Hypophosphatasia in the adult |
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| Affiliation: | 1. Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Brigham and Women''s Hospital, Boston, USA;2. Vincent Department of Obstetrics, Gynecology and Reproductive Biology, Massachusetts General Hospital, Boston, USA;3. Department of Obstetrics, Gynecology & Reproductive Biology, Harvard Medical School Boston, MA, USA;4. Gynecologic Oncology Program, Susan F. Smith Center for Women''s Cancers, Dana Farber Cancer Institute/Harvard Cancer Center, Boston, USA;5. Department of Obstetrics, Paulista School of Medicine, UNIFESP — São Paulo Federal University, São Paulo, SP, Brazil;6. Trophoblastic Disease Center of São Paulo Hospital, Paulista School of Medicine, UNIFESP — São Paulo Federal University, São Paulo, SP, Brazil;7. New England Trophoblastic Disease Center, Donald P. Goldstein M.D., Trophoblastic Tumor Registry, Boston, USA |
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| Abstract: | Two sisters are presented, now aged forty-one and forty-two, whom we think represent adult survivors of hypophosphatasia, a disease hitherto only described in children. Both sisters had had “rickets” in childhood, from which they had made a spontaneous recovery. The elder is now crippled because of fractures and painful bones, the other remains symptom free. They both constantly manifest a low alkaline phosphatase level in the plasma and a large excretion of phosphoethanolamine in the urine, as in the childhood disease. Studies of the relatives who all have normal bones, show that minor degrees of both these biochemical features frequently occur among them. Metabolic studies of the elder sib have shown results consistent with a mild degree of an overdose of vitamin D. However, this condition was largely uninfluenced by the administration of small doses of vitamin D, cortisone, and a diet low in vitamin D. |
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