- 同
- HIDS
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- the 4th letter of the Roman alphabet (同)d
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
- deuteriumの化学記号
- (おもに人称代名詞・固有名詞(人名),thereの後で)had, wouldの短縮形 / (疑問文でwhere,what,whenの後で)didの短縮形;Where'd he go?=Where did he go?
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/01/26 10:28:40」(JST)
[Wiki en表示]
| Hyperimmunoglobulinemia D with recurrent fever |
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Mevalonic acid
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| Classification and external resources |
| OMIM |
260920 |
| DiseasesDB |
30161 |
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[edit on Wikidata]
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Hyperimmunoglobulinemia D with recurrent fever (commonly abbreviated as HIDS) is a periodic fever syndrome originally described in 1984 by the internist Prof. Jos van der Meer,[1] then at Leiden University Medical Centre. No more than 300 cases have been described worldwide.
Contents
- 1 Features
- 2 Cause
- 3 Pathophysiology
- 4 Therapy
- 5 See also
- 6 References
- 7 External links
FeaturesEdit
HIDS is one of a number of periodic fever syndromes. It is characterised by attacks of fever, arthralgia, skin lesions including cyclical mouth ulcers, and diarrhea. Laboratory features include an acute phase response (elevated CRP and ESR) and markedly elevated IgD (and often IgA), although cases with normal IgD have been described.[2]
It has mainly been described in the Netherlands and France, although the international registry includes a number of cases from other countries.[2]
The differential diagnosis includes fever of unknown origin, familial Mediterranean fever (FMF) and familial Hibernian fever (or TNFα reception associated periodic syndrome/TRAPS).[2]
CauseEdit
Virtually all patients with the syndrome have mutations in the gene for mevalonate kinase, which is part of the HMG-CoA reductase pathway, an important cellular metabolic pathway.[3][4] Indeed, similar fever attacks (but normal IgD) have been described in patients with mevalonic aciduria - an inborn error of metabolism now seen as a severe form of HIDS.[2]
PathophysiologyEdit
It is not known how mevalonate kinase mutations cause the febrile episodes, although it is presumed that other products of the cholesterol biosynthesis pathyway, the prenylation chains (geranylgeraniol and farnesol) might play a role.[2]
TherapyEdit
The recurring fevers are highly unpleasant for patients, but so far only the immunosuppressant drugs etanercept[citation needed] (Enbrel) and anakinra[5] have been shown to be effective. Statin drugs might decrease the level of mevalonate and are presently being investigated. A recent single case report highlighted bisphosphonates as a potential therapeutic option.[6]
See alsoEdit
- List of cutaneous conditions
ReferencesEdit
- ^ van der Meer JW, Vossen JM, Radl J, et al. (May 1984). "Hyperimmunoglobulinaemia D and periodic fever: a new syndrome". Lancet 1 (8386): 1087–90. doi:10.1016/S0140-6736(84)92505-4. PMID 6144826.
- ^ a b c d e Drenth JP, van der Meer JW (December 2001). "Hereditary periodic fever". N. Engl. J. Med. 345 (24): 1748–57. doi:10.1056/NEJMra010200. PMID 11742050.
- ^ Drenth JP, Cuisset L, Grateau G, et al. (June 1999). "Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group". Nat. Genet. 22 (2): 178–81. doi:10.1038/9696. PMID 10369262.
- ^ Houten SM, Kuis W, Duran M, et al. (June 1999). "Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome". Nat. Genet. 22 (2): 175–7. doi:10.1038/9691. PMID 10369261.
- ^ Rigante D, Ansuini V, Bertoni B, et al. (November 2006). "Treatment with anakinra in the hyperimmunoglobulinemia D/periodic fever syndrome". Rheumatol. Int. 27 (1): 97–100. doi:10.1007/s00296-006-0164-x. PMID 16871408.
- ^ Cantarini, L; Vitale, A; Magnotti, F; Lucherini, O. M.; Caso, F; Frediani, B; Galeazzi, M; Rigante, D (2013). "Weekly oral alendronate in mevalonate kinase deficiency". Orphanet Journal of Rare Diseases 8: 196. doi:10.1186/1750-1172-8-196. PMC 3880037. PMID 24360083.
