Hereditary hemorrhagic telangiectasia, kana HHT, inonzi genetic disorder inobata mishonga yeropa. Iyo inonziwo Osler-Weber-Rendu syndrome, HHT inoguma zviratidzo uye kuratidzwa kunogona kusiyanisa zvakawanda kubva kumunhu kumunhu.
Zvinogona zvakare kuva neHHT uye kusaziva kuti iwe unayo, uye vamwe vanhu vanotanga kuonekwa mushure mokunge vakura matambudziko makuru nekuda kweHHT.
Inenge 90 muzana yevaya vane HHT vacharamba vachiita nezvenyerededs, asi zvinetso zvakanyanya zvakaomawo zvakare. Zvinetso zvakakomba zvinotaridzika pane chikamu pane kuti mishonga yeropa isingawaniki inowanikwa uye inosanganisira kubuda mukati uye kupera, asi HHT inogonawo kunyarara kwemakore.
Chii chinonzi HHT?
HHT inzvimbo yakagarwa nhaka iyo inobata mishonga yako yeropa nenzira dzinogona kuguma nekusaremara kunogona kubva kune asina mhosva zvikuru kutyisa upenyu kana iwe uchitora hupenyu hwose-kutarisa kwemaonero. Kunyange zvazvo zviratidzo uye zviratidzo zvinogona kunge zviripo pakutanga, zvinowanzoitika kuti mamwe matambudziko akakomba haagoni kukura kusvikira apfuura makore makumi matatu.
Kune miviri miviri mikuru yekushungurudzika kwemidyo yeropa inogona kukanganisa vanhu vane HHT:
- Telangiectasias
- Arteriovenous malformations, kana AVMs.
Telangiectasia
Izwi rokuti telangiectasia rinoreva boka remikana miduku yeropa (capillaries uye zvinyorwa zviduku) zvakave zvisinganzwisisiki.
Kunyange zvazvo inogona kuumba mumativi ose akasiyana emuviri, tereangiectasias inonyatsoonekwa, uye inowanzotorwa seinoonekwa pedyo nechokumusoro kweganda, kazhinji pachiso kana pahudyu, dzimwe nguva inonzi "sevhunyi yemasipire," kana kuti "kuputsika kwemitsipa."
Izvo zvinogona kuonekwa pamakumbo emumhangura asina kuchena kana michina, yakadai mumukati pamatama, gum, nemiromo.
Izvo zvakatsvuka kana kuti zvinoputika mumuchu, uye zvinotaridzika semhepo inoputika, tsvimbo dzomucheka, kana mitambo yemagetsi.
Impact uye Mutungamiri weTelangiectasia
Telangiectasia yeganda uye mucous membrane (ganda rinopisa remuromo nemiromo) inowanzoonekwa pakati pevarwere vane HHT. I-telangiectasias inowanzoitika apo munhu wacho achiri muduku uye anofambira mberi nezera. Kushambadzira kunogona kuitika kubva kune nzvimbo idzi, asi kazhinji kazhinji zviri nyore uye zviri nyore kutongwa. Laser ablation therapy dzimwe nguva inoshandiswa kana ichidiwa.
Telangiectasias yemhino-mumucheka wemhepo inoyerera-ndiyo chikonzero nei nosebleeds inowanzoonekwa nevanhu vane HHT. Vamwe 90 muzana yevanhu vane HHT vanogara vachidzokorora nosebleeds. Nosebleeds inogona kuva yanyoro kana yakaoma uye yakakurumidza, inotungamirira kuanemia kana isiri kudzorwa. Vanhu vazhinji vane HHT vanobudirira nosebleeds vasati vava nemakore makumi maviri, asi nguva yekutanga inogona kusiyanisa zvishoma, sezvinokwanisa kukwirira kwemamiriro acho ezvinhu.
Muchikamu chepamuviri, telangiectasias inowanika munenge kusvika 15 kusvika ku30 muzana yevanhu vane HHT. Zvinogona kuva chitubu chekubuda ropa mukati, zvisinei, izvi zvinowanzoitika zvisati zvava nemakore makumi matatu. Mushonga unosiyana zvichienderana nekuoma kwekubuda ropa uye murwere mumwe nomumwe. Iron supplementation uye kuwedzerwa ropa sezvinodiwa kungave chikamu cherongwa; estrogen-progesterone therapy uye laser therapy inogona kushandiswa kuderedza kuoma kweropa uye kudiwa kwekuwedzerwa ropa.
Arteriovenous malformations (AVM)
Izvozvo zvinopesana, kana ma AVM, zvinomiririra rumwe rudzi rwekusavhiringidza kwemitsipa yeropa, kazhinji inowanikwa munharaunda yenheyo, mapapu, kana chiropa. Vanogona kunge varipo pakuberekwa uye / kana kukura kwenguva.
