Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022568 (keratitis)
 5,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Chronic kiratitis developed in two children with nonsurgical hypoparathyroidism, as part of an autosomal recessive syndrome that included adrenal insufficiency and moniliasis in what was postulated to be an autoimmune disease. The corneal changes may also have been caused by autoimmune mechanism. Activity of the keratitis diminished once the hypoparathyroidism had been brought under control. However, these patients were thought to be at risk for adrenal insufficiency: neither had moniliasis or adrenocortical insufficiency at present, but the features of the hypoparathyroidism adrenal insufficiency-moniliasis syndrome appeared at different ages and in differing sequences.
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PMID:Keratitis with hypoparathyroidism. 56 71

Optimal management of the ocular and systemic components of the multiple endocrine deficiency, autoimmune disease, candidiasis syndrome requires early identification of affected individuals. This autosomal recessive syndrome is characterized by hypoparathyroidism, Addison's disease, and chronic mucocutaneous candidiasis among other endocrinopathies and immune disorders. We retrospectively reviewed 16 patients, 14 with the full syndrome and two with the syndrome partially manifested. Four of these patients manifested a self-limited, bilateral keratitis in which the age of onset ranged from 2 to 9 years. Keratitis preceded the onset of any endocrinopathy in two of four patients and was among the first signs of the syndrome. The keratitis was not caused by hypoparathyroidism or candidiasis. The anterior stromal vascularization and scarring resulted in a visual acuity of 20/50 or worse in four of eight affected eyes. We recommend medical management of the corneal disease without surgical intervention.
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PMID:Keratitis associated with the multiple endocrine deficiency, autoimmune disease, and candidiasis syndrome. 356 16

Polyglandular Autoimmune Syndrom type 1 (PAS-1) or Autoimmune PolyEndocrinopathy Candidiasis-Ectodermal-Dystrophy (APECED) is a rare recessive autosomal disease related to Autoimmune Regulator (AIRE) gene mutations. AIRE is mainly implicated in central and peripheric immune tolerance. Diagnosis was classically based on presence of at least two out of three "majors" criterions of Whitaker's triad (candidiasis, autoimmune hypoparathyroidism and adrenal insufficiency). Presence of one criterion was sufficient when a sibling was previously diagnosed. However, some atypic or poorly symptomatic variants do not correspond to these criterions. As a matter of fact, digestive (malabsorption, pernicious anemia, hepatitis), cutaneous (alopecia, vitiligo, enamel dysplasia) or ophtalmological (keratitis) components could prevail. In these cases, diagnosis could be made by molecular genetics. Prognosis is influenced by genetic (AIRE mutations, HLA), hormonal and environmental (infections) factors. Potentially letal components (hepatitis and severe malabsorption) could be treated by immunosuppressors. Candidiasis and other infections should be carefully screened and treated before beginning those therapies, in order to avoid severe systemic infections.
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PMID:Polyglandular autoimmune syndrome type I. 2318 77

Early diagnosis of potentially life-threatening autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is crucial, but is often delayed due to the clinical heterogeneity of the disorder. Even in the absence of the classic disease triad of chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenocortical insufficiency, a diagnosis of APECED should be considered in children who have hypoparathyroidism and chronic keratitis, with a past medical history showing a mild and transient Candida infection.
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PMID:Early-onset hypoparathyroidism and chronic keratitis revealing APECED. 2650 12

Autoimmune polyendocrine syndrome type 1 (APS1) is a scarce polyendocrinopathy with autosomal recessive inheritance results from defects in the human autoimmune regulatory (AIRE) gene. In addition to three major manifestations of APS1 including mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease, ophthalmic problems such as keratoconjunctivitis, dry eye, iridocyclitis, and cataract can be seen in these patients. In this article, we introduced two siblings presented with nail dystrophia, severe photophobia, and keratitis since early childhood which genetic examination revealed single nucleotide T>C translocation in their 2nd exon and heterozygous deletion mutation in their 12th exon.
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PMID:Delay in Diagnosis of Two Siblings with Severe Ocular Problems and Autoimmune Polyglandular Syndrome. 3261 66