Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient had systemic mastocytosis of 16 years' duration, with urticaria pigmentosa, osteopetrosis with severe bone pain, mastocytosis of the bone marrow with myeloid metaplasia, gastrointestinal malabsorption, and Cushingold features associated with prolonged usage of corticosteroids. Treatment with a single dose of mithramycin resulted in an abrupt disappearance of the patient's generalized bone pain, but it had little effect on his histamine release-type symptomatology.
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PMID:Mithramycin in the treatment of systemic mastocytosis. 12 7

Five patients with nutritional osteomalacia or rickets and six children with rickets unresponsive to physiological doses of vitamin D were treated with 1alpha-hydroxyvitamin D3 (1alpha-OHD3). Patients with nutritional osteomalacia responded to 1--2 microgram/day of 1alpha-OHD3. The most striking findings were rises in plasma calcium and, in one case, a decrease in faecal calcium. In some cases there was a rise in plasma phosphorus, alkaline phosphatase remained unchanged. There was radiological healing. In three patients with cystinosis and one with hypophosphataemia and Barrter's syndrome 2 microgram of 1alpha-OHD3 produced healing of rickets. Plasma phosphate rose on treatment, possibly by a suppression of parathyroid activity. The response to such low doses of 1alpha-OHD3 suggests impaired 1alpha-hydroxylation of 25-hydroxyvitamin D in these patients. A patient with intestinal malabsorption was resistant to high doses of 1alpha-OHD3 by mouth but responded to parenteral administration. A boy with osteopetrosis and the biochemical changes of rickets was resistant to large doses of 1alpha-OHD3 presumably because of failure of osseous response.
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PMID:1alpha-hydroxyvitamin D3 in the treatment of nutritional and metabolic rickets and osteomalacia. 20 19