Advertisement

A Novel Compound Heterozygous Mutation in SLC4A1 Gene Causing Severe Hereditary Spherocytosis and Distal Renal Tubular Acidosis

  • Xue Tang
  • Xia GuoEmail author
  • Ju GaoEmail author
Scientific Letter
  • 6 Downloads

Notes

Compliance with Ethical Standards

Conflict of Interest

None.

Source of Funding

 Scientific Research Project of Sichuan Provincial Health and Family Planning Commission (18PJ042).

References

  1. 1.
    Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet. 2008;372:1411–26.CrossRefGoogle Scholar
  2. 2.
    Watanabe T. Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead. Pediatric Health Med Ther. 2018;9:181–90.CrossRefGoogle Scholar
  3. 3.
    Ribeiro 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;96:1602–4.PubMedGoogle Scholar
  4. 4.
    Chang 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;76:774–83.CrossRefGoogle Scholar
  5. 5.
    Chu 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;426:379–88.CrossRefGoogle Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2020

Authors and Affiliations

  1. 1.Department of PediatricsWest China Second University HospitalChengduChina
  2. 2.Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of EducationSichuan UniversityChengduChina

Personalised recommendations