External linksEdit
- HIDSNet homepage
- SAID Support - Hyper-IgD Syndrome
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Inborn error of steroid metabolism
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| Mevalonate pathway |
- Hyper-IgD syndrome
- Mevalonate kinase deficiency
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| To cholesterol |
- 7-Dehydrocholesterol path: Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
- CHILD syndrome
- Conradi-Hünermann syndrome
- Lathosterolosis
- Smith-Lemli-Opitz syndrome
- desmosterol path: Desmosterolosis
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| Steroids |
Corticosteroid
(including CAH) |
- aldosterone: Glucocorticoid remediable aldosteronism
- cortisol/cortisone: CAH 17α hydroxylase
- CAH 11β hydroxylase
- both: CAH 3β dehydrogenase
- CAH 21α hydroxylase
- Apparent mineralocorticoid excess syndrome/11β dehydrogenase
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| Sex steroid |
| To androgens |
- 17-beta-hydroxysteroid dehydrogenase deficiency
- 5-alpha-reductase deficiency
- Pseudovaginal perineoscrotal hypospadias
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| To estrogens |
- Aromatase deficiency
- Aromatase excess syndrome
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| Other |
- X-linked ichthyosis
- Antley-Bixler syndrome
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Index of inborn errors of metabolism
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| Description |
- Metabolism
- Enzymes and pathways: citric acid cycle
- pentose phosphate
- glycoproteins
- glycosaminoglycans
- phospholipid
- cholesterol and steroid
- sphingolipids
- eicosanoids
- amino acid
- urea cycle
- nucleotide
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| Disorders |
- Citric acid cycle and electron transport chain
- Glycoprotein
- Proteoglycan
- Fatty-acid
- Phospholipid
- Cholesterol and steroid
- Eicosanoid
- Amino acid
- Purine-pyrimidine
- Heme metabolism
- Symptoms and signs
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| Treatment |
|
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Index of hormones
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| Description |
- Glands
- Hormones
- thyroid
- mineralocorticoids
- Physiology
- Development
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| Disease |
- Diabetes
- Congenital
- Neoplasms and cancer
- Other
- Symptoms and signs
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| Treatment |
- Procedures
- Drugs
- calcium balance
- corticosteroids
- oral hypoglycemics
- pituitary and hypothalamic
- thyroid
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UpToDate Contents
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English Journal
- Recommendations for the management of autoinflammatory diseases.
- Ter Haar NM1, Oswald M2, Jeyaratnam J3, Anton J4, Barron KS5, Brogan PA6, Cantarini L7, Galeotti C8, Grateau G9, Hentgen V10, Hofer M11, Kallinich T12, Kone-Paut I13, Lachmann HJ14, Ozdogan H15, Ozen S16, Russo R17, Simon A18, Uziel Y19, Wouters C20, Feldman BM21, Vastert SJ22, Wulffraat NM22, Benseler SM23, Frenkel J3, Gattorno M24, Kuemmerle-Deschner JB2.
- Annals of the rheumatic diseases.Ann Rheum Dis.2015 Sep;74(9):1636-44. doi: 10.1136/annrheumdis-2015-207546. Epub 2015 Jun 24.
- : Autoinflammatory diseases are characterised by fever and systemic inflammation, with potentially serious complications. Owing to the rarity of these diseases, evidence-based guidelines are lacking. In 2012, the European project Single Hub and Access point for paediatric Rheumatology in Europe (SHA
- PMID 26109736
- Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center.
- Hernández-Rodríguez J1, Ruíz-Ortiz E2, Tomé A3, Espinosa G3, González-Roca E2, Mensa-Vilaró A2, Prieto-González S3, Espigol-Frigolé G3, Mensa J4, Cardellach F5, Grau JM5, Cid MC3, Yagüe J2, Aróstegui JI2, Cervera R3.
- Autoimmunity reviews.Autoimmun Rev.2015 Aug 20. pii: S1568-9972(15)00183-4. doi: 10.1016/j.autrev.2015.08.008. [Epub ahead of print]
- INTRODUCTION: Autoinflammatory diseases (AID) are usually diagnosed during the pediatric age. However, adult-onset disease or diagnosis during adulthood have been occasionally described.OBJECTIVES: To assess the clinical and genetic characteristics of adult patients diagnosed with an AID in an adult
- PMID 26299986
- Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results.
- Bianco AM1, Faletra F1, Vozzi D1, Girardelli M1, Knowles A1, Tommasini A1, Zauli G1, Marcuzzi A1.
- Molecular medicine reports.Mol Med Rep.2015 Aug 11. doi: 10.3892/mmr.2015.4215. [Epub ahead of print]
- Next-generation sequencing (NGS) has generated a large amount of sequence data with the requirement of frequent critical revisions of reported mutations. This innovative tool has proved to be effective in detecting pathogenic mutations; however, it requires a certain degree of experience to identify
- PMID 26300074
Japanese Journal
- 高IgD症候群(hyperimmunoglobulinemia D and periodic fever syndrome : HIDS) (特集 自己炎症症候群 : 稀な遺伝性疾患からリウマチ・アレルギー疾患へのメッセージ)
- 日本臨床免疫学会会誌 = Japanese journal of clinical immunology 34(5), 382-387, 2011-10-31
- NAID 10029898019
- 日本における高IgD症候群の診断と展望 (AYUMI 自己炎症性疾患--発熱性疾患における認知)
★リンクテーブル★
[★]
- 同
- hyperimmunoglobulinemia D syndrome
[★]
[★]
高グロブリン血症、グロブリン過剰血症
- 関
- hypergammaglobulinemia、hyperglobulinemia
[★]