「利用者:Ctenidium28/sandbox」の版間の差分
削除された内容 追加された内容
Ctenidium28 (会話 | 投稿記録) 編集の要約なし タグ: ビジュアルエディター モバイル編集 モバイルウェブ編集 |
Ctenidium28 (会話 | 投稿記録) 編集の要約なし |
||
16行目:
'''ウルバッハ・ビーテ病''' (ウルバッハ・ビーテびょう、[[英語|英]]: Urbach–Wiethe diseases)は非常に稀な[[潜性]][[遺伝疾患]]で、症例はこの疾患が初めて報告されてから現在に至るまでおよそ400件程度である<ref>{{cite news| url = https://www.washingtonpost.com/news/speaking-of-science/wp/2015/01/20/meet-the-woman-who-cant-feel-fear/?tid=hpModule_9d3add6c-8a79-11e2-98d9-3012c1cd8d1e&hpid=z11| title = Meet the woman who can't feel fear - The Washington Post| newspaper = [[The Washington Post]]}}</ref><ref name=DiGiandomenico-etal-2006>{{cite journal |author1=DiGiandomenico S. |author2=Masi R. |author3=Cassandrini D. |author4=El-Hachem M. |author5=DeVito R. |author6=Bruno C. |author7=Santorelli F.M. | year = 2006 | title = Lipoid proteinosis: case report and review of the literature | journal = Acta Otorhinolaryngol Ital | volume = 26 | issue = 3 | pages = 162–7 | pmid = 17063986 | pmc = 2639960 }}</ref><ref name="Andrews">{{cite book|和書 |author1=James, William D. |author2=Berger, Timothy G. |title=Andrews' Diseases of the Skin: clinical Dermatology |publisher=Saunders Elsevier |year=2006 |isbn=978-0-7216-2921-6}}</ref>。1908年に初めて症例が確認され<ref name="Caro-1978">{{cite journal | author = Caro I | year = 1978 | title = Lipoid proteinosis | journal = International Journal of Dermatology | volume = 17 | issue = 5 | pages = 388–93 | doi = 10.1111/ijd.1978.17.5.388 | pmid = 77850 | s2cid = 43544386 }}</ref><ref name="isbn0-7817-3742-7">{{cite book |author1=Lever, Walter F. |author2=Elder, David A. |title=Lever's histopathology of the skin |publisher=[[Lippincott Williams & Wilkins]] |___location=Hagerstwon, MD |year=2005 |pages=440 |isbn=978-0-7817-3742-5 }}</ref><ref>{{cite journal | author =Siebenmann F. | year = 1908 | title = Über Mitbeteilingung der Schleimhaut bei allgemeiner Hyperkeratose der Haut | journal = Arch Laryngol | volume = 20 | pages = 101–109 }}</ref>、1929年に[[オーストリア]]のエーリヒ・ウルバッハとカミーロ・ビーテによって正式に報告された。<ref>{{WhoNamedIt|synd|924}}</ref><ref>{{cite journal | author = Urbach E, Wiethe C | year = 1929 | title = Lipoidosis cutis et mucosae | journal = Virchows Archiv für pathologische Anatomie und Physiologie und für klinische Medizin | volume = 273 | issue = 2 | pages = 285–319 | doi = 10.1007/bf02158983 | s2cid = 42016927 | doi-access = free }}</ref>
症状は個人差が大きく、声のかすれ、病斑や瘢痕、皮膚の[[自然治癒力]]の低下、肌の乾燥やしわ、瞼周辺の[[丘疹]]などが確認されている<ref name=Caro-1978/><ref name=Hamada-2002-C&ED>{{Cite journal | last1 = Hamada | first1 = T. | title = Lipoid proteinosis | journal = Clinical and Experimental Dermatology | volume = 27 | issue = 8 | pages = 624–629 | year = 2002 | doi = 10.1046/j.1365-2230.2002.01143.x| pmid = 12472532 | s2cid = 28344373 }}</ref><ref name=Appenzeller-etal-2006-Neuroimaging16/>。これらは肌や粘膜の肥厚によって引き起こされる。他にも[[側頭葉]]の脳組織の[[硬化]]により[[てんかん]]や精神神経系の異常をきたす場合もある<ref name = Staut-1998>{{Cite journal | last1 = Staut | first1 = C. C. V. | last2 = Naidich | first2 = T. P. | title = Urbach-Wiethe Disease(Lipoid Proteinosis) | journal = Pediatric Neurosurgery | volume = 28 | issue = 4 | pages = 212–214 | year = 1998 | pmid = 9732251 | doi = 10.1159/000028653| s2cid = 46862405 }}</ref>。一般的には、命に関わったり、余命が短くなるようなことはないとされている<ref name=Appenzeller-etal-2006-Neuroimaging16>{{Cite journal | title = Amygdalae Calcifications Associated with Disease Duration in Lipoid Proteinosis | journal = Journal of Neuroimaging | volume = 16 | issue = 2 | pages = 154–156 | year = 2006 | pmid = 16629738 | doi = 10.1111/j.1552-6569.2006.00018.x| last1 = Appenzeller | first1 = S | last2 = Chaloult | first2 = E | last3 = Velho | first3 = P | last4 = De Souza | first4 = E. M. | last5 = Araújo | first5 = V. Z. | last6 = Cendes | first6 = F | last7 = Li | first7 = L. M. | s2cid = 30567332 }}</ref>。
ウルバッハ・ビーテ病は常染色体潜性であるため、疾患の保因者であっても症状が現れないことがある。この病気は[[1番染色体 (ヒト)|1番染色体]]の1q21に位置する[[細胞外マトリックス]]タンパク質1(ECM1)遺伝子の機能喪失型[[突然変異]]によって引き起こされる<ref name="Hamada-etal-2002">{{cite journal|author1=Hamada T.|year=2002|title=Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1)|journal=Human Molecular Genetics|volume=11|issue=7|pages=833–40|doi=10.1093/hmg/11.7.833|pmid=11929856|author2=McLean WHI|author3=Ramsay M.|author4=Ashton GHS|author5=Nanda A.|display-authors=|doi-access=}}</ref>。皮膚に関する症状は主に[[真皮]]における{{仮リンク|ヒアリン|en|Hyaline}}の分泌や皮膚の基底膜の肥厚が要因となる<ref name="Hamada-2002-C&ED" />。診断は特に瞼周辺の丘疹といった臨床症状によってなされる。ECM1遺伝子内の突然変異が発見されたことで、最初の臨床診断を[[遺伝子診断]]で確認できるようになった。また、PAS染色や[[免疫組織化学染色]](IHC)も診断に使用されることがある<ref name="Caro-1978" /><ref name="Chan-etal-2007">{{cite journal |author1=Chan I. |author2=Liu L. |author3=Hamada T. |author4=Sethuraman G. |author5=McGrath J.A. | year = 2007 | title = The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1 | journal = Experimental Dermatology | volume = 16 | issue = 11 | pages = 881–90 | doi = 10.1111/j.1600-0625.2007.00608.x | pmid = 17927570 | doi-access = free }}</ref>。
