Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042109 (urticaria)
 6,569 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hereditary periodic fever syndromes are defined by recurrent attacks of generalised inflammation for which no infectious or auto-immune cause can be identified. For most of these disorders, the molecular basis has recently been elucidated. This has opened the prospect of novel therapeutic approaches. Familial Mediterranean fever (FMF) is caused by mutations in the MEFV gene. Pathogenesis is poorly understood. The clinical severity is in part related to the mutations involved. Tumour necrosis factor receptor-1-associated periodic syndrome (TRAPS) is caused by mutations in the TNFRSF1A gene. This results in decreased serum levels soluble TNF-receptor leading to inflammation due to unopposed TNF-alpha action. Results of treatment with recombinant TNF-receptor analogues are promising. The hyper IgD periodic fever syndrome (HIDS) is caused by mutations in the MVK gene, leading to mevalonate kinase deficiency. The pathogenesis remains unclear. Muckle-Wells syndrome (MWS) and familial cold urticaria (FCU) are probably allelic disorders. The gene has been located, but not identified.
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PMID:Hereditary periodic fever syndromes. 1158 27

Hereditary periodic fever syndromes are a group of systemic disorders characterized by recurrent attacks of systemic inflammation (autoinflammation) without infectious or autoimmune cause. The hyper-IgD syndrome (HIDS) is a rare autosomal recessive inflammatory disorder characterized by recurrent fever, increased serum IgD (normal value < 100 U/ml) and generalized inflammation (lymphadenopathy, arthralgias/arthritis, abdominal complaints, skin rash, and headache). The attacks persist during the entire life although frequency and severity tend to diminish with age. HIDS is caused by specific mutations in the gene encoding mevalonate kinase, resulting in depressed enzymatic activity. At present the therapy for the syndrome is only supportive. Other than HIDS, other hereditary systemic inflammatory disorders have been described: the Familial Mediterranean Fever, the tumour necrosis factor receptor associated periodic syndrome (TRAPS), a disease related to the mutations of one of the TNF receptors, the Familial Cold Urticaria and the Muckle-Wells syndrome. The differential diagnosis with other causes of periodic fever is crucial for assessing appropriate management and treatment.
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PMID:[Hyper-IgD syndrome and other hereditary periodic fever syndromes]. 1547 May 20

Familial Mediterranean fever (FMF) is a common and well-understood hereditary periodic fever syndrome. Hereditary periodic fever syndromes include a group of multisystem diseases characterized by recurrent fever attacks with inflammation affecting skin, joints, and some other tissues. These are FMF, tumor necrosis factor receptor, tumor necrosis factor receptor associated periodic syndrome, hyperimmunglobulinemia D syndrome, Muckle-Wells syndrome, and familial cold urticaria. In literature, it is determined that some of these diseases cause hearing loss. In light of the foregoing, we thought that FMF patients may have the same type of subclinical hearing loss and, therefore, the hearing ability of these patients was evaluated with otoacoustic emission and high frequency audiometry tests.
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PMID:Evaluation of hearing in patients with familial Mediterranean fever. 2330 49