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

Twelve patients with chronic mucocutaneous candidosis were treated orally with ketoconazole (doses, 200-400 mg daily) for a mean period of six months. Seven of the patients had one of the following abnormalities: congenital endocrinopathy syndrome, an autosomal recessive or autosomal dominant defect in which candidosis is not associated with endocrinopathy, or the malabsorption syndrome. All patients had fungal infections of the mouth, and 11 had onychomycosis. Two patients were also infected with dermatophytes. At the end of treatment, 10 patients were cured of oral infection, and 11 with nail infections showed significant improvement. Marked improvement of hand and foot infections was also recorded. Patients infected with dermatophyte fungi had the poorest responses to therapy. The mean (+/- SD) MIC for isolates of Candida albicans from eight patients was 0.95 (+/- 0.78) microgram/ml. Clinical and biochemical monitoring showed no toxicity, and no resistant fungi emerged during treatment. Results of this initial study of ketoconazole for treatment of severe and recalcitrant superficial infections indicate the need for further assessment of this drug, which appears to offer a simple, nontoxic, and effective treatment of fungal infections.
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PMID:Treatment of chronic mucocutaneous candidosis with ketoconazole: a study of 12 cases. 625 39

A 21-year-old female presented at age 2 years with a chronic mucocutaneous candidiasis and at age 3 alopecia totalis. Later, chronic hypoparathyroidism and autoimmune adrenal insufficiency appeared. In addition, malabsorption syndrome and signs of pernicious anaemia occurred. The onychomycosis totally improved under systemic treatment with fluconazole (Diflucan), endocrine and organ failure with replacement therapy. The autoimmune polyglandular syndrome (APS 1) is a rare autosomal recessive inherited disease. Chronic mucocutaneous candidiasis (CMC) generally presents very early in life and is the most frequent of the three main diseases of APS type 1 (chronic hypoparathyroidism, autoimmune Addison's disease). It can be considered as a precocious marker of APS type 1. Consequently, all patients affected by isolated CMC, especially children, should be evaluated and carefully followed up by immunological, biochemical, and clinical tests to recognize signs and symptoms of imminent or ongoing endocrine glandular failure.
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PMID:Autoimmune polyglandular syndrome (APS) type 1 and candida onychomycosis. 1197 74