AVM dzinofungidzirwa kusagadzikana nokuti dzinopesana kurongeka kwakarongeka kwokuti mitsipa yeropa inowanzoitevera kuti inotora okisijeni kumatumbu uye inotakura carbon dioxide kumapapu, kuti ibudiswe: ropa reokisijeni rinowanzobva pamapapu nemwoyo, kunze kweaorama, kusvika kune chikuru pane mishonga, kumatambudziko mashoma e arterioles uye kunyange arterioles maduku pakupedzisira kusvika kumaduku maduku maduku emakumbo; ipapo, de-oxygenated blood inopinda mumavumbi maduku kusvika kumavhukira maduku kusvika mumavhukuro makuru kusvika pakupedzisira kune mitsipa mikuru, seyepamusoro vena cava, uye kumashure pamwoyo, nezvimwewo.
Kusiyana neizvi, apo AVM inokura, pane "zvisinga" zvisingasviki midzi yeropa inobatanidza mishonga yemavheya, mune imwe chikamu chemuviri, uye izvi zvinogona kuvhiringidza ropa rinowanikwa nekuparadzirwa kwemhepo. Zvinenge sokuti gwara guru rinoputika rinopinda mukana wokupaka, ipapo motokari dzinofamba-famba kwekanguva vasati vadzokera kune imwe nzvimbo, zvichida kutungamirirwa nenzira isina kururama.
Impact uye Kutungamira kweVVM
Muvanhu vane HHT, AVMs inogona kuitika mumapapu, muuropi uye pakati pehutachiona, uye kuwedzerwa kweropa. VVM vanogona kuputika kuti vaite ropa risina kujairika, rinotungamirira pakurohwa, mukati mekubuda ropa, uye / kana chirwere chinokonzerwa nehutachiona (husina kukwana masero matsvuku eropa, zvichikonzera kuneta, kushaya simba, nezvimwe zviratidzo).
Apo ma AVM anoita mumapapu kune vanhu vane HHT, mamiriro acho haafaniri kutora kurapwa kusvikira munhu ane makore makumi matatu kana kupfuura. Munhu anogona kuva neAVM mumapapu avo uye asingazvizivi nokuti havana zviratidzo. Zvimwewo, vanhu vane mapapu eAppm vanogona kukura nekubuda ropa kukuru, vachikwira ropa. Mavhinga eAVM anogona kukonzera kukuvadza zvinyararire, umo oxygen kutakura mumuviri iri pasi-par, uye munhu anonzwa sokuti haakwanisi kuwana mweya wakakwana paanovata kurara usiku (chiratidzo ichi chinowanzobva pamusana neHHT isingabatanidzi mamiriro ezvinhu, akadai sekushaya mwoyo, zvisinei). Chimwe chinhu chinonzi chirwere chinotyisa, kana kuti ropa rinotanga mumapapu asi kuenda kune uropi, zvinogona kukonzera chirwere kune mumwe munhu ane HHT ane AVM mumapapu.
AVM mumapapu anogona kurapwa nechimwe chinhu chinonzi embolization, umo kubviswa kwechinangwa kunogadzirwa mumidziyo yeropa isingaenzaniswi, kana kuongororwa, kana kunogona kuve nekubatanidzwa kwezvinhu zvose zviri zviviri.
Varwere vane mapapu AVM vanofanira kugamuchira chifukidzo cheC CT chekucherechedza kukura kana kugadzirisazve nzvimbo dzinozivikanwa dzekurudzira uye kuona ma AVM matsva. Kuongorora maAVM emapapu kunobvunzwawo vasati vava nepamuviri nokuti kuchinja kune hutano hwemaamai iyo inowanikwa chikamu chepamuviri kunogona kukanganisa AVM.
Sezvakawanda makumi manomwe kubva muzana zvevanhu vane HHT vanovaka AVM muropa. Kakawanda ma AVM aya anonyarara uye achangotaridzika pakarepo kana scan iri kuitwa nokuda kweimwe chikonzero. IAVM muropa inewo unogona kuva yakakomba mune dzimwe mamiriro ezvinhu, zvisinei, uye inogona kutungamirira kumatambudziko epakati uye matambudziko nemwoyo, uye kazhinji kashoma, chiropa chinokundikana chinoda kuiswa.
VVM mune vanhu vane HHT vanokonzera matambudziko muuropi uye nehutachiona hwehutano mune anenge 10-15 muzana chete ematambudziko, uye zvinetso izvi zvinowanzosimuka pakati pevanhu vakwegura. Zvakare, zvisinei, kune chikonzero chekuoma, uko uropi uye AVMs emumumumvuri zvinogona kukonzera kuparadza kwemvura kana zvikapera.
Ndiani Anobatwa?
