Ngaba uyafuna ukwazi ngeMarfan Syndrome? Masithethe!

Ngaba wakha waphawula ukuba abanye abantu bade kakhulu kunabanye, amalungu abo, iminwe, njl.njl. ibonakala inde kunesiqhelo? Okanye banesimo esingaqhelekanga sesifuba, okanye baneengxaki zokubona? Ngamanye amaxesha, kunye nezi mpawu, kunokubakho iingxaki ezithile ngentliziyo namehlo. Yiyo loo nto iMarfan Syndrome. Esi sisifo semfuza. Ungakhathazeki, masithethe ngale nto ngokweenkcukacha.

Yintoni iMarfan Syndrome? Ngamafutshane...

Ngamafutshane, iMarfan Syndrome yimeko yemfuza echaphazela izicwili ezidityanisiweyo emizimbeni yethu. Ngoku usenokuba uzibuza ukuba zeziphi izicwili ezidityanisiweyo. Cinga ngayo, izicwili ezidityanisiweyo luhlobo olukhethekileyo lwezicwili ezidibanisa iindawo ezahlukeneyo zomzimba wethu, ezifana nolusu, amathambo, imithambo yegazi, kunye neevalvu zentliziyo, kwaye zinceda ekuzinikeni amandla kunye nokuguquguquka.

Kumntu one-Marfan syndrome, le tissue ibuthathaka kancinci, kwaye iyanwebeka kakhulu . Ifana nebhanti yerabha, kodwa inamandla amancinci. Yiyo loo nto le meko inokuchaphazela iinkqubo ezahlukeneyo emzimbeni. Ingachaphazela kakhulu intliziyo, imithambo yegazi, amehlo, amathambo kunye namalungu .

Oogqirha babiza oku ngokuthi yimeko yemfuza "eguquguqukayo yokubonakaliswa." Oku kuthetha ukuba ayinguye wonke umntu onesifo oya kuba neempawu ezifanayo. Abanye abantu baya kuba neempawu ezimbalwa kakhulu, ngelixa abanye baya kuba nezinye ezimbalwa. Kwaye ixesha elithathayo ukuba iimpawu zibonakale linokwahluka kumntu nomntu.

I-Marfan syndrome yimeko ekhoyo xa uzalwa . Nangona kunjalo, ngamanye amaxesha iimpawu ziyavela kwaye usenokuba ngumntu omdala osemtsha okanye ngaphezulu xa ufunyaniswa ukuba unayo. Le yenye yezona ngxaki zixhaphakileyo zezicubu ezidityanisiweyo. Ichaphazela umntu omnye kubantu abayi-3,000 ukuya kwabayi-5,000.

Zingaba yintoni iimpawu zoku?

I-Marfan syndrome ineempawu ezimbini eziphambili. Eyokuqala yi -aortic root aneurysm (aortic root aneurysm) . Oku kukudumba okanye ukwanda komthambo wegazi oyintloko othwala igazi lisuka entliziyweni yethu ukuya emzimbeni (i-aorta). Eyesibini yilensi yeliso ekhutshiweyo (ectopia lentis) .

Ezi mpawu zimbini ziphambili zinokubangela ukuba ube neempawu ezifana nezi:

• Ukubetha kwentliziyo kukuziva intliziyo yakho ibetha ngokukhawuleza kwaye isifuba sakho sibetha ngamandla.
• Ukuva intliziyo yakho ibetha kakhulu kwaye ikhawuleza.
• Intlungu yamehlo.
• Ubunzima bokuphefumla.
• Utshintsho lombono; umzekelo, i-astigmatism kunye nokubona izinto ezikufutshane kakhulu.

Kodwa ngenxa yokuba iMarfan syndrome inokuchaphazela ezinye iindawo zomzimba, ezinye iimpawu zinokubakho. Umzekelo, iimpawu zomzimba zingabandakanya:

• Ubuso bunokubonakala bude kancinci kwaye bumxinwa.
• Iingalo, imilenze, kunye neminwe zibonakala zinde kakhulu xa zithelekiswa nezinye iindawo zomzimba.
• Amazinyo axineneyo ngamazinyo atsalwa kunye kwaye abonakala ngathi abekwe phezu komnye.
• I-Scoliosis.
• Iinyawo ezithe tyaba.
• Ubuthathaka kunye nokuqhekeka kwamalungu ngokulula.
• Amabala okuzolula ayavela eluswini nangona ubunzima bomzimba bungatshintshi kakhulu.
• Isifuba esitshekileyo (pectus excavatum) okanye isifuba esiphumayo (pectus carinatum).
• Umzimba omde, obhityileyo.

Zithini iingxaki zale meko?

