高グロブリン血症、グロブリン過剰血症
- 関
- hypergammaglobulinemia、hyperglobulinemia
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/08/18 06:24:23」(JST)
[Wiki en表示]
| Hyperimmunoglobulinemia D with recurrent fever |
|
Mevalonic acid
|
| Classification and external resources |
| OMIM |
260920 |
| DiseasesDB |
30161 |
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
Features
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]
Cause
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]
Pathophysiology
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]
Therapy
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 also
- List of cutaneous conditions
References
- ^ 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 links
- HIDSNet homepage
- SAID Support - Hyper-IgD Syndrome
|
Inborn error of steroid metabolism
|
|
| Mevalonate pathway |
- Hyper-IgD syndrome
- Mevalonate kinase deficiency
|
|
| 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
|
|
| 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
|
|
| Sex steroid |
| To androgens |
- 17-beta-hydroxysteroid dehydrogenase deficiency
- 5-alpha-reductase deficiency
- Pseudovaginal perineoscrotal hypospadias
|
|
| To estrogens |
- Aromatase deficiency
- Aromatase excess syndrome
|
|
|
| Other |
- X-linked ichthyosis
- Antley-Bixler syndrome
|
|
|
|
Index of inborn errors of metabolism
|
|
| Description |
- Metabolism
- Enzymes and pathways: citric acid cycle
- pentose phosphate
- glycoproteins
- glycosaminoglycans
- phospholipid
- cholesterol and steroid
- sphingolipids
- eicosanoids
- amino acid
- urea cycle
- nucleotide
|
|
| 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
|
|
| Treatment |
|
|
Index of hormones
|
|
| Description |
- Glands
- Hormones
- thyroid
- mineralocorticoids
- Physiology
- Development
|
|
| Disease |
- Diabetes
- Congenital
- Neoplasms and cancer
- Other
- Symptoms and signs
|
|
| Treatment |
- Procedures
- Drugs
- calcium balance
- corticosteroids
- oral hypoglycemics
- pituitary and hypothalamic
- thyroid
|
|
|
UpToDate Contents
全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.
English Journal
- Multiple Macroenzymes in a Patient With AIDS: Diagnosis Using Ultrafiltration.
- Wyness SP1, Yee MA2, La'ulu SL1, Tosiello L3, Straseski JA4.
- American journal of clinical pathology.Am J Clin Pathol.2014 Aug;142(2):266-8. doi: 10.1309/AJCPWA9QHR9WHPNA.
- OBJECTIVES: Multiple immunoglobulin-bound enzymes (macroenzymes) are reported for the first time in an individual with AIDS. Possible causes and suitable methods of detection are addressed.METHODS: An asymptomatic man with a history of AIDS with hypergammaglobulinemia and elevated creatine kinase, a
- PMID 25015871
- [Unusual presentation of juvenile idiopathic arthritis and autoimmune hepatitis.]
- Moreno Prieto M1, Carbonero Celis MJ2, Cuadrado Caballero MC2.
- Anales de pediatria (Barcelona, Spain : 2003).An Pediatr (Barc).2014 Jul 24. pii: S1695-4033(14)00298-7. doi: 10.1016/j.anpedi.2014.05.009. [Epub ahead of print]
- The coexistence of autoimmune hepatitis and juvenile idiopathic arthritis is very rare. This is the case of an 18 month old female patient whose first sign of disease was torticollis due to an underlying atlanto-axial subluxation. Three months later, bilateral knee arthritis developed and she was di
- PMID 25066796
- Vaccine-Associated Varicella and Rubella Infections In Severe Combined Immunodeficiency with Isolated CD4 Lymphocytopenia and Mutations in IL7R Detected by Tandem Whole Exome Sequencing and Chromosomal Microarray.
- Bayer D1, Martinez C, Sorte H, Forbes L, Demmler-Harrison G, Hanson I, Pearson N, Noroski L, Bellini W, Leduc M, Yang Y, Eng C, Patel A, Rodningen O, Muzny D, Gibbs R, Campell I, Baker M, Zhang V, Lupski J, Orange J, Seeborg F, Stray-Pedersen A.
- Clinical and experimental immunology.Clin Exp Immunol.2014 Jul 21. doi: 10.1111/cei.12421. [Epub ahead of print]
- In areas without newborn screening for severe combined immunodeficiency (SCID), disease-defining infections may lead to diagnosis, and not identified prior to the first year of life. We describe a female infant who presented with disseminated vaccine-acquired varicella (VZV) and vaccine-acquired r
- PMID 25046553
Japanese Journal
- 酒井 秀政,平家 俊男
- 日本臨床免疫学会会誌 = Japanese journal of clinical immunology 34(5), 382-387, 2011-10-31
- 高IgD症候群は，乳児期早期に炎症反応高値の不明熱疾患として発症する自己炎症性疾患である．その原因はコレステロール代謝に関わるメバロン酸キナーゼの欠乏であることから，体内の多くの細胞がその欠乏を共有することになり，その臨床像は他の自己炎症性疾患と比して多様である．しかしながら，腹部症状や皮疹，関節炎などといった多くの症状は他の自己炎症性疾患群と共通のものであることから，臨床の場で即座に診断する …
- 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)
- Unilateral and distal subcorneal pustular dermatosis and persistent polyclonal immunoglobulin M hyperimmunoglobulinemia
- URBINA Francisco,SUDY Emilio
- Journal of dermatology 37(10), 907-909, 2010-10-01
- NAID 10027572425
Related Links
- 2 Aug 2011 ... Hyperimmunoglobulinemia E (Job) Syndrome. Hyperimmunoglobulin E syndrome (HIES) was first described as Job syndrome in 1966, when 2 patients were reported with eczematous dermatitis, recurrent staphylococcal ...
- hyperimmunoglobulinemia /hy·per·im·mu·no·glob·u·lin·emia/ (-im″u-no-glob″u-l ĭ-ne´me-ah) abnormally high levels of immunoglobulins in the serum. hyperimmunoglobulinemia [hi″per-im″u-no-glob″u-lin-e´me-ah]. abnormally high levels ...
Related Pictures
★リンクテーブル★
[★]
- 英
- hyperglobulinemia, hyperimmunoglobulinemia
- 同
- グロブリン過剰血症
- 関
- 単クローン性免疫グロブリン血症
[★]
- 英
- hyperglobulinemia、hyperimmunoglobulinemia
- 関
- 高ガンマグロブリン血症、高グロブリン血症
[★]
高グロブリン血症、グロブリン過剰血症
- 関
- hyperimmunoglobulinemia
[★]
多クローン性高免疫グロブリン血症
[★]
単クローン性免疫グロブリン血症