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This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by McMahon, C. Articles by Smith, O. P. Search for Related Content PubMed PubMed Citation Articles by McMahon, C. Articles by Smith, O. P. Related Collections Transplantation Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Blood, 1 April 2001, Vol. 97, No. 7, pp. 1947-1950 CLINICAL OBSERVATIONS, INTERVENTIONS, AND THERAPEUTIC TRIALS Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome Corrina McMahon, Andrew Will, Peiyi Hu, Gul N. Shah, William S. Sly, and Owen P. Smith From the Department of Paediatric Haematology, Tallaght Hospital, Dublin, Ireland; Department of Padiatric Haematology and Oncology, Manchester Children's Hospital, Manchester, United Kingdom; and St Louis University School of Medicine, St Louis, MO. Carbonic anhydrase II (CAII), found in renal tubules, brain, and osteoclasts, is critical in acid-base homeostasis and bone remodeling. Deficiency of CAII gives rise to a syndrome of osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification with associated developmental delay. It is inherited in an autosomal recessive fashion and found most frequently in the Mediterranean region and the Middle East. We report 2 related Irish families with clinically severe CAII deficiency in whom the gene mutation has been fully elucidated. Two children, one from each family, have undergone allogeneic bone marrow transplantation because of severe progressive visual and hearing loss. The older 2 children had already developed cerebral calcification and marked visual loss at the time of diagnosis and were treated symptomatically. Post-transplantation evaluation at 2 and 3 years demonstrates histologic and radiologic resolution of their osteopetrosis with stabilization of hearing and vision. Both children remain developmentally delayed and continue to have RTA, and the older child has now developed cerebral calcification. Allogeneic bone marrow stem cell replacement cures the osteoclast component of CAII deficiency and retards the development of cerebral calcification, but it appears to have little or no effect on the renal lesions. © 2001 by The American Society of Hematology.   CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: J. Tolar, S. L. Teitelbaum, and P. J. Orchard Osteopetrosis N. Engl. J. Med., December 30, 2004; 351(27): 2839 - 2849. [Full Text] [PDF] A child with growth failure Postgrad. Med. J., June 1, 2003; 79(932): 361 - 361. [Full Text] [PDF] K J Borthwick, N Kandemir, R Topaloglu, U Kornak, A Bakkaloglu, N Yordam, S Ozen, H Mocan, G N Shah, W S Sly, et al. A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis J. Med. Genet., February 1, 2003; 40(2): 115 - 121. [Abstract] [Full Text] [PDF] F. E. Karet Inherited Distal Renal Tubular Acidosis J. Am. Soc. Nephrol., August 1, 2002; 13(8): 2178 - 2184. [Full Text] [PDF]

	Copyright © 2001 by American Society of Hematology         Online ISSN: 1528-0020