Ese uzi indwara ya Erdheim-Chester? Reka tuvuge kuri iyi ndwara idasanzwe!

Ese wigeze wumva indwara ya Erdheim-Chester (ECD)? Ushobora kuba waratunguwe gato ubwo wumvise iri zina. Kubera ko iyi ari indwara idakunze kugaragara cyane ku isi. Ariko, kubera ko ishobora kugira ingaruka ku ngingo zitandukanye z'umubiri wacu, ni ingenzi cyane kubimenya. None rero uyu munsi, reka tuganire ku ndwara ya Erdheim-Chester (ECD).

Indwara ya Erdheim-Chester (ECD) ni iki?

Mu magambo make, indwara ya Erdheim-Chester (ECD) ni indwara idakunze kugaragara mu maraso. Iri mu itsinda ry'indwara zitwa histiocytosis . Noneho ushobora kwibaza uti izi histiocytes ni izihe. Histiocytes ni ubwoko bwihariye bw'uturemangingo mu budahangarwa bw'umubiri wacu . Ni nk'abasirikare bato barinda imibiri yacu. Utu turemangingo dukunze kuboneka ahantu nko mu musokoro w'amagufwa, mu maraso, mu ruhu, mu bihaha, mu nda no mu mwijima.

Ariko, ku muntu urwaye indwara ya Erdheim-Chester (ECD), izi histiocytes zikura mu buryo butunguranye . Ni nko kugira abasirikare benshi cyane. Izi histiocytes ziyongera zitangira gukura mu bice bitandukanye by'umubiri aho zitagomba. Hanyuma zishobora kubyara ibibyimba no kwangiza ingingo nzima . Ibi nibyo bibaho muri ECD.

Iyi ndwara ikunze kugaragara mu rugero rungana iki?

Nkuko twabivuze mbere, iyi ni indwara idakunze kugaragara . Tekereza gato, kuva iyi ndwara yavumburwa bwa mbere mu 1930, ku isi hose hamaze kugaragara abantu bagera kuri 800 gusa. Ariko, bamwe mu baganga bemeza ko iyi mibare ishobora kuba iri hejuru kurushaho kuko hari abantu bamwe na bamwe barwaye iyi ndwara badasuzumwa neza. Ibi bishobora no guterwa n'uko ibihugu hirya no hino ku isi ubu bidafite uburyo bumwe bwo kubika inyandiko z'aba barwayi.

Indwara ya Erdheim-Chester (ECD) ikunze kugaragara cyane mu bantu bakuru bari mu kigero cyo hagati . Muri Leta Zunze Ubumwe za Amerika, imyaka isanzwe yo kuyirwara ni imyaka 46. Ariko, byagaragaye ko ku bana bato cyane iyi ndwara yagaragaye. Ikindi kintu ni uko abagabo ari bo bafite amahirwe menshi yo kuyirwara. Bivugwa ko hagati ya 70% na 75% by'abarwayi ari abagabo.

Ibimenyetso ni ibihe?

Uburyo indwara ya Erdheim-Chester (ECD) igira ingaruka kuri buri muntu biratandukanye cyane . Ibi bivuze ko abantu bose badafite ibimenyetso bimwe. Ibimenyetso biterwa n'ibice by'umubiri byangiritse bitewe n'uturemangingo twinshi, nk'uko twabivuze mbere, n'ingingo z'umubiri zangiritse. Hari igihe, indwara ishobora kugaragara nta bimenyetso bigaragaza (adafite ibimenyetso). Muri icyo gihe, muganga abona amakuru kuri yo binyuze mu gupima (`imaging`) cyangwa ibizamini by'amaraso (`ibizamini bya laboratwari`) byakozwe ku yindi mpamvu.

Reka turebe ingingo z'umubiri zikunze kwibasirwa cyane cyane n'ibimenyetso bifitanye isano na zo.

Uburyo bigira ingaruka ku magufwa

ECD ishobora gutera ububyimbirwe budasanzwe bw'amagufwa (osteosclerosis). Ibi rimwe na rimwe bishobora gutera ububabare bw'amagufwa . Ikimenyetso gikunze kugaragara cy'iyi ndwara ni ububyimbirwe bw'amagufwa n'ububabare, cyane cyane mu maguru yombi . Ubu bubyimbirwe bw'amagufwa bugaragara neza ku bipimo by'ingufu.

Ingaruka ku mpyiko

Impyiko zacu n'ingingo zikikije (`retroperitoneum`) nabyo bishobora kwangizwa n'izi histiocytes. Ibi bishobora gutera indwara nka:

• Kubyimba impyiko.
• Kugabanuka kw'impyiko.
• Kunanirwa kw'impyiko.

