前庭水管拡大症
WordNet
- become larger or bigger
- make larger; "She enlarged the flower beds"
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- a conduit that resembles a bridge but carries water over a valley
- relating to the sense of equilibrium
- larger than normal; "enlarged joints"
PrepTutorEJDIC
- …‘を'『大きくする』,拡大する / 大きくなる,広がる,ふえる
- (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
- 送水路,水路橋
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/09/28 19:56:05」(JST)
[Wiki en表示]
| Enlarged vestibular aqueduct |
| Classification and external resources |
| OMIM |
600791 |
Interior of right osseous labyrinth
Large vestibular aqueduct, also known as enlarged vestibular aqueduct syndrome, is a syndromic form of hearing loss, caused by enlargement of the vestibular aqueduct in the inner ear. It is one of the most common inner ear deformities which results in hearing loss during childhood.[1]
Contents
- 1 Symptoms
- 2 Pathology
- 3 References
- 4 External links
Symptoms[edit]
Although large vestibular aqueduct syndrome is a congenital condition, hearing loss may not be present from birth. Age of diagnosis ranges from infancy to adulthood, and symptoms include fluctuating and sometimes progressive sensorineural hearing loss and disequilibrium.[2]
Pathology[edit]
The vestibular aqueduct acts as a canal between the inner ear and the cranial cavity. Running through it is a tube called the endolymphatic duct, which normally carries a fluid called endolymph from the inner ear to the endolymphatic sac in the cranial cavity. When the endolymphatic duct and sac are larger than normal, as is the case in large vestibular aqueduct syndrome, endolymph is allowed to travel back from the endolympathic sac into the inner ear. This often results from abnormal or delayed development of the inner ear during childhood. Enlarged vestibular aqueduct syndrome is often comorbid with other inner ear development problems, such as cochlear deformities. Studies show that genetic defects such as Pendred syndrome are related to large vestibular aqueduct syndrome, and have connected the disorder specifically to a defect on chromosome 7q31.[1]
Hearing loss caused by large vestibular aqueduct syndrome is not inevitable, although people with the syndrome are at a much higher risk of developing hearing loss than the general population.
The cochlea and vestibule, viewed from above. (Aqueductus vestibuli labeled at bottom right
References[edit]
- ^ a b S. Usami, Satoko Abe, Mike D. Weston, Hideichi Shinkawa, Guy Van Camp and William J. Kimberling (1999), "Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations", Human Genetics 103: 188–192, doi:10.1007/s004390050933
- ^ Madden, Colm; Halsted, Mark; Benton, Corning; Greinwald, John; Choo, Daniel (July 2003), "Enlarged Vestibular Aqueduct Syndrome in the Pediatric Population", Otology & Neurotology 24: 625–632
External links[edit]
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Genetic disorder, protein biosynthesis: Transcription factor/coregulator deficiencies
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| (1) Basic domains |
1.2: Feingold syndrome · Saethre–Chotzen syndrome
1.3: Tietz syndrome
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(2) Zinc finger
DNA-binding domains |
2.1 (Intracellular receptor): Thyroid hormone resistance · Androgen insensitivity syndrome (PAIS, MAIS, CAIS) · Kennedy's disease · PHA1AD pseudohypoaldosteronism · Estrogen insensitivity syndrome · X-linked adrenal hypoplasia congenita · MODY 1 · Familial partial lipodystrophy 3 · SF1 XY gonadal dysgenesis
2.2: Barakat syndrome · Tricho–rhino–phalangeal syndrome
2.3: Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome · Denys–Drash syndrome · Duane-radial ray syndrome · MODY 7 · MRX 89 · Townes–Brocks syndrome · Acrocallosal syndrome · Myotonic dystrophy 2
2.5: Autoimmune polyendocrine syndrome type 1
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| (3) Helix-turn-helix domains |
3.1: ARX (Ohtahara syndrome, Lissencephaly X2) · HLXB9 (Currarino syndrome) · HOXD13 (SPD1 Synpolydactyly) · IPF1 (MODY 4) · LMX1B (Nail–patella syndrome) · MSX1 (Tooth and nail syndrome, OFC5) · PITX2 (Axenfeld syndrome 1) · POU4F3 (DFNA15) · POU3F4 (DFNX2) · ZEB1 (Posterior polymorphous corneal dystrophy 3, Fuchs' dystrophy 3) · ZEB2 (Mowat–Wilson syndrome)
3.2: PAX2 (Papillorenal syndrome) · PAX3 (Waardenburg syndrome 1&3) · PAX4 (MODY 9) · PAX6 (Gillespie syndrome, Coloboma of optic nerve) · PAX8 (Congenital hypothyroidism 2) · PAX9 (STHAG3)
3.3: FOXC1 (Axenfeld syndrome 3, Iridogoniodysgenesis, dominant type) · FOXC2 (Lymphedema–distichiasis syndrome) · FOXE1 (Bamforth–Lazarus syndrome) · FOXE3 (Anterior segment mesenchymal dysgenesis) · FOXF1 (ACD/MPV) · FOXI1 (Enlarged vestibular aqueduct) · FOXL2 (Premature ovarian failure 3) · FOXP3 (IPEX)
3.5: IRF6 (Van der Woude syndrome, Popliteal pterygium syndrome)
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(4) β-Scaffold factors
with minor groove contacts |
4.2: Hyperimmunoglobulin E syndrome
4.3: Holt–Oram syndrome · Li–Fraumeni syndrome · Ulnar–mammary syndrome
4.7: Campomelic dysplasia · MODY 3 · MODY 5 · SF1 (SRY XY gonadal dysgenesis, Premature ovarian failure 7) · SOX10 (Waardenburg syndrome 4c, Yemenite deaf-blind hypopigmentation syndrome)
4.11: Cleidocranial dysostosis
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| (0) Other transcription factors |
0.6: Kabuki syndrome
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| Ungrouped |
TCF4 (Pitt–Hopkins syndrome) · ZFP57 (TNDM1) · TP63 (Rapp–Hodgkin syndrome/Hay–Wells syndrome/Ectrodactyly–ectodermal dysplasia–cleft syndrome 3/Limb–mammary syndrome/OFC8)
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| Transcription coregulators |
coactivator: CREBBP (Rubinstein–Taybi syndrome)
corepressor: HR (Atrichia with papular lesions)
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see also transcription factors
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
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UpToDate Contents
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English Journal
- Identification of SLC26A4 mutations in patients with hearing loss and enlarged vestibular aqueduct using high-resolution melting curve analysis.
