Kodi mukufuna kudziwa zambiri za Marfan Syndrome? Tiyeni tikambirane!

Kodi munayamba mwaonapo kuti anthu ena ndi aatali kwambiri kuposa ena, miyendo yawo, zala zawo, ndi zina zotero zimaoneka ngati zazitali kuposa zachizolowezi? Kapena ali ndi mawonekedwe osazolowereka pachifuwa, kapena ali ndi mavuto a maso? Nthawi zina, pamodzi ndi zizindikiro izi, pakhoza kukhala mavuto ena a mtima ndi maso. Ndicho chimene Marfan Syndrome ili. Ichi ndi matenda a majini. Musadandaule, tiyeni tikambirane za izi mwatsatanetsatane.

Kodi Marfan Syndrome ndi chiyani? Mwachidule...

Mwachidule, Marfan Syndrome ndi matenda a majini omwe amakhudza minofu yolumikizana m'matupi athu. Tsopano mwina mukudabwa kuti minofu yolumikizana ndi chiyani. Taganizirani izi, minofu yolumikizana ndi mtundu wapadera wa minofu yomwe imalumikiza ziwalo zosiyanasiyana za thupi lathu, monga khungu, mafupa, mitsempha yamagazi, ndi ma valve amtima, ndipo zimathandiza kuzipatsa mphamvu ndi kusinthasintha.

Mu munthu amene ali ndi matenda a Marfan, minofu yolumikizana iyi imakhala yofooka pang'ono, ndipo imatambasuka kwambiri . Ili ngati lamba wa rabara, koma ili ndi mphamvu zochepa. Ichi ndichifukwa chake vutoli lingakhudze machitidwe osiyanasiyana m'thupi. Lingakhudze makamaka mtima, mitsempha yamagazi, maso, mafupa ndi mafupa .

Madokotala amatcha izi ndi matenda a majini omwe ali ndi "kusintha kwa mawonekedwe." Izi zikutanthauza kuti si onse omwe ali ndi matendawa omwe ali ndi zizindikiro zomwezo. Anthu ena amakhala ndi zizindikiro zochepa kwambiri, pomwe ena amakhala ndi zizindikiro zina zochepa. Ndipo nthawi yomwe imatenga kuti zizindikiro ziwonekere imatha kusiyana malinga ndi munthu ndi munthu.

Matenda a Marfan ndi matenda omwe amapezeka munthu akangobadwa . Komabe, nthawi zina zizindikiro zimaonekera ndipo mungakhale wachinyamata kapena wamkulu mukamapezeka ndi matendawa. Ndi limodzi mwa matenda ofala kwambiri obadwa nawo. Amakhudza munthu m'modzi mwa anthu 3,000 mpaka 5,000.

Kodi zizindikiro za izi zingakhale zotani?

Matenda a Marfan ali ndi zizindikiro ziwiri zazikulu. Choyamba ndi aortic root aneurysm (aortic root aneurysm) . Ichi ndi kutupa kapena kufalikira kwa mtsempha waukulu wamagazi womwe umanyamula magazi kuchokera mumtima mwathu kupita ku thupi (aorta). China ndi lenzi ya maso yosweka (ectopia lentis) .

Makhalidwe awiri akuluakulu awa angakuthandizeni kukhala ndi zizindikiro monga:

• Kugunda kwa mtima ndi momwe mtima wanu ukugunda mofulumira komanso chifuwa chanu chikugunda.
• Kumva mtima wanu ukugunda mokweza komanso mwachangu.
• Kupweteka kwa maso.
• Kuvuta kupuma.
• Kusintha kwa masomphenya; mwachitsanzo, astigmatism ndi kusawona bwino kwambiri.

Koma chifukwa chakuti matenda a Marfan amatha kukhudza ziwalo zina za thupi, zizindikiro zina zingachitike. Mwachitsanzo, zizindikiro zakuthupi zingaphatikizepo:

• Nkhopeyo ingawoneke ngati yayitali komanso yopapatiza pang'ono.
• Manja, miyendo, ndi zala zimaoneka zazitali kwambiri poyerekeza ndi ziwalo zina za thupi.
• Mano odzaza ndi mano omwe amakokedwa pamodzi ndipo amaoneka ngati asonkhana pamwamba pa wina ndi mnzake.
• Scoliosis.
• Mapazi osalala.
• Kufooka ndi kusweka mosavuta kwa mafupa.
• Mabala otambasula amaonekera pakhungu ngakhale kulemera kwa thupi sikusinthe kwambiri.
• Chifuwa chomira (pectus excavatum) kapena chifuwa chotuluka (pectus carinatum).
• Wamtali, woonda thupi.

Kodi mavuto a vutoli ndi otani?

