Vitamin D dependent rickets type II with myelofibrosis and immune dysfunction.

摘要: 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 did respond 99 μg 1,25(OH)2D3 per day, but skeletal haematological abnormalities improved daily infusion of 100 mg/kg calcium, as serum parathyroid hormone levels fell normal values. At the age 7 years, he died from pneumonia. improvement calcium infusions 1.25(OH)2D3 suggests pathogenetic relationship hyperparathyroidism. Having antilipid IgM antibody titres up 1∶10.000 after Gram negative septicaemias, never produced corresponding IgG antibodies. His neutrophil chemotaxis was persistently reduced 57%±3% age-matched controls (P<0.028). two pathological immune functions considered contribute well-known susceptibility infection rickets.