- Mercer S, Mutton P, Dahl HH.SourceMurdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, Melbourne, Australia.
- Genetic testing and molecular biomarkers.Genet Test Mol Biomarkers.2011 May;15(5):365-8. Epub 2011 Mar 2.
- Mutations in the SLC26A4 gene can cause both Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct, two conditions associated with sensorineural hearing loss. We analyzed the SLC26A4 gene in 44 hearing-impaired patients by nested polymerase chain reaction followed by high-resoluti
- PMID 21366435
- Low-tone air-bone gaps after endolymphatic sac surgery.
- Kitahara T, Horii A, Mishiro Y, Kawashima T, Imai T, Nishiike S, Inohara H.SourceDepartment of Otolaryngology-Head and Neck Surgery, Osaka University, School of Medicine, Osaka, Japan. tkitahara@ent.med.osaka-u.ac.jp
- Auris, nasus, larynx.Auris Nasus Larynx.2011 Apr;38(2):178-84. Epub 2010 Oct 20.
- OBJECTIVES: We detected chronic low-tone air-bone gaps (LTABGs) in some patients with Meniere's disease after endolymphatic sac surgery. The aim of the present study was to elucidate the mechanism of LTABGs after endolymphatic sac surgery.METHODS: We investigated 50 patients with Meniere's disease,
- PMID 20970268
Japanese Journal
- Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese : a large cohort study
- Miyagawa Maiko,Nishio Shin-ya,Usami Shin-ichi [他]
- Journal of human genetics 59(5), 262-268, 2014-05
- NAID 40020066511
- 現代医学の焦点(374)Pendred症候群研究の現況と展望
- 泰地 秀信,守本 倫子
- 日本耳鼻咽喉科学会会報 115(7), 676-681, 2012
- 小児では突発難聴を来す疾患が成人とは異なり, また突発性難聴に比べて頻度が高い. 小児突発難聴20例の臨床像を検討した. 小児の突発難聴では心因性難聴がかなり多いので, 他覚的聴力検査を組み合わせて診断を行うべきである. 純音聴力検査とDPOAEの結果に乖離がみられる場合は心因性難聴が強く疑われるが, 確定診断のためにはABR検査が必要である. ムンプスでは不顕性感染が30～40%にみられるため, …
- NAID 130002144557
Related Links
- 1 May 2010 ... Enlarged Vestibular Aqueduct Syndrome The vestibular aqueduct is a tiny canal shielded by the temporal bone, one of the densest bones in the body. It houses the endolymphatic duct and sac (see Label 15 on VEDA's Ear ...
★リンクテーブル★
[★]
- 英
- enlarged vestibular aqueduct enlarged vestibular aqueduct syndrome, large vestibular aqueduct LVA, large vestibular aqueduct syndrome
- 関
- ペンドレッド症候群
[show details]
疫学
病因
- 先天的・後天的に発症(E1)
- 先天性が一般的。内耳の発生異常である。前庭水管の発生異常。妊娠15週。(E1)
- SLC26A4(PDS)遺伝子の変異が原因(SOTO.170) → 前庭水管拡大を伴った非症候性難聴とPendred症候群は一連の症候群である可能性が高い(SOTO.170)
症状
- 幼少期から感音性難聴。ときにめまいを伴う。難聴は進行性、変動することがある。発症の契機はは頭部外傷。(SOTO.170)
診断・検査
- 側頭骨のCT(E1)。CTかMRI(SOTO.170)
- 画像所見(E1)：通常の水管径1mm以下なのに本症では1.5-2mm異常に拡大。(SOTO.170)
治療
[★]
- 関
- augment、augmentation、dilatation、dilate、dilated、dilation、distend、enlargement、escalate、escalation、expand、expansion、extend、extension、increase、increment、magnify
[★]
- 関
- vestibule、vestibulo
[★]
水管、水道
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