Matenda a Marfan angayambitse mavuto osiyanasiyana omwe amakhudza mtima, maso, ndi mapapo anu.

Mavuto a mtima ndi matenda a mtima ndi mavuto ofala kwambiri a Marfan syndrome. Izi zingaphatikizepo:

• Kung'ambika kwa mtsempha wamagazi: Uku ndi kung'ambika kwa mkati mwa khoma la mtsempha wanu wamagazi. Uku ndi kuvulala kwadzidzidzi.
• Matenda a valve ya mtima: Marfan syndrome ingayambitse minofu ya valve ya mtima kukhala yofooka komanso yosinthasintha.
• Mtima wokulira: Pakapita nthawi, minofu ya mtima wanu imatha kukula ndikufooka.
• Kusakhazikika kwa kugunda kwa mtima (Arrhythmia): Vutoli nthawi zambiri limagwirizanitsidwa ndi kutsika kwa mitral valve.
• Kutupa kwa mitsempha yamagazi muubongo: Kutupa kwa malo ofooka mumtsempha wamagazi mkati kapena mozungulira ubongo.

Mavuto a maso angaphatikizepo:

• Ma cataract.
• Matenda a glaucoma.
• Kuchotsedwa kwa retina.

Kusintha kwa minofu ya m'mapapo komwe kumakhudzana ndi matenda a Marfan kungawonjezere chiopsezo cha:

• Mphumu.
• Matenda a m'mphuno.
• Matenda a m'mapapo osatha (COPD).
• Mapapo osweka / pneumothorax.
• Emphysema.
• Chibayo.

Kodi n’chiyani chimayambitsa matenda a Marfan?

Izi zimachitika chifukwa cha kusintha kwa majini . Makamaka, kusintha kwa jini - jini ya FBN1 - komwe kumauza maselo athu kuti apange puloteni yotchedwa fibrillin . Fibrillin iyi ndi gawo lalikulu la ulusi wotanuka m'maselo athu olumikizirana.

Nthawi zambiri, matenda a Marfan ndi matenda omwe amabadwa nawo kuchokera kwa kholo limodzi . Ichi ndi cholowa cha autosomal dominant.Matenda obadwa nawo. Izi zikutanthauza kuti, vutoli lingayambitsidwe ndi kulandira jini kuchokera kwa kholo limodzi. Munthu amene ali ndi matenda a Marfan ali ndi mwayi wa 50% wopatsira matendawa kwa mwana aliyense.

Komabe, pafupifupi 25% ya milandu, vutoli limatha kuchitika chifukwa cha kusintha kwa majini (komwe palibe chifukwa chomwe chingadziwike), popanda mbiri ya banja.

Kodi madokotala amazindikira bwanji matenda a Marfan?

Popeza matenda a Marfan amakhudza minofu yosiyanasiyana m'thupi, mungafunike thandizo la gulu la akatswiri kuti mudziwe vutoli ndikupanga dongosolo la chithandizo.

Choyamba, madokotala amachita zinthu izi:

• Funsani za mbiri yanu yachipatala.
• Kuyezetsa thupi kudzachitika kuti aone ngati pali zizindikiro zilizonse za matendawa.
• Kufunsa za zizindikiro zanu.
• Funsani ngati pali aliyense m'banjamo amene wakhalapo ndi mavuto azaumoyo okhudzana ndi matenda a Marfan.

Madokotala nthawi zambiri amagwiritsa ntchito njira zodziwika bwino zotchedwa "Ghent nosology" pozindikira matenda a Marfan. Mayeso otsatirawa angalimbikitsidwe kuti atsimikizire matendawa kapena kuchotsa matenda ena ofanana nawo:

• Kujambula kwa CT `(Kujambula kwa kompyuta - Kujambula kwa CT)`.
• X-ray ya pachifuwa.
• Mayeso a E.C.G. `(Electrocardiogram - ECG)`.
• Echocardiogram.
• Kujambula kwa MRI (Kujambula kwa maginito - MRI)

Kuyezetsa majini (uku ndi kuyezetsa magazi) kungayang'ane kusintha kwa majini a FBN1, omwe nthawi zambiri amayambitsa matenda a Marfan. Komabe, zotsatira za mayeso a majini awa sizimveka bwino nthawi zonse. Kuyezetsa kumeneku kungayang'anenso matenda ena a majini omwe amayambitsa zizindikiro zofanana, monga matenda a Loeys-Dietz.

Kodi matenda a Marfan amachiritsidwa bwanji?

Palibe mankhwala a Marfan syndrome. Komabe, pali njira zosiyanasiyana zochiritsira ndi njira zomwe zingakuthandizeni kuthana ndi zizindikiro zanu ndikupewa mavuto. Izi zikuphatikizapo:

• Mankhwala.
• Kuwunika zachipatala nthawi zonse.
• Malangizo a zochita zolimbitsa thupi.
• Opaleshoni.

