{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T19:53:12Z","timestamp":1762458792481,"version":"3.37.3"},"reference-count":18,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[1994,5,1]],"date-time":"1994-05-01T00:00:00Z","timestamp":767750400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["RR000645"],"award-info":[{"award-number":["RR000645"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1994,5,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>We provide a 20 year follow-up of a family with three siblings affected by hereditary hyperphosphatasia (HH). An iliac crest bone biopsy was performed on one of the siblings following double-tetracycline labeling, with results reported quantitatively in a standard histomorphometric format. Biochemical parameters of disease activity were monitored in the patient before and after treatment with oral etidronate disodium, 20 mg\/kg\/day taken for 5 weeks. Biochemical evidence of intense disease activity continued 20 years after the initial diagnosis of HH in the sibling studied. His bone biopsy specimen also revealed extremely high bone turnover but low cancellous bone volume and osteoclasts unlike those found in Paget's disease. Treatment with etidronate disodium resulted in a temporary 40% reduction in serum alkaline phosphatase and 24 h urine hydroxyproline excretion, with reduction in serum osteocalcin from two times the upper limit of normal to a subnormal level. We conclude that disease activity in HH can continue unabated for two decades. Our bone biopsy finding of low cancellous bone volume, the consistent lack of pagetic-looking osteoclasts in our and other studies, plus the clinical features of HH (childhood onset and extremely diffuse disease with gross skeletal deformation) serve to distinguish HH from Paget's disease. Bisphosphonates may be of value in treating HH.<\/jats:p>","DOI":"10.1002\/jbmr.5650090519","type":"journal-article","created":{"date-parts":[[2010,2,3]],"date-time":"2010-02-03T16:32:10Z","timestamp":1265214730000},"page":"733-738","source":"Crossref","is-referenced-by-count":17,"title":["Hereditary hyperphosphatasia: 20 year follow-up and response to disodium etidronate"],"prefix":"10.1093","volume":"9","author":[{"given":"Frank","family":"Singer","sequence":"first","affiliation":[{"name":"Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ethel","family":"Siris","sequence":"additional","affiliation":[{"name":"Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Shane","sequence":"additional","affiliation":[{"name":"Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Dempster","sequence":"additional","affiliation":[{"name":"Regional Bone Center, Helen Hayes Hospital, West Haverstraw, New York"},{"name":"Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Lindsay","sequence":"additional","affiliation":[{"name":"Regional Bone Center, Helen Hayes Hospital, West Haverstraw, New York"},{"name":"Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"May","family":"Parisien","sequence":"additional","affiliation":[{"name":"Regional Bone Center, Helen Hayes Hospital, West Haverstraw, New York"},{"name":"Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, New York"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[1994,5,1]]},"reference":[{"key":"2024013113125914900_bib1","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/0002-9343(69)90147-8","article-title":"Hereditary hyperphosphatasia","volume":"47","author":"Thompson","year":"1969","journal-title":"Am J Med"},{"key":"2024013113125914900_bib2","first-page":"504","volume-title":"Principles and Practice of Endocrinology and Metabolism","author":"Siris","year":"1990"},{"key":"2024013113125914900_bib3","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1016\/0221-8747(81)90046-1","article-title":"Clinical and biochemical effects of EHDP in Paget's disease of bone: Patterns of response to initial treatment and to long term therapy","volume":"4\/5","author":"Siris","year":"1981","journal-title":"Metab Bone Dis"},{"key":"2024013113125914900_bib4","first-page":"193","volume-title":"Pulmonary Medicine","author":"Whitelaw","year":"1982","edition":"2nd ed."