Skip to main content
SpringerLink
Log in

Open quiz-solution: Case report 668

  • Case Reports
  • Published:
Skeletal Radiology Aims and scope Submit manuscript

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

Access this article

Log in via an institution

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

Instant access to the full article PDF.

Institutional subscriptions

References

  1. Anderson RE, Jee WSS, Woodbury DM (1985) Stimulation of carbonic anhydrase in osteoclasts by parathyroid hormone. Calcif Tissue Int 37:646

    Google Scholar 

  2. Baron R, Neff L, Louvard D, Courtoy PJ (1985) Cell-mediated extracellular acidification and bone resorption: evidence for a low pH in resorbing lacunae and localization of a 100-kD lysosomal membrane protein at the osteoclast ruffled border. J Cell Biol 101:2210

    Google Scholar 

  3. Brion LP, Schwartz JH, Zavilowitz BJ, Schwartz GJ (1988) Micro-method for the measurement of carbonic anhydrase activity in cellular homogenates. Anal Biochem 175:289

    Google Scholar 

  4. Coccia PF, Krivit W, Cervenka J, Clawson C, Kersey JH, Kim TH, Nesbit ME, Ramsay NK, Warkentin PI, Teitelbaum SL, Kahn AJ, Brown DM (1980) Successful bone-marrow transplantation for infantile malignant osteopetrosis. N Engl J Med 302:701

    Google Scholar 

  5. Cochat P, Loras-Duclaux I, Guibaud P (1987) Déficit en anhydrase carbonique II: osteopétrose, acidose rénale tubulaire et calcifications intracrâniennes. Revue de la littérature à partir de trois observations. Pédiatrie 42:121

    Google Scholar 

  6. Conroy CW, Maren TH (1985) The determination of osteopetrotic phenotypes by selective inactivation of red cell carbonic anhydrase isoenzymes. Clin Chim Acta 152:347

    Google Scholar 

  7. Gay CV, Mueller WJ (1974) Carbonic anhydrase and osteoclasts: localization by labeled inhibitor autoradiogaphy. Science 183:432

    Google Scholar 

  8. Guibaud P, Larbre F, Freycon MT, Genoud J (1972) Ostéopétrose et acidose rénale tubulaire. Deux cas de cette association dans une fratrie. Arch Fr Pediatr 29:269

    Google Scholar 

  9. Hall GE, Kenny AD (1986) Bone resorption induced by parathyroid hormone and dibutyryl cylic AMP: role of carbonic anhydrase. J Pharm Exp Ther 238:778

    Google Scholar 

  10. Kumpulainen T (1984) Immunohistochemical localization of human carbonic anhydrase isozymes. Ann NY Acad Sci 429:359

    Google Scholar 

  11. Maren TH, Couto EO (1979) The nature of anion inhibition of human red cell carbonic anhydrases. Arch Biochem Biophys 196:501

    Google Scholar 

  12. Minkin C, Jennings JM (1972) Carbonic anhydrase and bone remodeling: sulfonamide inhibition of bone resorption in organ culture. Science 176:1031

    Google Scholar 

  13. Ohlsson A, Cumming WA, Paul A, Sly WS (1986) Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification. Pediatrics 77:371

    Google Scholar 

  14. Sebastian A, Morris RC Jr (1977) Renal tubular acidosis. Clin Nephrol 7:216

    Google Scholar 

  15. Sly WS (1989) The carbonic anhydrase II deficiency syndrome: osteopetrosis with renal tubular acidosis and cerebral calcification. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease. McGraw-Hill, New York, p 2857

    Google Scholar 

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

    Google Scholar 

  17. Sly WS, Whyte MP, Sundaram V, Tashian RE, Hewett-Emmett D, Guibaud P, Vainsel M, Baluarte HJ, Gruskin A, Al-Mosawi M, Sakati N, Ohlsson A (1985) Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. N Engl J Med 313:139

    Google Scholar 

  18. Striciuglo P, Sartorio R, Pecoraro C, Lotito F, Sly WS (1990) Variable clinical presentation of carbonic anhydrase deficiency: evidence for heterogeneity? Eur J Pediatr 149:337

    Google Scholar 

  19. Sundaram V, Rumbolo P, Grubb J, Strisciuglio P, Sly WS (1986) Carbonic anhydrase II deficiency: diagnosis and carrier detection using differential enzyme inhibition and inactivation. Am J Hum Genet 38:125

    Google Scholar 

  20. Teitelbaum SL, Bullough PG (1979) The pathophysiology of bone and joint disease. Am J Pathol 96:283

    Google Scholar 

  21. Vaananen HK, Parvinen EK (1983) Highly active isoenzyme of carbonic anhydrase in rat calvaria osteoclasts. Immunohistochemical study. Histochemistry 78:481

    Google Scholar 

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

    Google Scholar 

  23. Venta RJ, Shows TB, Curtis PJ, Tashian RE (1983) Polymorphic gene for human carbonic anhydrase II: a molecular disease marker located on chromosome 8. Proc Natl Acad Sci USA 80:4437

    Google Scholar 

  24. Waite LC (1972) Carbonic anhydrase inhibitors, parathyroid hormone and calcium metabolism. Endocrinology 91:1160

    Google Scholar 

  25. Whyte MP, Hamm LL III, Sly WS (1988) Transfusion of carbonic anhydrase-replete erythrocytes fails to correct the acidification defect in the syndrome of osteopetrosis, renal tubular acidosis, and cerebral calcification (carbonic anhydrase II deficiency). J Bone Min Res 3:385

    Google Scholar 

  26. Whyte MP, Murphy WA, Fallon MD, Sly WS, Teitelbaum SL, McAlister WH, Avioli LV (1980) Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters. Am J Med 69:64

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Departments of Pediatrics, Montefiore Medical Center and Albert Einstein College of Medicine, Bronx, New York, USA

    George J. Schwartz M.D., Luc P. Brion M.D. & Howard E. Corey M.D.

  2. Departments of Orthopaedic Surgery (Orthopaedic Pathology), Montefiore Medical Center and Albert Einstein College of Medicine, Bronx, New York, USA

    Howard D. Dorfman M.D.

Authors
  1. George J. Schwartz M.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Luc P. Brion M.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Howard E. Corey M.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Howard D. Dorfman M.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

Additional information

These studies were supported in part by National Institutes of Health grant HD13232 and by a Grant-in-Aid from the New York Heart Association

Rights and permissions

Reprints and permissions

About this article

Cite this article

Schwartz, G.J., Brion, L.P., Corey, H.E. et al. Open quiz-solution: Case report 668. Skeletal Radiol. 20, 447–452 (1991). https://doi.org/10.1007/BF00191090

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00191090

Keywords

Search

Navigation