Vitamin D dependent rickets type II with myelofibrosis and immune dysfunction

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-hyd...

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Bibliographic Details
Published in:European journal of pediatrics 1991-07, Vol.150 (9), p.665-668
Main Authors: WALKA, M. M, DAUMLING, S, HADORN, H.-B, KRUSE, K, BELOHRADSKY, B. H
Format: Article
Language:English
Subjects:
Biological and medical sciences
Calcium - therapeutic use
Chemotaxis, Leukocyte
Diseases of the osteoarticular system
Humans
Hypophosphatemia, Familial - complications
Hypophosphatemia, Familial - drug therapy
Hypophosphatemia, Familial - immunology
Immunoglobulin G - analysis
Immunoglobulin M - analysis
Infant
Infusions, Intravenous
Male
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical sciences
Neutrophils - physiology
Primary Myelofibrosis - complications
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Summary: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 micrograms 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 anti-lipid 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 less than 0.028). The patient showed two pathological immune functions considered to contribute to the well-known susceptibility to infection in rickets.
ISSN:0340-6199
1432-1076
DOI:10.1007/BF02072630