Ingaruka ku misemburo y'imisemburo (urusobe rw'imisemburo)

Iyo izi histiocytes zangije imisemburo ikora imisemburo igenzura imikorere itandukanye mu mubiri wacu, hashobora kuvuka ibibazo bitandukanye by'imisemburo. Ibimenyetso biratandukanye bitewe n'imisemburo yangiritse.

• Iyo agahu k'ubwonko kangiritse: Kugabanuka k'umusaruro w'imisemburo imwe cyangwa nyinshi za pituitary (hypopituitarism).
• Iyo tiroyide yangiritse: Imisemburo ya tiroyide yagabanutse (hypothyroidism).
• Iyo gonade zangiritse: Kugabanuka kw'imisemburo y'ibitsina (nka testosterone na estrogen) (`hypogonadism`).
• Iyo adrenal gland yangiritse: Kugabanuka kw'imisemburo y'imisemburo y'imisemburo (insufficiency adrenal).

Kwangirika kw'agahu k'ubwonko bishobora gutera indwara yitwa diyabete insipidus , itera ibimenyetso nko kwihagarika kenshi no kugira inyota nyinshi. Byagaragaye ko hafi kimwe cya kabiri cy'abarwayi ba ECD nabo bafite iyi ndwara.

Ingaruka ku mikorere y'ubwonko

Ubwonko bwacu n'imitsi bishobora kwangizwa n'izi histiocytes. Hanyuma ushobora kubona ibimenyetso nk'ibi:

• Kubura uburinganire mu gihe cyo kugenda, ibibazo byo guhuza ingingo (ataxia).
• Kutavuga nabi (dysarthria) bitewe no kudashobora kugenzura imitsi mu gihe cyo kuvuga.
• Kugorwa no gutekereza, kwibanda ku byo umuntu ashaka, cyangwa kwibuka.
• Umutwe.

Ingaruka ku maso

ECD ishobora kugira ingaruka ku jisho rimwe cyangwa yombi.

• Utubyimba tw'umuhondo, tworoshye ku mboni z'amaso (xanthelasma).
• Kugaragara kw'amaso y'ijisho (proptosis).
• Kubabara amaso.
• Kugabanuka cyangwa guta ubwenge.

Ingaruka ku buryo bw'ubuhumekero

Nubwo isuzuma ryerekana ko ibihaha byagizweho ingaruka n’izi ndwara, ibimenyetso akenshi ntibikunze kubaho . Ariko, iyo ibimenyetso bigaragaye, bishobora kuba birimo:

• Inkorora.
• Kugorwa no guhumeka (dyspnea).

Iyo idavuwe neza , ishobora gutera inkovu zidashira mu bihaha (pulmonary fibrosis), indwara ikomeye.

Ingaruka ku mikorere y'umutima n'imitsi

Muganga wawe ashobora kandi kubona kuri scan ko histiocytes yagize ingaruka ku mutima wawe no ku mitsi y'amaraso. Ibi bishobora gushyira ubuzima mu kaga iyo bitavuwe. ECD ishobora gutera ibi bikurikira:

• Kubyimba k'agafuka gakikije umutima (pericardial effusion).
• Umuvuduko ukabije w'amaraso (hypertension y'impyiko) uterwa n'uko amaraso atembera mu mpyiko mu buryo budakwiye.
• Kunanirwa k'umutima.

Ingaruka ku ruhu

Ikimenyetso cy'ingenzi kigaragara ku ruhu ni uduheri tw'umuhondo (`xanthelasma`) tugaragara ku mboni z'amaso. Byongeye kandi, uduheri tw'umuhondo-umukara natwo dushobora kugaragara muri ibi bice:

• Ku isura.
• Ku ijosi.
• Igituza n'inda (`Umutsi`).
• Mu gice cy'ikibuno.

Byongeye kandi, izi histiocytes nyinshi zishobora kwirundanya no kwangiza ingirabuzimafatizo ahantu nka urwagashya, umwijima, n'umusokoro w'amagufwa.

Ni izihe mpamvu zitera iyi ndwara?

Ubu tuzi ko ECD ari indwara aho histiocytes ziyongera mu buryo budasubirwaho, zigakwirakwira, zikanangiza ingingo n'ingingo nzima. Nyamara, abahanga mu bya siyansi ntibaramenya neza impamvu izi selile zikura mu buryo budasubirwaho. Ariko, ubushakashatsi buherutse bwagaragaje ko impinduka zimwe na zimwe mu ngirabuzimafatizo zigira uruhare.

