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)

To define the clinical picture and course of the autosomal recessive disease called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), we report data from our 10-month to 31-year follow-up of 68 patients from 54 families, now 10 months to 53 years of age. The clinical manifestations varied greatly and included from one to eight disease components, 63 percent of the patients having three to five of them. The initial manifestation was oral candidiasis in 41 patients (60 percent), intestinal malabsorption in 6 (9 percent), and keratopathy in 2 (3 percent). All the patients had candidiasis at some time. The earliest endocrine component appeared at 19 months to 35 years of age. Hypoparathyroidism was present in 54 patients (79 percent), adrenocortical failure in 49 (72 percent), and gonadal failure in 15 (60 percent) of the female patients greater than or equal to 13 years of age and 4 (14 percent) of the male patients greater than or equal to 16 years of age. There were multiple endocrine deficiencies in half the patients. From 4 to 29 percent of the patients had periodic malabsorption, gastric parietal-cell atrophy, hepatitis, alopecia, vitiligo, or a combination of these conditions. Dental-enamel hypoplasia and keratopathy were also frequent but were not attributable to hypoparathyroidism. In the patients whose initial manifestation (other than candidiasis) was adrenal failure, the other components developed less often than in the remaining patients. We conclude that the clinical spectrum in patients with APECED is broad. The majority of patients have three to five manifestations, some of which may not appear until the fifth decade. Therefore, all patients need lifelong follow-up for the detection of new components of the disease.
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PMID:Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. 234 35

Vitamin A deficiency remains an important cause of ocular morbidity among patients with chronic liver disease and lipid malabsorption, and is a major cause of blindness in developing countries. Early ocular surface changes include keratinization of the conjunctiva and development of superficial punctate keratopathy. More severe deficiency results in corneal keratinization, ulceration, and necrosis. Vitamin A is necessary for normal differentiation of nonsquamous epithelium; keratinization is a direct consequence of its deficiency. Exposure exacerbates the process and surface phenomena, especially localized drying from loss of mucus-secreting goblet cells, reduced aqueous tear production, and irregularities of the keratinized surface may all contribute to stromal melting, which can occur in the absence of inflammatory infiltration or bacterial invasion. Surface abnormalities respond rapidly to systemic vitamin A. Significantly, corneal changes disappear long before the reappearance of goblet cells. Inflammation sometimes masks or reverses the xerotic process.
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PMID:Effects of vitamin A deficiency on the ocular surface. 660 47

Hypovitaminosis A is a well-recognized condition in many developing countries. However, in the developed world the diagnosis is frequently missed or delayed because of its rarity. A 67-year-old man from metropolitan Adelaide presented to us with gradual but severe bilateral visual loss. He had marked punctate epithelial keratopathy in both eyes. Hypovitaminosis was suspected because of his bizarre dietary habit, and this was confirmed by a combination of impression cytology of the ocular surface and biochemical testing of his venous blood. His vision responded dramatically to vitamin A supplementation. Hypovitaminosis A should be suspected in severe cases of 'dry-eye', especially in those patients with unusual dietary habit or malabsorption.
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PMID:Hypovitaminosis A in metropolitan Adelaide. 1134 50

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is caused by mutations in the autoimmune regulator (AIRE) gene, which has a central function in maintaining immunological tolerance. A number of conditions with proven or likely autoimmune pathogenesis occur in APECED: hypoparathyroidism, adrenocortical insufficency, candidiasis, hypogonadism, type 1 diabetes, hypothyroidism, hypophysitis, hepatitis, malabsorption, nail dystrophy, enamel hypoplasia and keratopathy. It is not clear which factors are responsible for variation in clinical picture of APECED, but human leukocyte antigen (HLA) genotype may be important. The authors report the first description of a case of primary pulmonary hypertension (PPH) in patient with APECED, caused by R257X mutation in AIRE. The HLA genotype of the patient (DRB1*01/DRB1*11, DQB1*0301/DQB1*0501) has been previously reported as a predisposing factor to PPH. The findings from this study, provided that other similar cases are reported, suggest that immune deregulation plays a role in the pathogenesis of primary pulmonary hypertension.
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PMID:Fatal primary pulmonary hypertension in a 30-yr-old female with APECED syndrome. 1458 26