Familial Hypophosphatemia
Authors: GEORGE J. MAGID
Journal: Annals of Internal Medicine (1966)

Article1 May 1966Familial HypophosphatemiaStudies on its Pathogenesis in an Affected Mother and SonGEORGE J. MAGID, M.D., F.A.C.P., JOHN R. MALONEY, M.D., JONAS H. SIROTA, M.D., F.A.C.P., EDWARD A. SCHWAB JR., B.A.GEORGE J. MAGID, M.D., F.A.C.P.Search for more papers by this author, JOHN R. MALONEY, M.D.Search for more papers by this author, JONAS H. SIROTA, M.D., F.A.C.P.Search for more papers by this author, EDWARD A. SCHWAB JR., B.A.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-64-5-1009 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptAn increasing number of reviews have described the clinical, laboratory, and X-ray findings of a form of rickets or osteomalacia similar to that due to vitamin D deficiency and resistant to ordinary doses of vitamin D. The main biochemical abnormalities are hypophosphatemia, normal or slightly reduced serum calcium concentrations, and in most cases, elevated serum alkaline phosphatase concentrations. Except for elevated renal phosphate clearances and rare instances of associated amino-aciduria or glycosuria, renal function has been shown to be normal. No other evidence of renal tubular dysfunction has been noted.The most consistent characteristic in all of the reported cases...References1. DENT CE: Rickets and osteomalacia from renal tubule defects. J. Bone Joint Surg. [Brit.] 34: 266, 1952. CrossrefMedlineGoogle Scholar2. PEDERSONMCCARROLL HEHR: Vitamin-resistant rickets. J. Bone Joint Surg. [Amer.] 33: 203, 1951. CrossrefGoogle Scholar3. DENTHARRIS CEH: Hereditary forms of rickets and osteomalacia. J. Bone Joint Surg. [Brit.] 34: 204, 1956. CrossrefGoogle Scholar4. 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SCHWABJR., B.A.Affiliations: San Jose, CaliforniaFrom the Metabolic Clinic, Department of Medicine, Santa Clara County Hospital and Medical Center, and the Santa Clara Medical Center Research Foundation, San Jose, Calif.This study was supported by grant AM-07383 from the National Institutes of Health, Bethesda, Md., with the assistance of a grant from the Santa Clara County Heart Association.This study was presented in part at the 48th Annual Meeting of the Federation of American Societies for Experimental Biology, Chicago, Ill., April 13, 1964, and at the Second Combined Regional Meeting of the American College of Physicians, Palm Springs, Calif., February 20, 1965.Requests for reprints should be addressed to George J. Magid, M.D., Department of Medicine, Santa Clara County Hospital and Medical Center, 751 South Bascom Ave., San Jose, Calif. 95128. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byFamilial Hypophosphatemic RicketsFamilial Vitamin D-Resistant Rickets Study of Six Cases with Evaluation of the Pathogenetic Role of Secondary HyperparathyroidismWILLIAM F. FALLS JR., M.D., NORMAN W. CARTER, M.D., FLOYD C. RECTOR JR., M.D., DONALD W. SELDIN, M.D., F.A.C.P.Recent Progress in Osteomalacia and RicketsA. ROBERT ARNSTEIN, M.D., BOY FRAME, M.D., F.A.C.P., HAROLD M. FROST, M.D. 1 May 1966Volume 64, Issue 5Page: 1009-1027KeywordsAttentionCalciumHospital medicineLongitudinal studiesMedical servicesPediatricsPhosphatasesPhosphatesVitamin DVitamin D deficiency ePublished: 1 December 2008 Issue Published: 1 May 1966 PDF downloadLoading ...