{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T16:49:27Z","timestamp":1761842967423},"reference-count":21,"publisher":"American Society of Hematology","issue":"7","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2001,4,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>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.<\/jats:p>","DOI":"10.1182\/blood.v97.7.1947","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T08:46:47Z","timestamp":1027759607000},"page":"1947-1950","update-policy":"http:\/\/dx.doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":59,"title":["Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome"],"prefix":"10.1182","volume":"97","author":[{"given":"Corrina","family":"McMahon","sequence":"first","affiliation":[{"name":"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."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew","family":"Will","sequence":"additional","affiliation":[{"name":"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."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peiyi","family":"Hu","sequence":"additional","affiliation":[{"name":"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."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gul N.","family":"Shah","sequence":"additional","affiliation":[{"name":"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."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William S.","family":"Sly","sequence":"additional","affiliation":[{"name":"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."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Owen P.","family":"Smith","sequence":"additional","affiliation":[{"name":"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."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"234","reference":[{"key":"2020021217101538700_B1","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1097\/00003086-199309000-00007","article-title":"Carbonic anhydrase II deficiency.","volume":"Sep","author":"Whyte","year":"1993","journal-title":"Clin Orthop."},{"key":"2020021217101538700_B2","first-page":"1082","article-title":"Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107His-Tyr): complete structure of the normal human CA II gene.","volume":"49","author":"Venta","year":"1991","journal-title":"Am J Hum Genet."},{"key":"2020021217101538700_B3","doi-asserted-by":"crossref","first-page":"2752","DOI":"10.1073\/pnas.80.9.2752","article-title":"Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.","volume":"80","author":"Sly","year":"1983","journal-title":"Proc Natl Acad Sci U S A."},{"key":"2020021217101538700_B4","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1007\/BF00211035","article-title":"A unique mutation underlying carbonic anhydrase II deficiency syndrome in patients of Arab descent.","volume":"94","author":"Fathallah","year":"1994","journal-title":"Hum Genet."},{"key":"2020021217101538700_B5","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1007\/BF02267062","article-title":"A point mutation in exon 3 (His 107*Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement.","volume":"97","author":"Soda","year":"1996","journal-title":"Hum Genet."},{"key":"2020021217101538700_B6","doi-asserted-by":"crossref","first-page":"1804","DOI":"10.1073\/pnas.89.5.1804","article-title":"Molecular basis of human carbonic anhydrase II deficiency.","volume":"89","author":"Roth","year":"1992","journal-title":"Proc Natl Acad Sci U S A."},{"key":"2020021217101538700_B7","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1002\/(SICI)1098-1004(1997)9:5<383::AID-HUMU1>3.0.CO;2-5","article-title":"Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis.","volume":"9","author":"Hu","year":"1997","journal-title":"Hum Mutat."},{"key":"2020021217101538700_B8","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1016\/S0022-3476(05)82004-9","article-title":"Bone marrow transplantation for autosomal recessive osteopetrosis: a report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group.","volume":"125 (pt 1)","author":"Gerritsen","year":"1994","journal-title":"J Pediatr."},{"key":"2020021217101538700_B9","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1097\/00043426-199511000-00013","article-title":"Bone marrow transplantation for infantile malignant osteopetrosis.","volume":"17","author":"Solh","year":"1995","journal-title":"J Pediatr Hematol Oncol."},{"key":"2020021217101538700_B10","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1136\/adc.80.3.273","article-title":"Importance of neurological assessment before bone marrow transplantation for osteopetrosis.","volume":"80","author":"Abinun","year":"1999","journal-title":"Arch Dis Child."},{"key":"2020021217101538700_B11","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1002\/jbmr.5650030404","article-title":"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).","volume":"3","author":"Whyte","year":"1988","journal-title":"J Bone Miner Res."},{"key":"2020021217101538700_B12","first-page":"125","article-title":"Carbonic anhydrase II deficiency: diagnosis and carrier detection using differential enzyme inhibition and inactivation.","volume":"38","author":"Sundaram","year":"1986","journal-title":"Am J Hum Genet."},{"key":"2020021217101538700_B13","doi-asserted-by":"crossref","first-page":"1780","DOI":"10.1182\/blood.V87.5.1780.1780","article-title":"Deficiency of the Hck and Src tyrosine kinases results in extreme levels of extramedullary hematopoiesis.","volume":"87","author":"Lowell","year":"1996","journal-title":"Blood."},{"key":"2020021217101538700_B14","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1530\/eje.0.1340143","article-title":"Recent developments in the understanding of the pathophysiology of osteopetrosis.","volume":"134","author":"Felix","year":"1996","journal-title":"Eur J Endocrinol."},{"key":"2020021217101538700_B15","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/8756-3282(95)00347-4","article-title":"The heterogeneity of the osteopetroses reflects the diversity of cellular influences during skeletal development.","volume":"17","author":"Popoff","year":"1995","journal-title":"Bone."},{"key":"2020021217101538700_B16","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1055\/s-2007-973550","article-title":"Early VEP and ERG evidence of visual dysfunction in autosomal recessive osteopetrosis.","volume":"29","author":"Thompson","year":"1998","journal-title":"Neuropediatrics."},{"key":"2020021217101538700_B17","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1136\/adc.73.5.453","article-title":"Infantile osteopetrosis; bone marrow transplantation from a cousin donor.","volume":"73","author":"Taylor","year":"1995","journal-title":"Arch Dis Child."},{"key":"2020021217101538700_B18","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1034\/j.1399-3046.1999.00063.x","article-title":"Human malignant osteopetrosis: pathophysiology, management and the role of bone marrow transplantation.","volume":"3(suppl 1)","author":"Fasth","year":"1999","journal-title":"Pediatr Transplant."},{"key":"2020021217101538700_B19","first-page":"602","article-title":"Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients.","volume":"54","author":"Hu","year":"1994","journal-title":"Am J Hum Genet."},{"key":"2020021217101538700_B20","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1023\/A:1022421920265","article-title":"Glial-cell cultures from brains of carbonic anhydrase II-deficient mutant mice: delay in oligodendrocyte maturation.","volume":"23","author":"Cammer","year":"1998","journal-title":"Neurochem Res."},{"key":"2020021217101538700_B21","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1136\/adc.66.5.638","article-title":"Malignant osteopetrosis: hypercalcaemia after bone marrow transplantation.","volume":"66","author":"Rawlinson","year":"1991","journal-title":"Arch Dis Child."}],"container-title":["Blood"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/ashpublications.org\/blood\/article-pdf\/97\/7\/1947\/1671890\/h8070101947.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/ashpublications.org\/blood\/article-pdf\/97\/7\/1947\/1671890\/h8070101947.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,2,12]],"date-time":"2020-02-12T17:54:54Z","timestamp":1581530094000},"score":1,"resource":{"primary":{"URL":"https:\/\/ashpublications.org\/blood\/article\/97\/7\/1947\/257542\/Bone-marrow-transplantation-corrects-osteopetrosis"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,4,1]]},"references-count":21,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2001,4,1]]}},"URL":"https:\/\/doi.org\/10.1182\/blood.v97.7.1947","relation":{},"ISSN":["1528-0020","0006-4971"],"issn-type":[{"value":"1528-0020","type":"electronic"},{"value":"0006-4971","type":"print"}],"subject":[],"published":{"date-parts":[[2001,4,1]]}}}