Mukufunika dongosolo la chithandizo lomwe likugwirizana ndi mavuto anu azaumoyo.

Mankhwala

Mankhwala ena angathandize kupewa kapena kuletsa mavuto:

• Beta-blockers: Izi zimaletsa kapena kuchepetsa kukula kwa mitsempha ikuluikulu. Madokotala amalimbikitsa kuyamba chithandizochi msanga kwa anthu omwe ali ndi matenda a Marfan. Ngati simungathe kumwa izi chifukwa cha matenda monga mphumu kapena chifukwa cha zotsatirapo zake, dokotala wanu angakupatseni mankhwala oletsa njira ya calcium .
• Ma ARB (Angiotensin II receptor blockers):Mankhwalawa angathandizenso kuchepetsa kukula kwa matumbo akuluakulu.

Ngati mwachitidwa opaleshoni ya valavu ya mtima chifukwa cha Marfan syndrome, muyenera kumwa mankhwala oletsa magazi kuundana kwa moyo wanu wonse.

Kuyang'aniridwa nthawi zonse ndi dokotala

Muyenera kupita kuchipatala nthawi zonse kuti mudziwe zinthu izi:

• Mtima ndi mitsempha yamagazi - makamaka kukula kwa diaphragm yanu yayikulu.
• Maso.
• Dongosolo la mafupa.

Mwanjira imeneyi, gulu lanu lachipatala likhoza kuyang'anira kusintha ndikupeza mavuto aliwonse omwe angakhalepo msanga. Adzakuuzani nthawi zomwe muyenera kubwera kudzayesa izi.

Kuwunika kumeneku nthawi zambiri kumaphatikizapo mayeso ojambula zithunzi monga:

• Kujambula kwa CT.
• Ma Echocardiogram.
• Kujambula kwa MRI.

Malangizo a zochita zolimbitsa thupi

Kuchita masewera olimbitsa thupi molimbika komanso molimbika kungapangitse kuti diaphragm yanu ndi minofu ina yolumikizana yomwe yakhudzidwa ndi Marfan syndrome ivutike. Chifukwa chake, muyenera kugwira ntchito ndi katswiri wa zamaganizo kuti mupeze masewera olimbitsa thupi ndi masewera olimbitsa thupi omwe ndi abwino kwa inu.

Madokotala nthawi zambiri amalimbikitsa kuchita masewera olimbitsa thupi pang'ono mpaka pang'ono. Komabe, ngati mwachitidwa opaleshoni pa mitral valve kapena mizu ya valvu yanu, mungafunike kuchita masewera olimbitsa thupi pang'ono.

Kawirikawiri, muyenera kupewa zinthu monga:

• Zochita zomwe zimaphatikizapo kugwira mpweya wanu ndi kuchita khama mwamphamvu (Valsalva maneuver).
• Lumikizanani ndi masewera.
• Kuchita masewera olimbitsa thupi mpaka kutopa.
• Maseŵero olimbitsa thupi omwe amaphatikizapo kugwira malo amodzi kwa nthawi yayitali, monga matabwa ndi makoma, amatchedwa maseŵero olimbitsa thupi a isometric.

Opaleshoni ya mtima

Zolinga zazikulu za opaleshoni ya mtima ya Marfan syndrome ndikuteteza kuti valavu yanu ya aortic isakule kapena kuphulika komanso kuchiza mavuto a valavu. Inu ndi gulu lanu lachipatala mudzasankha limodzi ngati mukufuna opaleshoni, mutaganizira zinthu zingapo.

Izi ndi opaleshoni ndi njira zodziwika bwino zomwe zimachitidwa pa matenda a Marfan:

• Kukonza kapena kusintha ma valve a mtsempha wamagazi.
• Kukonza aneurysm ya aorta yokwera.
• Kukonza kapena kusintha ma valve a Mitral.
• Kukonzanso kwa aorta ya thoracic endovascular.

Ngati mukufuna opaleshoni, yesani kusankha chipatala chachikulu chomwe chili ndi luso la mtundu wa opaleshoni yomwe mukuchitidwa. Gulu lanu la opaleshoni liyeneranso kumvetsetsa bwino za Marfan syndrome.

Kodi mungayembekezere chiyani mukakhala ndi matenda a Marfan?

Ngati muli ndi matenda a Marfan, muyenera kupita kuchipatala nthawi zonse komanso kudziwa bwino za thupi lanu. Matenda a Marfan sakhudza aliyense mofanana, choncho ulendo wanu wokhala ndi vutoli udzakhala wapadera kwa inu. Gulu lanu lachipatala lidzakuthandizani kuzolowera kusintha kwa matenda anu.

