Skip to main content

Advertisement

Log in

Osteopetrosis and renal tubular acidosis: Answers

  • Clinical Quiz
  • Published:
Pediatric Nephrology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1

References

  1. McMahon C, Will A, Hu P, Shah GN, Sly WS, Smith OP (2001) Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome. Blood 97:1947–1950

    Article  CAS  PubMed  Google Scholar 

  2. Awad M, Al-Ashwal AA, Sakati N, Al-Abbad AA, Bin-Abbas BS (2002) Long-term follow up of carbonic anhydrase II deficiency syndrome. Saudi Med J 23:25–29

    PubMed  Google Scholar 

  3. Sly WS, Hewett-Emmett D, Whyte MP, Yu Y-SL, Tashian RE (1983) Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteoporosis with renal tubular acidosis and cerebral calcification. Proc Natl Acad Sci U S A 80:2752–2756

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Guibaud P, Larbre F, Freycon MT, Genoud J (1972) Ostéopétrose et acidose rénale tubulaire. Deux cas de cette association dans une fratrie [Osteopetrosis and renal tubular acidosis. 2 cases of this association in a sibship]. Arch Fr Pediatr 29:269–286

    CAS  PubMed  Google Scholar 

  5. Vainsel M, Fondu P, Cadranel S, Rocmans C, Gepts W (1972) Osteopetrosis associated with proximal and distal tubular acidosis. Acta Paediatr Scand 61:429–434

    Article  CAS  PubMed  Google Scholar 

  6. Sly WS, Lang R, Avioli L, Haddad J, Lubowitz H, McAllister W (1972) Recessive osteopetrosis: new clinical phenotype. Am J Hum Genet 24 (Suppl):34a

  7. Fathallah DM, Bejaoui M, Lepaslier D, Chater K, Sly WS, Dellagi K (1997) Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus. Hum Genet 99:634–637

    Article  CAS  PubMed  Google Scholar 

  8. Dobyan DC, Bulger RE (1982) Renal carbonic anhydrase. Am J Phys 243:F311–F324

    CAS  Google Scholar 

  9. Whyte MP (1993) Carbonic anhydrase II deficiency. Clin Orthop Relat Res 294:52–63

    Article  Google Scholar 

  10. Venta PJ, Welty RJ, Johnson TM, Sly WS, Tashian RE (1991) Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene. Am J Hum Genet 49:1082–1090

    CAS  PubMed  PubMed Central  Google Scholar 

  11. Pang Q, Qi X, Jiang Y, Wang O, Li M, Xing X, Dong J, Xia W (2015) Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two unrelated Chinese families. Metab Brain Dis 30:989–997

    Article  CAS  PubMed  Google Scholar 

  12. Nagai R, Kooh SW, Balfe JW, Fenton T, Halperin ML (1997) Renal tubular acidosis and osteopetrosis with carbonic anhydrase II deficiency: pathogenesis of impaired acidification. Pediatr Nephrol 11:633–636

    Article  CAS  PubMed  Google Scholar 

  13. Hu PY, Lim EJ, Ciccolella J, Strisciuglio P, Sly WS (1997) Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis. Hum Mutat 9:383–387

    Article  CAS  PubMed  Google Scholar 

  14. Shah GN, Bonapace G, Hu PY, Strisciuglio P, Sly WS (2004) Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype phenotype correlation. Hum Mutat 24:272

    Article  PubMed  Google Scholar 

  15. Hu PY, Roth DE, Skaggs LA, Venta PJ, Tashian RE, Guibaud P, SlyWS (1992) A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries. Hum Mutat 1:288–292

    Article  CAS  PubMed  Google Scholar 

  16. Singh SK, Unnikrishnan AG, Agrawal NK, Kapoor D, Sahoo AK, Reddy DV, Kumar R (2003) A child with growth failure. Postgrad Med J 932:357–358

    Article  Google Scholar 

  17. Prabhu S, Jacob JJ, Thomas N (2007) Medical image. Dense bones and brain stones. Carbonic anhydrase-II (CA-II) deficiency. NZ Med J 120:U2731

  18. Nampoothiri S, Anikster Y (2009) Carbonic anhydrase II deficiency a novel mutation. Indian Pediatr 46:532–534

    PubMed  Google Scholar 

  19. Shivaprasad C, Paliwal P, Khadgawat R, Sharma A (2010) Identification of a novel mutation in an Indian patient with CAII deficiency syndrome. J Postgrad Med 56:290–292

    Article  CAS  PubMed  Google Scholar 

  20. Laway BA, Mubarik I (2017) Renal tubular acidosis, osteopetrosis, and cerebral calcification: a rare syndrome caused by carbonic anhydrase II Deficiency. Indian J Nephrol 27:330–331

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  21. Satapathy AK, Pandey S, Chaudhary MR, Bagga A, Kabra M, Uwe K, Gupta N (2019) Report of another mutation provencase of carbonic anhydrase II deficiency. J Pediatr Genet 8:91–94

    Article  CAS  PubMed  Google Scholar 

  22. Frattini A, Pangrazio A, Susani L, Sobacchi C, Mirolo M, Abinun M, Andolina M, Flanagan A, Horwitz EM, Mihci E, Notarangelo LD, Ramenghi U, Teti A, Van Hove J, Vujic D, Young T, Albertini A, Orchard PJ, Vezzoni P, Villa A (2003) Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. J Bone Miner Res 18:1740–1747

    Article  CAS  PubMed  Google Scholar 

  23. Cotter M, Connell T, Colhoun E, Smith OP, McMahon C (2005) Carbonic anhydrase II deficiency: a rare autosomal recessive disorder of osteopetrosis, renal tubular acidosis, and cerebral calcification. J Pediatr Hematol Oncol 27:115–117

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Contributions

AS and JR collected the data and AS conceptualized the idea and drafted the manuscript, AS and AA helped in case management and did the literature review, and RP and OPM critically revised the manuscript.

Corresponding author

Correspondence to Ankur Singh.

Ethics declarations

Conflict of interest

The authors declare no competing interests.

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

This refers to the article that can be found at https://doi.org/10.1007/s00467-021-05159-9.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Singh, A., Rajawat, J., Singh, A. et al. Osteopetrosis and renal tubular acidosis: Answers. Pediatr Nephrol 36, 4055–4059 (2021). https://doi.org/10.1007/s00467-021-05185-7

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00467-021-05185-7

Keywords

Navigation