I-Marfan syndrome inokubangela iingxaki ezahlukeneyo ezichaphazela intliziyo yakho, amehlo kunye nemiphunga.

Iingxaki zentliziyo nemithambo yegazi zezona ngxaki zixhaphakileyo zeMarfan syndrome. Ezi zingabandakanya:

• Ukuqhekeka kwe-aorta: Oku kukukrazuka komgangatho ongaphakathi wodonga lwe-aorta yakho. Oku kungxamiseko.
• Isifo seevalvu zentliziyo: I-Marfan syndrome inokubangela ukuba izicubu ezikwiivalvu zentliziyo zibe buthathaka kwaye ziguquguquke.
• Intliziyo ekhulisiweyo: Ekuhambeni kwexesha, izihlunu zentliziyo yakho zinokukhula zibe buthathaka.
• Ukuphazamiseka kwentliziyo (i-Arrhythmia): Le meko idla ngokunxulunyaniswa ne-mitral valve prolapse.
• Ii-aneurysms zobuchopho: Ukudumba kwendawo ebuthathaka kwimithambo yegazi ngaphakathi okanye ejikeleze ingqondo.

Iingxaki zamehlo zingabandakanya:

• IiCataracts.
• Imeko yeGlaucoma.
• Ukuqhekeka kwe-retina.

Utshintsho kwizicubu zemiphunga ezinxulumene ne-Marfan syndrome lunokunyusa umngcipheko we:

• Isifuba.
• I-Bronchitis.
• Isifo semiphunga esingapheliyo (i-COPD).
• Imiphunga ephukileyo/i-pneumothorax.
• I-Emphysema.
• Ukukrala kwemiphunga.

Yintoni ebangela iMarfan syndrome?

Oku kubangelwa lutshintsho lwemfuza . Ngokukodwa, utshintsho kwimfuza - i-FBN1 gene - oluxelela iiseli zethu ukuba zenze iproteni ebizwa ngokuba yi-fibrillin . Le fibrillin yinxalenye ephambili yeefayibha ze-elastic kwizicubu zethu ezinxibelelanayo.

Kwiimeko ezininzi, i-Marfan syndrome yimeko efunyanwa ngomnye wabazali . Le yi -autosomal dominant inheritance.Isifo esizuzwe njengelifa. Oko kukuthi, le meko inokubangelwa kukufumana i-gene evela kumzali omnye. Umntu one-Marfan syndrome unethuba elingama-50% lokudlulisela esi sifo kumntwana ngamnye.

Nangona kunjalo, malunga ne-25% yamatyala, le meko inokubangelwa lutshintsho olutsha lwemfuza (olungafumanekiyo isizathu), ngaphandle kwembali yosapho.

Oogqirha bayixilonga njani iMarfan syndrome?

Ngenxa yokuba i-Marfan syndrome ichaphazela izicubu ezahlukeneyo emzimbeni, unokufuna uncedo lweqela leengcali ukuze uxilonge imeko kwaye uphuhlise isicwangciso sonyango.

Okokuqala, oogqirha benza ezi zinto:

• Buza ngembali yakho yezonyango.
• Kuya kwenziwa uvavanyo lomzimba ukuze kubonwe ukuba kukho naziphi na iimpawu eziqhelekileyo zesifo.
• Ukubuza ngeempawu zakho.
• Buza ukuba kukho nabani na kusapho lwakhe okhe waba neengxaki zempilo ezinxulumene neMarfan syndrome.

Oogqirha badla ngokusebenzisa uluhlu lweendlela ezibizwa ngokuba yi- "Ghent nosology" ukuze baxilonge iMarfan syndrome. Ezi mvavanyo zilandelayo zingacetyiswa ukuqinisekisa ukuxilongwa okanye ukuthintela ezinye iimeko ezifanayo:

• Iskeni se-CT `(I-computed tomography - Iskeni se-CT)`.
• I-X-ray yesifuba.
• Uvavanyo lwe-E.C.G. `(I-Electrocardiogram - ECG)`.
• I-Echocardiogram.
• Iskeni se-MRI (Umfanekiso we-Magnetic resonance - i-MRI)

Uvavanyo lwemfuza (olu luvavanyo lwegazi) lunokukhangela utshintsho kwi-FBN1 gene, edla ngokuba yimbangela ye-Marfan syndrome. Nangona kunjalo, iziphumo zezi mvavanyo zemfuza azisoloko zicacile. Olu vavanyo lunokukhangela nezinye iimeko zemfuza ezibangela iimpawu ezifanayo, ezifana ne-Loeys-Dietz syndrome.

Inyangwa njani iMarfan syndrome?