Kumbukirani, simuli nokha. Gulu la azachipatala limakhala nanu nthawi zonse.

Chifukwa cha kudziwa zambiri za Marfan syndrome komanso chithandizo chabwino chamankhwala, anthu omwe ali ndi Marfan syndrome tsopano akukhala ndi moyo wautali kuposa momwe analili asanafike zaka za m'ma 1970. Moyo wa munthu amene ali ndi Marfan syndrome tsopano ndi wofanana ndi wa munthu amene alibe vutoli. Komabe, moyo wa amuna ndi wochepa kwambiri poyerekeza ndi wa akazi.

Matenda a mtima ndi omwe amayambitsa imfa zambiri mu Marfan syndrome. Izi ndi zoona makamaka pa imfa zadzidzidzi zomwe zimachitika pamene matendawa sanadziwike. Chiwopsezo chake chimakhala chachikulu kwa iwo omwe apezeka ndi matendawa mochedwa.

Matenda a Marfan ndi thanzi la maganizo

Pali zinthu zingapo zomwe zingakhudze thanzi lanu la maganizo komanso moyo wanu mukakhala ndi matenda a Marfan. Mwachitsanzo:

• Matenda a Marfan ndi matenda osatha ndipo amafunika chithandizo cha moyo wonse.
• Mmene vutoli limakhudzira maonekedwe anu.
• Kupweteka kosatha komanso kutopa.
• Zoletsa pa zochita zolimbitsa thupi (izi nthawi zambiri zimakhudzanso maubwenzi a anthu).
• Kukakamizidwa kwa kulera.

Pachifukwa ichi, mukhoza kukhala pachiopsezo chachikulu cha zinthu monga:

• Nkhawa.
• Kuvutika maganizo.
• Kuzunzidwa ndi ena.
• Kudzipatula pagulu.

Osamalira odwala komanso achibale a anthu omwe ali ndi matenda a Marfan nawonso ali pachiwopsezo chotenga matenda amisala amenewa.

Thanzi lanu la maganizo ndi lofunika mofanana ndi thanzi lanu lakuthupi.

Ngati mukumva kupsinjika maganizo chifukwa cha matenda a Marfan, musaiwale kupempha thandizo kwa katswiri wa zamaganizo, monga katswiri wa zamaganizo . Mungapezenso kuti n'kothandiza kulowa nawo gulu lothandizira.

Moyo wokhala ndi matenda a Marfan ungamveke ngati khomo lozungulira la nthawi yokumana ndi dokotala, chithandizo, komanso kusintha moyo. Koma mayeso aliwonse ndi nthawi iliyonse yokumana ndi dokotala zimakuthandizani kupewa mavuto ochokera ku matenda a Marfan ndikukhala ndi moyo wathanzi momwe mungathere. Gulu lanu lachipatala lili nanu pa zonsezi. Pezani thandizo ndi chitsogozo chawo. Ngati mukumva ngati mwatopa ndi zonsezi, funani thandizo kwa katswiri wa zamaganizo.

Zinthu zofunika kwambiri kuzikumbukira (Uthenga Wopita Nawo Kunyumba)

Chabwino, tiyeni tiwone mfundo zazikulu zomwe muyenera kukumbukira kuchokera pa zomwe takambirana:

• Matenda a Marfan ndi matenda omwe amabwera chifukwa cha majini., zimakhudza minofu yolumikizana ya thupi lathu.
• Izi zingakhudze madera osiyanasiyana monga mtima, maso, ndi mafupa. Ndikofunikira kwambiri kupita kukayezetsa kuchipatala nthawi zonse .
• Ngakhale kuti palibe mankhwala athunthu a izi, pali mankhwala abwino oletsa zizindikiro ndikuletsa mavuto.
• Tsatirani malangizo a dokotala wanu molondola. Imwani mankhwala anu pa nthawi yake ndipo yesani mayeso omwe mwauzidwa.
• Muyenera kusamala kwambiri mukamachita masewera olimbitsa thupi. Funsani dokotala wanu kapena katswiri wa masewera olimbitsa thupi kuti ndi masewera olimbitsa thupi ati omwe angakuyenerereni.
• Samalaninso thanzi lanu la maganizo. Musazengereze kupempha thandizo ngati mukufuna thandizo.
• Simuli nokha, muli ndi gulu lachipatala, banja, ndi anzanu oti akuthandizeni.

Ndikukhulupirira kuti izi zikuthandizani. Ngati muli ndi mafunso ena, musazengereze kufunsa dokotala wanu.

Matenda a Marfan , matenda a majini, minofu yolumikizana, matenda a mtima, mafupa, maso, fibrillin