Abstract
Acro-osteolysis with diffuse osteoporosis in the absence of other associated diseases is named Hajdu-Cheney syndrome. Reduced bone formation rather than enhanced bone resorption has been indicated as the mechanism of osteoporosis. On the assumption that in this syndrome the active bone resorption which produces distal osteolysis must also predominate in generalized osteoporosis, we investigated boae histology, calcium kinetics, calciotropic hormones and bone markers in a patient suffering from sporadic Hajdu-Cheney syndrome. A radius bone biopsy taken far from the osteolytic lesions showed severe osteoporosis with a marked increase in osteoclastic bone resorption and reduced bone formation. Total body calcium clearance, performed through an analysis of the kinetics of calcium infusion, was 2.8 times higher than in normal controls, indicating the presence of active osteoclastic bone resorption. Serum parathormone, 1, 25-dihydroxycholecalciferol, alkaline phosphatase and urinary hydroxiproline were in the normal range. These data indicate that in Hajdu-Cheney syndrome trabecular osteoporosis is produced by the same mechanism that induces distal osteolysis, which suggests that it may be sustained by local acting factors stimulating osteoclastic resorption.
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References
Destouet J.M., Murphy W.A. Acquired acroosteolysis and acronecrosis. Arthritis Rheum. 26: 1150, 1983.
Kemp S.S., Dalinka M.K., Schumacher R.H. Acro-osteolysis: etiologic and radiological considerations. JAMA 255: 2058, 1986.
Hajdu N., Kauntze R. Cranio-skeletal dysplasia. Br. J.Radiol. 21: 42, 1948.
Cheney W.D. Acro-osteolysis. Am. J. Roentgenol. 94: 595, 1965.
Elias A.N., Pinals R.S., Anderson H.C., Gould L.V., Streeten D.H.P. Hereditary osteodysplasia with Acro-osteolysis (The Haydu-Cheney syndrome). Am. J. Med. 65: 627, 1978.
Gilula L.A., Bliznak J., Staple T.W. Idiopathic nonfamilial acro-osteolysis with cortical defects and mandibular ramus osteolysis. Radiology 121: 63, 1976.
Weleber R.G., Beals R.K. The Hajdu-Cheney syndrome: report of two cases and review of the literature. J. Pediatr. 88: 243, 1976.
Brown D.M., Bradford D.S., Gorlin R.J., Desnick R.J., Langer Jr. L.O., Jowsey J., Sauk Jr. J.J. The acro-osteolysis syndrome: morphologic and biochemical studies. J. Pediatr. 88: 573, 1976.
Sakano T., Nishi H.Y., Kobayashi M., Tanaka T., Yamaoka K., Seino Y., Usui T. Levels of vitamin D metabolites in a case of acro-osteolysis syndrome. Acta Paediatr. Scand. 72: 617, 1983.
McKusick V.A. Mendelian Inheritance in Man. Johns Hopkins Press, Baltimore, ed. 7, 1986, p. 15.
Nussbaum S.R., Zahradnik R.J., Lavigne J.R., Bren-nan G.L, Nozawa-Ung K., Kim L.Y., Keutmann H.T., Wang C.A., Potts Jr. J.T., Segre G.V. Highly sensitive two-site immunoradiometric assay of parathyrin, and its clinical utility in evaluating patients with hypercalcemia. Clin. Chem. 33: 1364, 1987.
Eisman J.A., Hamstra A.J., Kream B.E., DeLuca H.F. A sensitive, precise and convenient method for determination of 1, 25-Dihydroxyvitamin D in human plasma. Arch. Biochem. Biophys. 176: 235, 1976.
Prockop D.J., Udenfriend S. A specific method for the analysis of hydroxyproline in tissues and urine. Anal. Biochem. 1: 228, 1960.
Cleary J., Sanders R.A. A simplied procedure for the measurement of total hydroxyproline in urine. Clin. Chim. Acta 57: 217, 1974.
Strazzullo P., Galletti F., Cirillo M., Siani A., Nunziata V., Giannattasio R., Mancini M. Altered extracellular calcium homeostasis in essential hypertension: a consequence of abnormal cell calcium handling. Clin. Sci. 71: 239, 1986.
Gibaldi M., Perrier D. Pharmacokinetics. Marcel Dekker, New York, 1982.
Gowen M., Mundy G.R. Actions of recombinant interleukin 1, interleukin 2, and interferon-γ on bone resorption in vitro. J.Immunol. 136: 2478, 1986.
Raisz LG. Local and systemic factors in the pathogenesis of osteoporosis. N. Engl. J. Med. 318: 818, 1988.
Griffith G.C., Nichols G., Asher J.D., Flanagan B. Heparin osteoporosis. JAMA 193: 91, 1965.
Norton L., Proffitt W.R., Moore R.R. Inhibition of bone growth in vitro by endotoxin: histamine effect. Nature 221: 469, 1969.
Raisz L.G., Sandberg A.L., Goodson J.M., Simmons H.A., Hergenhagen S.E. Complement-dependent stimulation of prostaglandin synthesis and bone resorption. Science 185: 789, 1974.
Harris Jr. E.D., Krane S.M. Collagenases. N.Engl. J. Med. 291: 557, 1974.
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Nunziata, V., di Giovanni, G., Ballanti, P. et al. High turnover osteoporosis in acro-osteolysis (Hajdu-Cheney syndrome). J Endocrinol Invest 13, 251–255 (1990). https://doi.org/10.1007/BF03349553
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DOI: https://doi.org/10.1007/BF03349553