Akukho nyango lweMarfan syndrome. Nangona kunjalo, kukho iindlela ezahlukeneyo zonyango ezinokukunceda ukulawula iimpawu zakho kunye nokuthintela iingxaki. Ezi ziquka:

• Amayeza.
• Ukubekwa esweni rhoqo kwezonyango.
• Isikhokelo somsebenzi womzimba.
• Utyando.

Udinga isicwangciso sonyango esihambelana ngqo neengxaki zakho zempilo.

Amayeza

Amanye amayeza anokunceda ukuthintela okanye ukulawula iingxaki:

• Ii-Beta-blockers: Ezi zithintela okanye zicothise ukukhula kwemithambo emikhulu. Oogqirha bacebisa ukuba baqale olu nyango kwangethuba kangangoko kubantu abane-Marfan syndrome. Ukuba awukwazi ukuzithatha ngenxa yesifo esifana ne-asthma okanye ngenxa yeziphumo ebezingalindelekanga, ugqirha wakho unokukunika i -calcium channel blocker .
• Ii-Angiotensin II receptor blockers (ARBs):La mayeza anokunceda ekunciphiseni izinga lokukhula kwamathumbu amakhulu.

Ukuba utyando lwevalvu yentliziyo ngenxa yeMarfan syndrome, kuya kufuneka uthathe amayeza okunciphisa ukugabha kwegazi ubomi bakho bonke.

Ukuhlolwa rhoqo kwezonyango

Kufuneka uhlolwe rhoqo ngugqirha kwezi zinto:

• Intliziyo kunye nemithambo yegazi – ingakumbi ubukhulu be-diaphragm yakho enkulu.
• Amehlo.
• Inkqubo yamathambo.

Ngale ndlela, iqela lakho lezonyango linokujonga utshintsho kwaye lichonge naziphi na iingxaki ezinokubakho kwangethuba. Baza kukuxelela ukuba kufuneka uye kangaphi kwezi mvavanyo.

Olu hlolo ludla ngokuquka iimvavanyo zomfanekiso ezifana nezi:

• Iiskeni ze-CT.
• Ii-Echocardiograms.
• Iiskeni zeMRI.

Isikhokelo somsebenzi womzimba

Umsebenzi womzimba onzima nonzima unokubeka uxinzelelo kwi-diaphragm yakho nakwezinye izicwili ezidityanisiweyo ezichaphazeleka yi-Marfan syndrome. Ke ngoko, kufuneka usebenzisane nogqirha wezonyango ukuze ufumane imithambo ekhuselekileyo kunye nemidlalo efanelekileyo kuwe.

Oogqirha badla ngokucebisa ukuba wenze umthambo onzima kancinci ukuya kophakathi. Nangona kunjalo, ukuba ukhe watyandwa kwi-mitral valve okanye iingcambu zevalvu yakho, kunokufuneka wenze umthambo ophantsi nangakumbi.

Ngokubanzi, kufuneka uziphephe izinto ezinje:

• Imisebenzi equka ukubamba umphefumlo wakho nokuzibhokoxa ngamandla (iValsalva maneuver).
• Nxibelelana nezemidlalo.
• Ukuzilolonga kude kube kukudinwa.
• Ukuzilolonga okubandakanya ukubamba indawo enye ixesha elide, njengeeplanga kunye neendonga, kubizwa ngokuba zii-isometric exercises.

Utyando lwentliziyo

Iinjongo eziphambili zotyando lwentliziyo kwi-Marfan syndrome kukuthintela ivalvu yakho ye-aortic ukuba ikhule okanye iqhekeke kunye nokunyanga iingxaki zevalvu. Wena kunye neqela lakho lezonyango niza kugqiba kunye ukuba ngaba nifuna utyando, emva kokuqwalasela izinto ezahlukeneyo.

Ezi zezona ndlela zotyando zixhaphakileyo ezenziwayo kwiMarfan syndrome:

• Ukulungiswa okanye ukutshintshwa kwevalvu ye-aorta.
• Ukulungiswa kwe-aortic aneurysm enyukayo.
• Ukulungiswa okanye ukutshintshwa kwevalvu yeMitral.
• Ukulungiswa kwe-aorta ye-thoracic endovascular.

Ukuba udinga utyando, zama ukukhetha isibhedlele esikhulu esinamava ngohlobo lotyando oluya kwenziwa. Iqela lakho lotyando kufuneka libe nolwazi oluhle ngeMarfan syndrome.

Yintoni onokuyilindela xa uphila neMarfan syndrome?

