I-Ehlers-Danlos Syndrome: Iyintoni kwaye iphathwa njani?

Umxholo

• Yintoni ebangela i-EDS?
• Zithini iimpawu ze-EDS?
• Iimpawu ze-classic EDS
• Iimpawu zehypermobile EDS (hEDS)
• Iimpawu ze-vascular EDS
• Ufumanisa njani i-EDS?
• Iphathwa njani i-EDS?
• Iingxaki ezinokubakho ze-EDS
• Imbonakalo

Yintoni i-Ehlers-Danlos syndrome?

I-Ehlers-Danlos syndrome (i-EDS) yimeko yelifa echaphazela izicwili ezihlangeneyo emzimbeni. Izicubu ezinxibelelanayo zinoxanduva lokuxhasa kunye nokwakha ulusu, imithambo yegazi, amathambo kunye namalungu. Yenziwe ziiseli, izinto ezinemicu, kunye neprotein ebizwa ngokuba yi-collagen. Iqela lokuphazamiseka kwemfuza kubangela isifo se-Ehlers-Danlos, esikhokelela kwisiphene kwimveliso ye-collagen.

Kutshanje, iintlobo ezili-13 eziphambili ze-Ehlers-Danlos syndrome ziye zathunyelwa. Oku kubandakanya:

• iklasikhi
• iklasikhi-efana
• yevalvular yentliziyo
• yemithambo
• hypermobile
• arthrochalasia
• yesikhumba
• kyphoscoliotic
• i-brne cornea
• spondylodysplastic
• musculocontractural
• imopathic
• ixesha

Uhlobo ngalunye lwe-EDS luchaphazela iindawo ezahlukeneyo zomzimba. Nangona kunjalo, zonke iintlobo ze-EDS zinento enye efanayo: ukungahambelani. Ukungaxhamli kuluhlu olukhulu ngokungaqhelekanga lokuhamba kumalungu.

NgokweThala leNcwadi leLizwe lezeMpilo kwi-Reference Home Reference, i-EDS ichaphazela umntu omnye kwabayi-5 000 kwihlabathi liphela. Ukungaxinani kunye nohlobo lwe-Ehlers-Danlos syndrome zezona zixhaphakileyo. Ezinye iintlobo zinqabile. Umzekelo, i-dermatosparaxis ichaphazela kuphela abantwana abali-12 kwihlabathi liphela.

Yintoni ebangela i-EDS?

Kwiimeko ezininzi i-EDS yimeko ezuzwe njengelifa. Ubuncinci bamatyala awuzuzwanga njengelifa. Oku kuthetha ukuba zenzeka ngokutshintsha kwemfuza okuzenzekelayo. Ukusilela kwimfuza kuyenza buthathaka inkqubo kunye nokwenziwa kwe-collagen.

Zonke iintlobo zofuzo ezidweliswe apha ngezantsi zibonelela ngendlela yokuhlanganisa i-collagen, ngaphandle kwe-ADAMTS2. Olo luhlobo lubonelela ngemiyalelo yokwenza iiproteni ezisebenza kunye ne-collagen. Imfuza enokubangela i-EDS, ngelixa ingekho uluhlu olupheleleyo, kubandakanya:

• IADAMTSI 2
• IKOL1A1
• ICOL1A2
• ICOL3A1
• IKHOL5A1
• ICol6A2
• IPLODI 1
• I-TNXB

Zithini iimpawu ze-EDS?

Ngamanye amaxesha abazali bathula bethe cwaka kwimfuza enesiphene ebangela i-EDS. Oku kuthetha ukuba abazali abanakuba naziphi na iimpawu zale meko. Kwaye abazi ukuba bangabathwali bemfuza enesiphene. Ngamanye amaxesha, unobangela wemfuza ubalulekile kwaye unokubangela iimpawu.

