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Calcium-Phosphor-Stoffwechseluntersuchungen an einem Fall von McCune-Albright-Syndrom mit Phosphatdiabetes

Studies of calcium phosphate metabolism in a case of McCune-Albright Syndrome with phosphate diabetes

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Abstract

The case of a 2 1/2-year-old girl with the unusual combination of fibrous dysplasia of bone and vitamin D-resistant rickets is described. Metabolic studies showed the evidence of phosphate diabetes with hypophosphatemia, normocalcemia and elevated alkaline phosphatase in the blood and extremely low calcium levels and high phosphate clearance that did not yield to calcium infusions in the urine. The X-ray pictures before and during high vitamin D therapy, which only made the rickets disappear, are discussed; they still showed fibrous dysplasia.

Zusammenfassung

Bei einem 2 6/12 jährigen, familiär nicht belasteten Mädchen wird die Kombination eines Mccune-Albright-Syndroms mit einem Phosphatdiabetes beobachtet. Eine derartige Kombination ist in der Weltliteratur erst zweimal mitgeteilt worden. Nach kurzer Beschreibung der klinischen Symptomatik wird auf die ausgedehnten Skeletbefunde eingegangen. Pharmakologisch dosiertes Vitamin D3 führt zur Abheilung der rachitisch bedingten Veränderungen, während die fibröse Knochendysplasie dadurch radiologisch deutlicher hervortritt. Untersuchungen des Calcium-Phosphor-Stoffwechsels erbringen die einem Phosphatdiabetes entsprechenden Serum-und Harnbefunde; lediglich die alkalische Serumphosphatase zeigt ein Ausnahmeverhalten, da sie auch unter Vitamin D nicht zur Norm absinkt.

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Literatur

  1. Albright, F., Butler, A. M., Bloomberg, E.: Rickets resistant to vitamin D therapy. Amer. J. Dis. Child. 54, 529 (1937)

    Google Scholar 

  2. Albright, F., Buller, A. M., Hampton, A. O., Smith, P.: Syndroma charakterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction with precocious puberty in females. New Engl. J. Med. 216, 727 (1937)

    Google Scholar 

  3. Arnaud, C., Glorieux, F., Scriver, C. R.: Serum parathyroid hormone in X-linked hypophosphatemia. Science 173, 845 (1971)

    Google Scholar 

  4. Boenheim, F., Mc. Gavack, T. H.: Polyostotische fibröse Knochendysplasie. Ergebn. inn. Med. Kinderheilk. 3, 157 (1952)

    Google Scholar 

  5. Bourgeois, M., Bierich, J. R.: Die genuine Vitamin-D-resistente Rachitis und ihre Behandlung mit hohen Vigantoldosen. Mschr. Kinderheilk. 114, 472 (1966)

    Google Scholar 

  6. Fanconi, G., Girardet, P.: Familiärer persistierender Phosphatdiabetes mit D-Vitamin resitenter Rachitis. Helv. paediat. Acta 7, 14 (1952)

    Google Scholar 

  7. Dincer, F., Stutzmann, L.: Fibrous dysplasia of the bone. Review of twenty four cases. Amer. J. Med. 44, 421 (1968)

    Google Scholar 

  8. Fischer, J. A.: Pers. Mittlg.

  9. Haas, H. G., Canany, Z. Z., Kyle, L. H., Mintz, D. H.: Calcium infusion in the detection of bone disease in parathyroid disorders. Acta endocr. (Kbh.) 43, 170 (1963)

    Google Scholar 

  10. Halvorsen, S., Aas, K.: Renal tubular defects in fibrous dysplasia of bone. Acta paediat. (Uppsala) 50, 1297 (1961)

    Google Scholar 

  11. Kunin, A. S.: Polyostotic fibrous dysplasia with hypophosphatemia: a metabolic study. Metabolism 22, 978 (1962)

    Google Scholar 

  12. Kyle, L. H., Canary, J. J., Mintz, D. M., de Leon, A. C.: Inhibitory effects of induced hypercalcemia on secretion of parathyroidhormone. J. clin. Endocr. 22, 52 (1962)

    Google Scholar 

  13. Nordin, B. E. C., Fraser, R.: A calciuminfusion test. Lancet 1956 I, 823

  14. Reitz, R. E., Weinstein, R. L.: Parathyroid hormone secretion in familial vitamin-D-resistant rickets. New Engl. J. Med. 289, 941 (1973)

    Google Scholar 

  15. Royer, P., Habib, R., Mathieu, M.: Nephrologie im Kindesalter. Stuttgart: Thieme 1967

    Google Scholar 

  16. Ryan, G., Nibbe, A. F., Schwarz, T. B., Ray, R. D.: Fibrous dysplasia of bone with vitamin D resistant rickets a case study. Metabolism 17, 988 (1968)

    Google Scholar 

  17. Swann, W. F.: Pathogenesis of bone lesions in neurofibromatosis. Brit. J. Radiol. 27, 623 (1954)

    Google Scholar 

  18. Swoboda, W.: Die genuine Vitamin-D-resistente Rachitis. Wiener Beiträge zur Kinderheilkunde. Wien: Maudrich 1956

    Google Scholar 

  19. Sternberg, W. M., Joseph, V.: Osteodystrophia fibrosa combined with precocious puberty and exophthalmic goiter. Amer. J. Dis. Child. 63, 748 (1942)

    Google Scholar 

  20. Stickler, G. B., Beabont, J. W., Rigg, B. L.: Vitamin-D-resistant Rickets. Mayo Clin. Proc. 45, 197 (1970)

    Google Scholar 

  21. Vaandrager, G. J., Weyers, H. A.: Primary vitamin D refractory rickets: I. The value of the calciuria determination in the therapeutic regulation with high doses of vitamin D. Ann. paediat. (Basel) 201, 73 (1963)

    Google Scholar 

  22. Vaandrager, G. J., Weyers, H. A.: Primary vitamin D refractory rickets: II. The calcium infusion test as a means of determining the calcium avidity of the skeleton (calcium retention test). Ann. paediat. (Basel) 201, 185 (1963)

    Google Scholar 

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  1. Universitäts-Kinderklinik Graz, Graz, Österreich

    H. M. Grubbauer, W. Stögmann & H. Meßner

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  1. H. M. Grubbauer
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  2. W. Stögmann
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  3. H. Meßner
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Grubbauer, H.M., Stögmann, W. & Meßner, H. Calcium-Phosphor-Stoffwechseluntersuchungen an einem Fall von McCune-Albright-Syndrom mit Phosphatdiabetes. Z. Kinder-Heilk. 117, 47–61 (1974). https://doi.org/10.1007/BF00439023

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