Abantu barenga kimwe cya kabiri barwaye indwara ya Erdheim-Chester (ECD) basanze bafite impinduka mu ngirabuzimafatizo ya BRAF, ituma histiocytes zikura mu buryo butunguranye.

Nubwo gene ya BRAF ari yo ikunze kugaragara cyane, abahanga mu bya siyansi bavumbuye izindi mpinduka nyinshi za gene zijyanye na ECD. Ibi byavumbuwe byatumye abahanga mu bya siyansi bakora uburyo bwo kuvura bwibanda kuri izo gene zahinduwe no guhagarika gukura kudasanzwe kwa histiocytes.

Iyi ndwara ipimwa ite?

Kubera ko indwara ya ECD idakunze kugaragara kandi ibimenyetso byayo bikaba bitandukanye bitewe n'umuntu ku giti cye, abaganga bashobora kudahita bakeka iyo ndwara. Kubwibyo, bishobora gufata igihe kugira ngo imenyekane . Ushobora gukenera kubonana n'abaganga benshi.

Muganga wawe azasuzuma ibimenyetso byawe hamwe n'ibisubizo by'ibindi bizamini byinshi kugira ngo amenye niba ufite ECD. Ibi bikurikira ni bimwe mu bintu byagufasha gusuzuma indwara:

• Uburyo bwo gufata amashusho: Gupima ibintu bitandukanye (X-rays, scans y'amagufwa, PET scans, CT scans, MRIs) bishobora gukoreshwa mu kureba aho mu mubiri izi histiocytes zinjiye mu ngingo. Bishobora kandi kugaragaza kwangirika kw'ingingo zoroshye nk'ubwonko, igituza n'ingingo zo mu nda.
• Ibizamini byo muri laboratwari:Ibi bizamini bishobora kugaragaza ibibazo bimwe na bimwe mu mikorere y’ingingo (bishobora kuba bifitanye isano na ECD), ndetse no gusuzuma ibintu nko kubyimba, imiterere y’uturemangingo tw’amaraso, n’impinduka mu rugero rw’imisemburo.
• Biopsy: Biopsy ikubiyemo gufata icyitegererezo gito cy'ingingo zangiritse no kuzisuzuma hifashishijwe mikorosikopi. Hanyuma uturemangingo dupimwa ibimenyetso bya ECD ndetse n'impinduka mu miterere y'uturemangingo nka BRAF. Kumenya imiterere y'utu turemangingo bishobora gufasha muganga wawe guhitamo uburyo bwiza bwo kuvura.

Ni ubuhe buryo bwo kuvura?

Niba nta bimenyetso ufite kandi ECD yawe idafite ingaruka ku buzima bwawe, muganga wawe ashobora gufata icyemezo cyo gukurikirana ikibazo cyawe. Ariko, abantu benshi bafite ECD bazakenera kuvurwa . Nubwo nta muti uhari, hari uburyo butandukanye bwo kuvura bushobora gufasha mu guhangana n'iki kibazo.

Dore uburyo bw'ingenzi bwo kuvura:

• Uburyo bwo kuvura hifashishijwe ikoranabuhanga: Ibi bikubiyemo gukoresha imiti yibasira ihinduka ry’uturemangingo rituma histiocytes ziyongera mu buryo butunguranye. FDA yemeje umuti witwa Vemurafenib ku barwayi ba ECD bafite BRAF gene mutation, n'umuti witwa Cobimetinib ku bafite imiterere ya MEK. Bitewe n'ubwoko bw'ihinduka ry'uturemangingo twawe, muganga wawe ashobora kukugira inama yo gukoresha iyi miti cyangwa indi miti cyangwa imiti ivanze.
• Ubudahangarwa bw'umubiri: Iyi miti ifasha ubudahangarwa bw'umubiri wacu kumenya no kurwanya uturemangingo twa kanseri (muri iki gihe, histiocytes zidasanzwe). Interferon-alpha ni umuti ukoreshwa cyane mu kuvura indwara za kanseri.
• Chimioterapi: Chimioterapi ikoresha imiti yica uturemangingo twa kanseri (uturemangingo tudasanzwe) mu mubiri wose no guhagarika gukura kwa kanseri. Umuti ukunze gukoreshwa cyane muri chimioterapi kuri ECD ni cladribine . Ariko, muganga wawe ashobora kukugira inama yo gukoresha indi miti ya chimioterapi cyangwa imiti ivanze.

Uretse ubu buryo bw'ingenzi bwo kuvura, muganga wawe ashobora kukugira inama yo kugufasha kugabanya ibimenyetso byawe. Nubwo ubu buryo bwo kuvura butazabuza histiocytes kwinjira mu ngingo zawe, bushobora kugufasha kugabanya ububabare wumva.