},{"key":"2024013113125914900_bib5","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1016\/0049-0172(94)90037-X","article-title":"Epidemiologic aspects of Paget's disease: Family history and relationship to other medical conditions","volume":"23","author":"Siris","year":"1994","journal-title":"Semin Arthritis Rheum"},{"key":"2024013113125914900_bib6","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1097\/00003086-198603000-00028","article-title":"Hyperphosphatasemia in an adult. Clinical, roentgenographic, and histomorphometric findings and comparison to classical Paget's disease","volume":"204","author":"Einhorn","year":"1986","journal-title":"Clin Orthop"},{"key":"2024013113125914900_bib7","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1002\/jbmr.5650020617","article-title":"Bone histomorphometry: Standardization of nomenclature, symbols and units. Report of the ASBMR Histomorphometry Nomenclature Committee","volume":"2","author":"Parfitt","year":"1987","journal-title":"J Bone Miner Res"},{"key":"2024013113125914900_bib8","doi-asserted-by":"crossref","first-page":"29","DOI":"10.2214\/ajr.129.1.29","article-title":"Calcitonin treatment in hereditary bone dysplasia with hyperphosphatasemia: A radiographic and histologic study of bone","volume":"129","author":"Whalen","year":"1977","journal-title":"Am J Roentgenol"},{"key":"2024013113125914900_bib9","first-page":"438","article-title":"Familial hyperphosphatasemia with ateliosis and hypermetabolism of growing membranous bone; review of the clinical radiographic and chemical features","volume":"4","author":"Caffey","year":"1973","journal-title":"Prog Pediatr Radiol"},{"key":"2024013113125914900_bib10","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/S0221-8747(81)80017-3","article-title":"Three adult cases resembling hereditary bone dysplasia","volume":"3","author":"Kraszeski","year":"1981","journal-title":"Metab Bone Dis"},{"key":"2024013113125914900_bib11","first-page":"341s","article-title":"Hereditary bone dysplasia with hyperphosphatasaemia: Response to synthetic human calcitonin","volume":"5","author":"Horwith","year":"1976","journal-title":"Clin Endocrinol (Oxf) (Suppl)"},{"key":"2024013113125914900_bib12","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1259\/0007-1285-47-553-9","article-title":"Healing of the bones in juvenile Paget's disease treated by human calcitonin","volume":"47","author":"Doyle","year":"1974","journal-title":"Br J Radiol"},{"key":"2024013113125914900_bib13","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1302\/0301-620X.59B4.562883","article-title":"Familial idiopathic hyperphosphatasia. A study of two young siblings treated with porcine calcitonin","volume":"59","author":"Blanco","year":"1977","journal-title":"J Bone Joint Surg [Br]"},{"key":"2024013113125914900_bib14","first-page":"70","article-title":"Histomorphometric analysis of normal bone from iliac crest biopsy","volume":"A86","author":"Melsen","year":"1978","journal-title":"Acta Pathol Microbiol Scand"},{"first-page":"39","year":"1977","author":"Courpron","key":"2024013113125914900_bib15"},{"first-page":"156","year":"1973","author":"Meunier","key":"2024013113125914900_bib16"},{"key":"2024013113125914900_bib17","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1016\/S0030-5898(20)31372-9","article-title":"The role of bone biopsy in the diagnosis of metabolic bone diseases","volume":"12","author":"Melsen","year":"1981","journal-title":"Orthop Clin North Am"},{"key":"2024013113125914900_bib18","first-page":"27","volume-title":"Osteoporosis II","author":"Meunier","year":"1979"}],"container-title":["Journal of Bone and Mineral Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjbmr.5650090519","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/academic.oup.com\/jbmr\/article-pdf\/9\/5\/733\/56497492\/5650090519.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jbmr\/article-pdf\/9\/5\/733\/56497492\/5650090519.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,13]],"date-time":"2024-03-13T14:58:18Z","timestamp":1710341898000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jbmr\/article\/9\/5\/733-738\/7501034"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,5,1]]},"references-count":18,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1994,5,1]]},"published-print":{"date-parts":[[1994,5,1]]}},"URL":"https:\/\/doi.org\/10.1002\/jbmr.5650090519","relation":{},"ISSN":["0884-0431","1523-4681"],"issn-type":[{"type":"print","value":"0884-0431"},{"type":"electronic","value":"1523-4681"}],"subject":[],"published-other":{"date-parts":[[1994,5,1]]},"published":{"date-parts":[[1994,5,1]]}}}