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Vitamin D dependent rickets type II with myelofibrosis and immune dysfunction

  • Metabolic Diseases
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Abstract

We present a new patient with vitamin D dependent rickets type II. A 20-month-old Arabian boy whose parents are first cousins showed florid rickets, myelofibrosis and recurrent septicaemia. In addition to absent specific binding for 1,25-dihydroxyvitamin D3 (1,25(OH)2D3). 25-Hydroxyvitamin D3-24-hydroxylase activity could not be induced in cultured fibroblasts. The patient did not respond to 99 μg 1,25(OH)2D3 per day, but skeletal and haematological abnormalities improved with daily infusion of 100 mg/kg calcium, as serum parathyroid hormone levels fell to normal values. At the age of 7 years, he died from pneumonia. The improvement of haematological abnormalities with calcium infusions but not with 1.25(OH)2D3 suggests a pathogenetic relationship of myelofibrosis and hyperparathyroidism. Having antilipid A IgM antibody titres up to 1∶10.000 after Gram negative septicaemias, the patient never produced corresponding IgG antibodies. His neutrophil chemotaxis was persistently reduced to 57%±3% of age-matched controls (P<0.028). The patient showed two pathological immune functions considered to contribute to the well-known susceptibility to infection in rickets.

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Abbreviations

VDDRII:

vitamin D dependent rickets type II

1,25(OH)2D3 :

1,25-dihydroxyvitamin D3

25(OH)D3 :

25-hydroxyvitamin D3

24,25(OH)2D3 :

24,25-dihydroxyvitamin D3

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Authors and Affiliations

  1. Dr. von Haunersches Kinderspital der Universität München, Lindwurmstrasse 4, D-8000, Munich, Germany

    M. M. Walka, S. Däumling, H. -B. Hadorn & B. H. Belohradsky

  2. Universitätskinderklinik Lübeck, Germany

    K. Kruse

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  1. M. M. Walka
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  2. S. Däumling
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  3. H. -B. Hadorn
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  4. K. Kruse
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  5. B. H. Belohradsky
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Walka, M.M., Däumling, S., Hadorn, H.B. et al. Vitamin D dependent rickets type II with myelofibrosis and immune dysfunction. Eur J Pediatr 150, 665–668 (1991). https://doi.org/10.1007/BF02072630

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  • DOI: https://doi.org/10.1007/BF02072630

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