• Kubagwa: Kubagwa bishobora kuba ngombwa kugira ngo hakosorwe bimwe mu byangiritse ku mubiri biterwa na ECD. Urugero, kubyimba no kwangirika kw'umubiri bishobora kuziba imiyoboro itwara inkari (ureters). Ibi bibaye, kubagwa bishobora kuba ngombwa kugira ngo bikosorwe.
• Ubuvuzi bushingiye ku mirasire:Ubuvuzi bushingiye ku mirasire bushobora kugirwa inama yo gusenya uturemangingo tudasanzwe mu gace runaka k'umubiri no kugabanya ibimenyetso bitoroshye bitera.
• Corticosteroids: Iyi miti ishobora kugabanya ububyimbirwe buterwa no kwinjira kwa histiocytes.

Ushobora kandi kugira amahirwe yo kwitabira igerageza ry’ubuvuzi . Igerageza ry’ubuvuzi ni inyigo isuzuma umutekano n’ubushobozi bw’ubuvuzi bushya n’uburyo bushya bwo kuvura. Baza muganga wawe niba ushobora kwitabira igerageza ry’ubuvuzi ku ndwara ya Erdheim-Chester (ECD).

Ese ibi bishobora kwirindwa?

Ikibabaje ni uko nta buryo bwo kwirinda indwara ya Erdheim-Chester (ECD). Ariko, iyi ndwara ishobora gukemurwa ahanini hakoreshejwe uburyo bwo kuyivura.

Ushobora kumarana igihe kingana iki n'iyi ndwara?

Isuzuma ry’uko indwara izagenda riterwa n’ibice by’umubiri wawe byagizweho ingaruka n’uturemangingo tw’amaraso ndetse n’uko witabira kuvurwa. Ariko, hamwe n’iterambere ry’uburyo bushya bwo kuvura, nk’ubuvuzi bugamije kuvura indwara ya ECD, umusaruro wo kubaho ujyanye na ECD ubu warushijeho kuba mwiza cyane.

Tekereza, mu 1996, igipimo cy’ubuzima bw’imyaka itanu ku barwayi ba ECD cyari 43% gusa. Ariko, nk'uko ubushakashatsi buherutse kubigaragaza, icyo gipimo cyariyongereye kigera kuri 83%!

Vugana na muganga wawe ku bijyanye n'uko indwara yawe izagenda mu gihe kizaza ukurikije uko umerewe n'uko wifashe mu kuvurwa.

Ni ryari ukwiye kujya kwa muganga?

ECD isaba ubuvuzi n'ikurikiranwa rihoraho . Muganga wawe azakubwira inshuro ugomba kubonana na muganga wawe, ndetse niba ugomba gupimwa no gupimwa amaraso.

Uburyo bwinshi bwo kuvura ECD bushobora gutera ingaruka mbi. Uretse itsinda ryawe rishinzwe kuvura ECD, kubona ubufasha bw'itsinda rishinzwe kwita ku barwayi barembye bishobora kugufasha guhangana n'ingaruka mbi z'ubu buryo bwo kuvura no guhangana n'umuvuduko uterwa no gusuzuma indwara.

Amaherezo, ikintu cy'ingenzi cyane (Ubutumwa bwo kujyana mu rugo)

Indwara ya Erdheim-Chester (ECD) ni indwara igira ingaruka ku muntu mu buryo butandukanye, iterwa no kwiyongera cyane kwa histiocytes, byangiza ingirangingo. Ibimenyetso by'iyi ndwara biratandukanye bitewe n'umuntu ku giti cye. Ibi bishobora kugira ingaruka ku bunararibonye bwawe muri rusange, harimo n'uburyo bwo kuvura buhari.

Ariko, ku bw'amahirwe, bitewe n'iterambere riherutse, abahanga mu bya siyansi bashoboye kubona uburyo bwo kuvura butuma ECD ikomeza kwiyongera.Vugana na muganga wawe nta guhishanya ku bijyanye n'uburyo bwo kuvura bukubereye n'ibisubizo ushobora kwitega, ukurikije imiterere yihariye y'uburwayi bwawe. Wibuke ko nubwo waba uri muri iki gihe kidasanzwe, ushobora gukomeza urugendo rwawe neza ukoresheje inama n'ubufasha bikwiye by'abaganga.

Indwara ya Erdheim -Chester, ECD, histiocytosis, indwara zidasanzwe, impinduka mu ngirabuzimafatizo, BRAF, ibimenyetso, uburyo bwo kuvura