Ukuba une-Marfan syndrome, kuya kufuneka ube ne-aphoyintimenti rhoqo nogqirha kwaye uqaphele umzimba wakho. I-Marfan syndrome ayichaphazeli wonke umntu ngendlela efanayo, ngoko ke uhambo lwakho nale meko luya kuba lolwakho kuphela. Iqela lakho lezonyango liya kukunceda ulungelelane notshintsho olukwimeko yakho.

Khumbula, awuwedwa. Iqela lezonyango lihlala linawe.

Ngenxa yolwazi olwandisiweyo malunga neMarfan syndrome kunye nonyango oluphuculweyo, abantu abaneMarfan syndrome ngoku baphila ixesha elide kunangaphambi kweminyaka yoo-1970. Ubomi bomntu oneMarfan syndrome ngoku bufana kakhulu nobomntu ongenaso esi sifo. Nangona kunjalo, ubomi bamadoda bufutshane kakhulu kunobabafazi.

Isifo sentliziyo sisesona sibangela ukufa kwiMarfan syndrome. Oku kuyinyani ngakumbi xa kufe abantu ngequbuliso xa isifo singabonwa. Umngcipheko uphezulu nakwabo bafunyenwe sele benesifo.

I-Marfan syndrome kunye nempilo yengqondo

Kukho izinto ezininzi ezinokuchaphazela impilo yakho yengqondo kunye nomgangatho wobomi xa uphila neMarfan syndrome. Umzekelo:

• I-Marfan syndrome yimeko engapheliyo kwaye ifuna unyango lobomi bonke.
• Indlela le meko echaphazela ngayo inkangeleko yakho.
• Intlungu engapheliyo kunye nokudinwa.
• Imiqathango kwimisebenzi yomzimba (ezi zihlala zichaphazela ubudlelwane bezentlalo).
• Uxinzelelo locwangciso-ntsapho.

Ngenxa yesi sizathu, usenokuba sengozini enkulu yezinto ezifana nezi:

• Ixhala.
• Uxinzelelo.
• Ukuxhaphazwa ngabanye abantu.
• Ukubekwa wedwa koluntu.

Abantu abanyamekela abantu abaneMarfan syndrome nabo basengozini yokufumana ezi ngxaki zempilo yengqondo.

Impilo yakho yengqondo ibaluleke njengempilo yakho yomzimba.

Ukuba uziva uxinezelekile ngenxa yeMarfan syndrome, ungalibali ukufuna uncedo kwingcali yezempilo yengqondo, njengengcali yezengqondo . Ungafumana kuluncedo ukujoyina iqela lenkxaso.

Ubomi obune-Marfan syndrome bunokubonakala ngathi ngumnyango ojikelezayo we-aphoyintimenti, unyango, kunye notshintsho kwindlela yokuphila. Kodwa uvavanyo ngalunye kunye ne-aphoyintimenti nganye ikunceda uphephe iingxaki ezivela kwi-Marfan syndrome kwaye uphile ubomi obusempilweni kangangoko kunokwenzeka. Iqela lakho lezonyango linawe kuyo yonke le nto. Fumana inkxaso kunye nesikhokelo sabo. Ukuba uziva ngathi uxinezelekile kuko konke oku, funa uncedo kwingcali yezempilo yengqondo.

Izinto ezibalulekileyo ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Kulungile, makhe sijonge ezinye zezona ngongoma zibalulekileyo ekufuneka uzikhumbule kwinto esithethe ngayo:

• I-Marfan syndrome yimeko yemfuza., ichaphazela izicwili zomzimba wethu.
• Oku kunokuchaphazela iindawo ezahlukeneyo ezifana nentliziyo, amehlo kunye namathambo. Kubaluleke kakhulu ukuba uhlolwe rhoqo ngugqirha .
• Nangona kungekho nyango lupheleleyo loku, kukho unyango olufanelekileyo lokulawula iimpawu nokuthintela iingxaki.
• Landela imiyalelo kagqirha wakho ngokuchanekileyo. Sela amayeza akho ngexesha kwaye ufumane uvavanyo oluyalelweyo.
• Kufuneka ulumke kakhulu xa usenza imisebenzi yomzimba. Buza ugqirha wakho okanye ingcali yezonyango ukuba zeziphi imithambo efanelekileyo kuwe.
• Nyamekela impilo yakho yengqondo. Ungathandabuzi ukufuna uncedo ukuba uyalufuna.
• Awuwedwa, uneqela lezonyango, usapho, kunye nabahlobo abanokukunceda.

Ndiyathemba ukuba olu lwazi luza kukunceda. Ukuba uneminye imibuzo, ungathandabuzi ukubuza ugqirha wakho.

I- Marfan Syndrome, isifo semfuza, izicwili ezidityanisiweyo, isifo sentliziyo, amathambo, amehlo, i-fibrillin