29行目:
=== 神経系 ===
ウルバッハ・ビーテ病の明らかな症状は皮膚に関する変化であるが、患者の多くは神経系にも症状が現れていることが多い。患者のうち、およそ50～75%には内側[[側頭葉]]における
ウルバッハ・ビーテ病の明らかな症状は皮膚に関する変化であるが、患者の多くは神経系にも症状が現れていることが多い。およそ50～75％の患者には側頭葉の内側にある[[扁桃体]]の[[石灰化]]が確認されている<ref>{{cite journal|author1=Hurlemann R.|year=2007|title=Amygdala control of emotion-induced forgetting and remembering: Evidence from Urbach-Wiethe disease|journal=Neuropsychologia|volume=45|issue=5|pages=877–84|doi=10.1016/j.neuropsychologia.2006.08.027|hdl=21.11116/0000-0001-B8EF-3|pmid=17027866|author2=Wagner M.|author3=Hawellek B.|author4=Reich H.|author5=Pieperhoff P.|author6=Amunts K.|s2cid=4101263|hdl-access=free}}</ref>。この石灰化は扁桃体の血管に[[カルシウム]]が蓄積することから始まり、時間の経過とともに血管が硬化し、その一部の組織が死滅して病変を起こすことで引き起こされる。
Although the dermatological changes are the most obvious symptoms of Urbach–Wiethe disease, many patients also have neurological symptoms. About 50–75% of the diagnosed cases of Urbach–Wiethe disease also show bilateral symmetrical [[calcification]]s on the medial [[temporal lobe]]s. These calcifications often affect the [[amygdala]] and the periamygdaloid [[gyrus|gyri]]. The amygdala is thought to be involved in processing biologically relevant stimuli and in emotional long-term memory, particularly those associated with [[fear]], and both [[Positron emission tomography|PET]] and [[Magnetic resonance imaging|MRI]] scans have shown a correlation between amygdala activation and episodic memory for strongly emotional stimuli. Therefore, Urbach–Wiethe disease patients with calcifications and [[lesions]] in these regions may suffer impairments in these systems. ここからThese calcifications are the result of a buildup of [[calcium]] deposits in the [[blood vessel]]s within this brain region. Over time, these vessels [[Atherosclerosis|harden]] and the tissue they are a part of dies, causing lesions. The amount of calcification is often related to disease duration.<ref name="Appenzeller-etal-2006-Neuroimaging16" /> The true prevalence of these calcifications is difficult to accurately state as not all patients undergo [[neuroimaging|brain imaging]]. Some patients also exhibit [[epilepsy]] and neuropsychiatric abnormalities. Epilepsy symptoms could begin with light anxiety attacks and can be controlled with anti-epileptic medications.<ref name="Appenzeller-etal-2006-Neuroimaging16" /> Other patients present with symptoms similar to schizophrenia while some suffer from mood, [[anxiety]], and psychotic disorders.<ref name="Thornton-etal-2008" /><ref name="Cinaz-1993">{{cite journal |author1=Cinaz P. |author2=Guvenir T. |author3=Gonlusen G. | year = 1993 | title = Lipoid proteinosis: Urbach-Wiethe disease | journal = Acta Paediatrica | volume = 82 | issue = 11 | pages = 892–3 | doi = 10.1111/j.1651-2227.1993.tb12590.x | pmid = 8241657 | s2cid = 31104438 }}</ref> [[File:Chromosome 1.svg|frame|Chromosome 1, where the ECM1 mutation occurs at 1[[Centromere#Position|q]]21]]▼
▲Although the dermatological changes are the most obvious symptoms of Urbach–Wiethe disease, many patients also have neurological symptoms. About 50–75% of the diagnosed cases of Urbach–Wiethe disease also show bilateral symmetrical [[calcification]]s on the medial [[temporal lobe]]s. These calcifications often affect the [[amygdala]] and the periamygdaloid [[gyrus|gyri]]. The amygdala is thought to be involved in processing biologically relevant stimuli and in emotional long-term memory, particularly those associated with [[fear]], and both [[Positron emission tomography|PET]] and [[Magnetic resonance imaging|MRI]] scans have shown a correlation between amygdala activation and episodic memory for strongly emotional stimuli. Therefore, Urbach–Wiethe disease patients with calcifications and [[lesions]] in these regions may suffer impairments in these systems.
== 原因 ==
| |||