Iimpawu ze-classic EDS

• amalungu adibeneyo
• ilastiki kakhulu, ulusu velvety
• ulusu oluethe-ethe
• ulusu olugruzuka ngokulula
• ulusu olungafunekiyo lusonge emehlweni
• iintlungu zemisipha
• ukudinwa kwezihlunu
• ukukhula okukuko kwiindawo zoxinzelelo, ezinjengeengqiniba kunye namadolo
• iingxaki zentliziyo yevalvu

Iimpawu zehypermobile EDS (hEDS)

• amalungu adibeneyo
• ukutyunyuzwa ngokulula
• iintlungu zemisipha
• ukudinwa kwezihlunu
• isifo esihlangeneyo esinganyangekiyo
• ngaphambi kwexesha iasteoarthritis
• iintlungu ezingapheliyo
• iingxaki zentliziyo yevalvu

Iimpawu ze-vascular EDS

• imithambo yegazi eethe-ethe
• ulusu olubhityileyo
• ulusu olubonakalayo
• impumlo ebhityileyo
• Amehlo aphumileyo
• imilebe ebhityileyo
• izidlele zitshonile
• isilevu esincinci
• umphunga owileyo
• iingxaki zentliziyo yevalvu

Ufumanisa njani i-EDS?

Oogqirha banokusebenzisa uthotho lweemvavanyo ukufumanisa i-EDS (ngaphandle kwe-hEDS), okanye bakhuphe ezinye iimeko ezifanayo. Olu vavanyo lubandakanya uvavanyo lwemfuza, i-biopsy yolusu, kunye ne-echocardiogram. I-echocardiogram isebenzisa amaza esandi ukwenza imifanekiso eshukumayo yentliziyo. Oku kuya kubonisa ugqirha ukuba kukho naziphi na izinto ezingaqhelekanga ezikhoyo.

Isampulu yegazi ithathwa engalweni yakho kwaye ivavanyelwe utshintsho kwiijeni ezithile. I-biopsy yolusu isetyenziselwa ukukhangela imiqondiso yokungaqhelekanga kwimveliso ye-collagen. Oku kubandakanya ukususa isampulu encinci yolusu kwaye uyijonge phantsi kwemicroscope.

Uvavanyo lwe-DNA lukwanokuqinisekisa ukuba kukho uhlobo olunesiphene kumbungu. Olu hlobo lovavanyo lwenziwa xa amaqanda omfazi echunyisiwe ngaphandle komzimba wakhe (in vitro fertilization).

Iphathwa njani i-EDS?

Ukhetho lwangoku lwe-EDS lubandakanya:

• unyango lomzimba (olusetyenziselwa ukubuyisela kwimeko yesiqhelo abo bangazinzanga ngokudibeneyo kunye nezihlunu)
• utyando ukulungisa amalungu awonakeleyo
• iziyobisi ukunciphisa iintlungu

Ukhetho olongezelelekileyo lonyango lunokufumaneka ngokuxhomekeke kubungakanani beentlungu ohlangabezana nazo okanye naziphi na iimpawu ezongezelelweyo.

Unokuthatha la manyathelo ukukhusela ukulimala kwaye ukhusele amalungu akho:

• Yiphephe imidlalo yokudibana.
• Kuphephe ukuphakamisa iintsimbi.
• Sebenzisa i-sunscreen ukukhusela ulusu.
• Gwema iisepha ezinobunzima ezinokuthi zenze ulusu ngaphezulu okanye zibangele ukungezwani komzimba.
• Sebenzisa izixhobo zokuncedisa ukunciphisa uxinzelelo kumalungu akho.

Kwakhona, ukuba umntwana wakho une-EDS, landela la manyathelo ukukhusela ukulimala kunye nokukhusela amalungu abo. Ukongeza, beka iphedi efanelekileyo kumntwana wakho ngaphambi kokuba akhwele ibhayisekile okanye afunde ukuhamba.

Iingxaki ezinokubakho ze-EDS

Iingxaki ze-EDS zinokubandakanya:

• iintlungu ezingapheliyo ezidibeneyo
• ukwahlukana ngokudibeneyo
• ukuqala kwesifo samathambo
• ukunyanga okucothayo kwamanxeba, okukhokelela ekufumaneni amanxeba
• amanxeba otyando anzima ukuphola

Imbonakalo

Ukuba ukrokrela ukuba une-EDS esekwe kwiimpawu ohlangabezana nazo, kungenisa ngaphakathi ukutyelela ugqirha wakho. Baya kuba nakho ukufumanisa ukuba uneemvavanyo ezimbalwa okanye ngokulawula ezinye iimeko ezifanayo.

Ukuba ufumene ukuba unale meko, ugqirha wakho uza kusebenza nawe ukwenza isicwangciso sonyango. Ukongeza, kukho amanyathelo aliqela onokuwathatha ukuthintela ukwenzakala.