Abstract
Hypophosphatasia is a rare inherited metabolic disease characterised by reduced plasma and tissue alkaline phosphatase activity, and may present in infancy, childhood or adulthood. The differing modes of inheritance, presentation and natural history are likely to reflect variable expression of the alkaline phosphatase gene defect. A case of infantile hypophophatasia presenting with hypercalcaemia is described and the histological and radiological resolution of the mineralisation defect present initially are reported.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Brenton D. P., Krywawych S. Hypophosphatasia. Clin Rheum Dis. 1986 Dec;12(3):771–789. [PubMed] [Google Scholar]
- Caswell A. M., Whyte M. P., Russell R. G. Hypophosphatasia and the extracellular metabolism of inorganic pyrophosphate: clinical and laboratory aspects. Crit Rev Clin Lab Sci. 1991;28(3):175–232. doi: 10.3109/10408369109106862. [DOI] [PubMed] [Google Scholar]
- Jung A., Russel R. G., Bisaz S., Morgan D. B., Fleisch H. Fate of intravenously injected pyrophosphate-32P in dogs. Am J Physiol. 1970 Jun;218(6):1757–1764. doi: 10.1152/ajplegacy.1970.218.6.1757. [DOI] [PubMed] [Google Scholar]
- Opshaug O., Maurseth K., Howlid H., Aksnes L., Aarskog D. Vitamin D metabolism in hypophosphatasia. Acta Paediatr Scand. 1982 May;71(3):517–521. doi: 10.1111/j.1651-2227.1982.tb09466.x. [DOI] [PubMed] [Google Scholar]
- Whyte M. P., McAlister W. H., Patton L. S., Magill H. L., Fallon M. D., Lorentz W. B., Jr, Herrod H. G. Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: results in three additional patients. J Pediatr. 1984 Dec;105(6):926–933. doi: 10.1016/s0022-3476(84)80079-7. [DOI] [PubMed] [Google Scholar]
- Wolfish N. M., Heick H. Hyperparathyroidism and infantile hypophosphatasia: effect of prednisone and vitamin K therapy. J Pediatr. 1979 Dec;95(6):1079–1081. doi: 10.1016/s0022-3476(79)80317-0. [DOI] [PubMed] [Google Scholar]