, Children Hospital, Alessandria, Italy
Search for more papers by this author
REFERENCES
- 1Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet. 2008; 372: 1411-1426.
- 2Sinha R, Agarwal I, Bawazir WM, Bruce LJ. Distal renal tubular acidosis with hereditary spherocytosis. Indian Pediatr. 2013; 50(7): 693-695.
- 3Gómez J, Gil-Peña H, Santos F, et al. Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing. Pediatr Res. 2016; 79(3): 496-501.
- 4Santos F, Ordóñez FA, Claramunt-Taberner D, Gil-Peña H. Clinical and laboratory approaches in the diagnosis of renal tubular acidosis. Pediatr Nephrol. 2015; 30(12): 2099-3007.
- 5Park E, Phaymany V, Yi ES, Phangmanixay S, Cheong HI, Choi Y. Primary autosomal recessive distal renal tubular acidosis caused by a common homozygous SLC4A1 mutation in two Lao families. J Korean Med Sci. 2018; 33(13):e95.
- 6Fry Andrew C, Karet Fiona E. Inherited Renal Acidoses. Physiology. 2007; 22:(3): 202-211. https://doi.org/10.1152/physiol.00044.2006
- 7Alper SL. Familial renal tubular acidosis. J Nephrol. 2010; 23(Suppl 16): S57-S76.
- 8Rodriguez SJ. Renal tubular acidosis: the clinical entity. J Am Soc Nephrol. 2002; 13: 2160-2170.
- 9He BJ, Liao L, Deng ZF, Tao YF, Xu YC, Lin FQ. Molecular genetic mechanisms of hereditary spherocytosis: current perspectives. Acta Haematol. 2018; 139(1): 60-66.
- 10Wagner S, Vogel R, Lietzke R, Koob R, Drenckhahn D. Immunochemical characterization of a band 3-like anion exchanger in collecting duct of human kidney. Am J Physiol. 1987; 253: F213-F221.
- 11Bruce Lesley J, Tanner Michael JA. Erythroid band 3 variants and disease. Best Practice & Research Clinical Haematology. 1999; 12(4): 637-654. https://doi.org/10.1053/beha.1999.0046
- 12Stewart AK, Kurschat CE, Alper SL. The SLC4 anion exchanger gene family. In: RJ Alpern, S Hebert, eds. Selden and Giebisch's “The Kidney, Physiology and Patholophysiology”, 4th ed. Elsevier Academic Press; 2008: 1499-1537.
10.1016/B978-012088488-9.50056-5 Google Scholar
- 13Delaunay J. Red cell membrane and erythropoiesis genetic defects. Hematol J. 2003; 4(4): 225-232.
- 14Schofield AE, Martin PG, Spillett D, Tanner MJ. The structure of the human red blood cell anion exchanger (EPB3, AE1, band 3) gene. Blood. 1994; 84: 2000-2012.
- 15Watanabe T. Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead. Pediatr Health Med Ther. 2018; 9: 181-190.
- 16More TA, Kedar PS. Genotypic analysis of SLC4A1 A858D mutation in Indian population associated with distal renal tubular Acidosis (dRTA) coupled with hemolytic anemia. Gene. 2021; 769:145241.
- 17Bertocchio JP, Genetet S, Da Costa L, et al. Red blood cell E1/band 3 transports in dominant distal renal tubular acidosis patients. Kidney Int Rep. 2020; 5(3): 348-357.
- 18Reithmeier RA, Casey JR, Kalli AC, Sansom MS, Alguel Y, Iwata S. Band 3, the human red cell chloride/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context. Biochim Biophys Acta. 2016; 1858(7 Pt A): 1507-1532.
- 19Ribeiro ML, Alloisio N, Almeida H, et al. Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3. Blood. 2000; 96(4): 1602-1604.
- 20Shmukler BE, Kedar PS, Warang P, et al. Hemolytic anemia and distal renal tubular acidosis in two Indian patients homozygous for SLC4A1/AE1 mutation A858D. Am J Hematol. 2010; 85(10): 824-828.
- 21Chang YH, Shaw CF, Jian SH, Hsieh KH, Chiou YH, Lu PJ. Compound mutations in human anion exchanger 1 are associated with complete distal renal tubular acidosis and hereditary spherocytosis. Kidney Int. 2009; 76(7): 774-783.
- 22Perrotta S, Nigro V, Iolascon A, et al. Dominant hereditary spherocytosis due to band 3 Neapolis produces a life-threatening anemia at the homozygous state (abstract). Blood. 1998; 92: 9a.
- 23Fawaz NA, Beshlawi IO, Al Zadjali S, et al. dRTA and hemolytic anemia: first detailed description of SLC4A1 A858D mutation in homozygous state. Eur J Haematol. 2012; 88: 350-355.
- 24Chu C, Woods N, Sawasdee N, et al. Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis. Biochem J. 2010; 426(3): 379-388.
- 25Khositseth S, Bruce LJ, Walsh SB, Bawazir WM, Ogle G, Unwin RJ, Thong M-K, Sinha R, Choo KE, Chartapisak W, Kingwatanakul P, Sumboonnanonda A, Vasuvattakul S, Yenchitsomanus P, Wrong O. Tropical distal renal tubular acidosis: clinical and epidemiological studies in 78 patients. QJM. 2012; 105(9): 861-877. https://doi.org/10.1093/qjmed/hcs139
- 26Bergwitz C, Miyamoto K. Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy. Eur J Physiol. 2019; 471(1): 149-163.