HHT chirwere chemazwi chinotamirwa kubva kuvabereki kune vana nenzira yakakosha, saka munhu wose anogona kugamuchira dambudziko racho, asi harisi nyore. Izvo zvinowanzoitika kune vose varume nevakadzi.
Kakawanda, inofungidzirwa kuti inowanikwa munenge 1 mu8000 vanhu, asi zvichienderana nehutano hwako uye maitiro ekuberekwa, zviyero zvako zvingave zvakakwirira kana zvishoma. Somuenzaniso, zvakabudiswa zviyero zvehuwandu hwevanhu veAfro-Caribbean madzitateguru muNetherlands Antilles (zvitsuwa zveAruba, Bonaire, neCuraçao) dzine mamwe mazinga akakwirira, pamwe nekufungidzirwa kune 1 mu1331 vanhu, nechokumusoro kwekumabvazuva kweEngland Mitengo inofungidzirwa pa1 mune 39.216.
Kuziva
ICuraçao chirongwa chekuongororwa, chinonzi zita rechechi yeCaribbean, rinoreva chirevo chinogona kushandiswa kugadzirisa mukana wokuva neHHT. Maererano nemitemo, kuongororwa kweHHT kunotsanangurwa kana zvikamu zvitatu zvinotevera zviripo, zvichibvira kana kuti zvikafungidzirwa kana 2 varipo, uye zvisingaiti kana vashoma varipo 2:
- Zvisinganzwisisiki, zvinogara zvichibuda mumhino
- Telangiectasias: multiple, spidery vein patches pazvivara zvemasiti-miromo, mukati memuromo, paminwe uye pamhino
- Inonzi telangiectasias uye kusagadzikana: utachiona telangiectasias (kana kuti pasina kubuda ropa) uye arteriovenous malformations (mapapu, chiropa, uropi uye musipinha)
- Nhoroondo yemhuri: yekutanga-degree yakaenzana nehutano hwakanaka hwetelitectasia
Aina
Maererano nekuongorora kwe 2018 panyaya iyi neKroon uye vashandi pamwe navo, 5 maitiro eHHT uye rimwechete rejubheri polyposis syndrome neHHT inozivikanwa.
Nenzira, 2 mikuru mikuru yakatsanangurwa: Rudzi rweI rinosanganiswa nemutsiriro mune geni rinonzi endoglin gene. Rudzi urwu rweHHT runowanzova nehuwandu hwemaAVM mumapapu kana AVMs. Rudzi rwechipiri runobatanidza nemutenho mune geni rinonzi activin receptor-like kinase-1 gene (ACVRL1). Mhando iyi ine mitengo yakaderera yeApmunary and brain AVMs pane HHT1, asi chikwata chapamusoro cheAVM muropa.
Kuchinja kwemugumo mumagumo ekugadzirwa kwechromosome 9 (HHT type 1) uye mu ACVRL1 geni pamusoro pechromosome 12 (HHT rudzi rwechipiri) zvose zvinosanganiswa neHHT. Aya mazamu anotendwa kuti anokosha mune kuti muviri unovandudza sei uye unogadzirisa midzi yayo yeropa. Hazvisi nyore semasero emaviri, zvisinei, mune izvozvi hazvisi zvose zvinokonzerwa neHHT zvinomuka kubva kuchinja kumwe chete. Mhuri dzakawanda dzine HHT dzine shanduko yakasiyana-siyana. Maererano nekudzidza kwaPrgoda nevamwe vaaishanda navo, iye zvino vangangodaro, maitiro 168 akasiyana-siyana mumagumo ekupedzisira uye 138 maitiro akasiyana-siyana eAACVRL1 akanga ataurwa.
Mukuwedzera kune endoglin uye ACVRL1, mamwe mazita emagetsi akabatanidzwa neHHT. Kuchinja kwemuviri mu SMAD4 / MADH4 geni zvakabatanidzwa nehutano huri pamwe hwechimwe chinhu chinonzi mwana wevana polyposis neHHT. Juvenile polyposis syndrome, kana JPS, inotora nhaka inowanikwa nekuvapo kwekusava nekenza kukura, kana mapuropa, mumatumbo emimba , kazhinji mumutumbi. Kukura kunogona kuitikawo mukati mudumbu, duku mudumbu uye rectum. Saka, mune dzimwe nguva, vanhu vane zvose HHT uye polyposis syndrome, uye izvi zvinoratidzika kunge zvine chokuita ne SMAD4 / MADH4 kuchinja kwezvinhu.
