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[Polyglandular autoimmune type I syndrome with hypoparathyroidism, chronic mucocutaneous candidiasis and intestinal malabsorption]. 1990

C Y Hayashida, and S P Toledo, and M T Barros, and M C Ezabella, and A A Laudanna
Departamento de Clínica Médica, Faculdade de Medicina, Universidade de São Paulo.

The occurrence of chronic mucocutaneous candidiasis accompanying polyglandular autoimmune syndrome type I is reported in a female aged 13. Apart the candidiasis, since the age of 3, she had convulsions beginning at 6, cataract at 9, teeth abnormalities, and basal ganglia calcifications. Laboratory data confirmed the diagnosis of hypoparathyroidism. This picture was accompanied by intestinal malabsorption, leading to a state of progressive malnutrition, with intense hypoalbuminemia and anemia. Although the pathophysiology of malabsorption, in these cases, is still not clear, the therapeutic response to pancreatin, in the present case, suggested pancreatic insufficiency, reinforced by the normal d-xylose test and the small intestinal biopsy with inexpressive result.

UI MeSH Term Description Entries
D007011 Hypoparathyroidism A condition caused by a deficiency of PARATHYROID HORMONE (or PTH). It is characterized by HYPOCALCEMIA and hyperphosphatemia. Hypocalcemia leads to TETANY. The acquired form is due to removal or injuries to the PARATHYROID GLANDS. The congenital form is due to mutations of genes, such as TBX1; (see DIGEORGE SYNDROME); CASR encoding CALCIUM-SENSING RECEPTOR; or PTH encoding parathyroid hormone. Idiopathic Hypoparathyroidism,Hypoparathyroidism, Idiopathic
D008286 Malabsorption Syndromes General term for a group of MALNUTRITION syndromes caused by failure of normal INTESTINAL ABSORPTION of nutrients. Malabsorption Syndrome,Syndrome, Malabsorption,Syndromes, Malabsorption
D002178 Candidiasis, Chronic Mucocutaneous A clinical syndrome characterized by development, usually in infancy or childhood, of a chronic, often widespread candidiasis of skin, nails, and mucous membranes. It may be secondary to one of the immunodeficiency syndromes, inherited as an autosomal recessive trait, or associated with defects in cell-mediated immunity, endocrine disorders, dental stomatitis, or malignancy. Candidiases, Chronic Mucocutaneous,Chronic Mucocutaneous Candidiases,Chronic Mucocutaneous Candidiasis,Mucocutaneous Candidiases, Chronic,Mucocutaneous Candidiasis, Chronic
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000740 Anemia A reduction in the number of circulating ERYTHROCYTES or in the quantity of HEMOGLOBIN. Anemias
D001327 Autoimmune Diseases Disorders that are characterized by the production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides. Autoimmune Disease,Disease, Autoimmune,Diseases, Autoimmune
D013577 Syndrome A characteristic symptom complex. Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes

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