Kuongorora nekudzivirira
Kunze kwekurapwa kwema telangiectasias neAVM sezvazvinenge zvichidiwa, zvinokosha kuti vanhu vane HHT vaongororwe, zvimwe zvakanyanya kupfuura vamwe. Chiremba Grand'Maison akapedza kubvunzurudzwa kwakakwana kweHHT muna 2009 uye akarongedza hurumende yakawanda yekuongorora:
Gore negore, panofanira kuve nekuongororwa kwema telangiectasias matsva, nosebleeds, kubuda kwepamuviri, zviratidzo zvechifuva zvakadai sokupererwa kwepfufu kana kukonzera ropa, uye zviratidzo zvehutano. Kuchengeta ropa muchigaro kunofanira kuitwawo gore negore, sekufananidzira kwakazara ropa kuwona anemia.
Izvo zvakakurudzirwa kuti makore ose emakore pahuduku hutachiona oximetry hunoitwa kuvhara mapapu emapapu, kuteverwa nekufungidzira kana mazinga e oxygen muropa ari pasi. Pazera remakore gumi, kubatwa kwepfungwa yemwoyo kunokurudzirwa kutarisa maAVM akakomba anogona kuchinja kukwanisa kwemwoyo nemapapu kuita mabasa avo.
Kune avo vane AVM dzakagadzirirwa mumapapu, kurongedzwa kunoratidzwa kunowanzoitwa kakawanda. Chirwere chekuongorora maAVM hachina kunyanya kukoshesa asi chinogona kuitwa, asi ubongo hweMRI hunobvisa maAVM zvakakomba hunosimbiswa pane imwe nguva mushure mekuonekwa kweHHT.
Investigational Treatments
Bevacizumab yakashandiswa sehosha yekenza nokuti inorara nenyota, kana kuti anti-angiogenic, therapy; inodzivisa kukura kwemidziyo mutsva yeropa, uye izvi zvinosanganisira midziyo yeropa yakazara nemidziyo yeropa inopa maronda.
Mune chiitiko chechangobva kuwanikwa na Steineger uye vashandi pamwe navo, 33 varwere vane HHT vakabatanidzwa kuti vaongorore migumisiro yevavacizumab kune vanhu vane mapapiro telangiectasia. Paavhareji, murwere mumwe nomumwe aiva neine intranasal injection yevavacizumab (rang, 1-16), uye yakatarwa kwevhareji yemakore anenge matatu muchidzidzo chino. Vane varwere havana kuratidza kuvandudza mushure mokurapa. Varwere vane gumi nomumwe vakaratidza kutanga kuwedzera (zviratidzo zvishoma pasi uye kusanyanya kudikanwa kwekuwedzerwa ropa), asi kurapwa kwakaguma kusati kwapera kugadzira nokuti mamiriro acho akawedzera zvishoma nezvishoma pasinei nekudzoka kwejojo. Vatori gumi nevaviri vakaenderera mberi vachiva nemhinduro yakanaka pamishonga pakuguma kwekudzidza.
Hapana migumisiro yakaipa yemunharaunda yakaonekwa, asi mumwe murwere akagadzirwa osteonecrosis (chirwere chepfupa chinogona kugadzirisa basa remuviri) mumabvi maviri maviri panguva yekurapa. Vanyori vakapedzisa kuti injini inonzi intranasal bevacizumab inobatsira kurapwa kwemazana emakero akaenzana uye akaoma eHHT-anobatana nosebleeds. Nguva yemigumisiro yekurapa yakasiyana kubva kune varwere kusvika kune murwere, asi, uye kukura kwekumirisana nemishonga kwakaratidzika kunge yakajairika.
Kuongorora
Kuchengetedza kwechirwere ichi chiri nzvimbo inoshanduka. Munguva ichangopfuura Kroon nevamwe vashandi vakarayira kuti kuongorora kwakarongeka kuitwe nevarwere vane chokwadi cheHHT. Vanokurudzira zvose kliniki uye genetic kuongorora kuonekwa kwevarwere vanofungidzirwa neHHT kuti vimbise kugadziriswa uye kudzivirira zvinetso zvinobatanidzwa neHHT.
> Sources:
> Grand'Maison A. Hereditary hemorrhagic telangiectasia. CMAJ. 2009; 180 (8): 833-835.
> Kroon S, Snijder RJ, Faughnan ME, et al. Kuongororongwa kwakarongeka mune imwe nyika inotapira tereangiectasia: kuongorora. Curr Opin Pulm Med . Feb 20; 2018. ini: 10.1097 / MCP.0000000000000472. [Epub mberi kwekudhinda].
> Prigoda NL, Savas S, Abdalla SA, et al. Hereditary haemorrhagic telangiectasia: kuchinja mutende, kuedza kuedza kuongorora uye kuchinja kwechinangwa. J Med Genet. 2006; 43 (9): 722-728.
> Steineger J, Osnes T, Heimdal K, et al. Nenguva yakareba chiitiko ne intranasal bevacizumab therapy. Laryngoscope. 2018; Feb 22. chii: 10.1002 / lary.27147. [Epub mberi kwekudhinda].