I-Ehlers-Danlos Syndrome: Iyini Futhi Iphathwa Kanjani?

-Delile

• Yini ebangela i-EDS?
• Ziyini izimpawu ze-EDS?
• Izimpawu ze-EDS yakudala
• Izimpawu ze-hypermobile EDS (hEDS)
• Izimpawu ze-vascular EDS
• I-EDS itholakala kanjani?
• Iphathwa kanjani i-EDS?
• Izinkinga ezingaba khona ze-EDS
• Umbono

Yini i-Ehlers-Danlos syndrome?

I-Ehlers-Danlos syndrome (i-EDS) yisimo esizuzwe njengefa esithinta izicubu ezixhuma emzimbeni. Izicubu ezixhumayo zibhekele ukuxhasa nokwakha isikhumba, imithambo yegazi, amathambo nezitho. Yenziwe ngamaseli, izinto ezinemicu, kanye neprotheni ebizwa nge-collagen. Iqembu lokuphazamiseka kofuzo kubangela i-Ehlers-Danlos syndrome, eholela ekuphumeni kokukhiqizwa kwe-collagen.

Muva nje, izinhlobo ezinkulu ze-13 ze-Ehlers-Danlos syndrome sezihanjisiwe. Lokhu kufaka phakathi:

• zakudala
• njenge-classic
• inhliziyo-valvular
• imithambo yegazi
• i-hypermobile
• arthrochalasia
• sikhumba
• umabhebhana
• i-brne cornea
• spondylodysplastic
• musculocontractural
• myopathic
• isikhathi

Uhlobo ngalunye lwe-EDS luthinta izindawo ezahlukahlukene zomzimba. Kodwa-ke, zonke izinhlobo ze-EDS zinento eyodwa ezifanayo: ukungabi namandla. Hypermobility uhla olukhulu ngokungavamile lokunyakaza emajoyintini.

Ngokwe-National Library of Medicine’s Genetics Home Reference, i-EDS ithinta umuntu oyedwa kwabangu-5 000 emhlabeni jikelele. Ukungabi namandla kanye nezinhlobo zakudala ze-Ehlers-Danlos syndrome yizona ezivame kakhulu. Ezinye izinhlobo azivamile. Isibonelo, i-dermatosparaxis ithinta kuphela izingane eziyi-12 emhlabeni jikelele.

Yini ebangela i-EDS?

Ezimweni eziningi i-EDS yisimo esizuzwe njengefa. Ubuncane bamacala abuzuzwa njengefa. Lokhu kusho ukuthi zenzeka ngokuguquguquka kwezakhi zofuzo okuzenzakalelayo. Amaphutha kuzakhi zofuzo athena amandla inqubo nokwakheka kwe-collagen.

Zonke izakhi zofuzo ezibalwe ngezansi zinikeza imiyalo yokuthi ungayihlanganisa kanjani i-collagen, ngaphandle kwe-ADAMTS2. Lolo hlobo luhlinzeka ngemiyalo yokwenza amaprotheni asebenza ne-collagen. Izakhi zofuzo ezingadala i-EDS, ngenkathi kungesilo uhlu oluphelele, zifaka:

• ADAMTS2
• I-COL1A1
• I-COL1A2
• I-COL3A1
• I-COL5A1
• I-COL6A2
• I-PLOD1
• I-TNXB

Ziyini izimpawu ze-EDS?

Abazali kwesinye isikhathi bayizithwali ezingathuli zofuzo olungalungile olubanga i-EDS. Lokhu kusho ukuthi abazali kungenzeka bangabi nazimpawu zesimo. Futhi abazi ukuthi bangabathwali besakhi sofuzo esinesici. Ngezinye izikhathi, imbangela yezakhi zofuzo ibaluleke kakhulu futhi ingadala izimpawu.

Izimpawu ze-EDS yakudala

• amalunga avulekile
• isikhumba esinwebeka kakhulu, esivelivethi
• isikhumba esintekenteke
• isikhumba esilimazayo kalula
• isikhumba esingafuneki emehlweni
• ubuhlungu bemisipha
• ukukhathala kwemisipha
• ukukhula okumile ezindaweni zengcindezi, njengezindololwane namadolo
• Izinkinga ze-valve yenhliziyo

Izimpawu ze-hypermobile EDS (hEDS)

• amalunga avulekile
• ukulinyazwa okulula
• ubuhlungu bemisipha
• ukukhathala kwemisipha
• izifo ezingamahlalakhona eziwohlokayo ezingapheli
• i-osteoarthritis engakafiki isikhathi
• ubuhlungu obungapheli
• Izinkinga ze-valve yenhliziyo

Izimpawu ze-vascular EDS

• imithambo yegazi entekenteke
• isikhumba esincane
• isikhumba esobala
• ikhala elizacile
• amehlo aphumile
• izindebe ezondile
• izihlathi ezicwile
• isilevu esincane
• wawa amaphaphu
• Izinkinga ze-valve yenhliziyo

I-EDS itholakala kanjani?

Odokotela bangasebenzisa uchungechunge lwezivivinyo ukuxilonga i-EDS (ngaphandle kwe-hEDS), noma bakhiphe ezinye izimo ezifanayo. Lezi zivivinyo zifaka ukuhlolwa kofuzo, isikhumba se-biopsy, ne-echocardiogram. I-echocardiogram isebenzisa amaza omsindo ukudala izithombe ezihambayo zenhliziyo. Lokhu kuzokhombisa udokotela uma kukhona okungajwayelekile okukhona.

Isampuli segazi sithathwa engalweni yakho bese sihlolelwa ukuguqulwa kwezakhi zofuzo ezithile. I-biopsy yesikhumba isetshenziselwa ukuhlola izimpawu zokungajwayelekile ekukhiqizeni i-collagen. Lokhu kuhilela ukususa isampula elincane lesikhumba bese usihlola ngaphansi kwesibonakhulu.

Ukuhlolwa kwe-DNA nakho kungaqinisekisa uma ngabe isakhi sofuzo esingalungile sikhona embungwini. Le ndlela yokuhlola yenziwa lapho amaqanda omuntu wesifazane efakwa ngaphandle komzimba wakhe (in vitro fertilization).

Iphathwa kanjani i-EDS?

Izinketho zokwelashwa zamanje ze-EDS zifaka:

• ukwelashwa ngokomzimba (okusetshenziselwa ukuvuselela labo abanokungazinzi kwamalunga nemisipha)
• ukuhlinzwa ukulungisa amalunga omzimba alimele
• izidakamizwa zokunciphisa izinhlungu

Izinketho zokwelashwa ezingeziwe zingatholakala ngokuya ngenani lobuhlungu obuzwayo noma ezinye izimpawu ezingeziwe.

Ungathatha futhi lezi zinyathelo ukuvimbela ukulimala nokuvikela amalunga akho:

• Gwema imidlalo yokuxhumana.
• Gwema ukuphakamisa izinsimbi.
• Sebenzisa i-sunscreen ukuvikela isikhumba.
• Gwema insipho enokhahlo engadlula isikhumba ngokweqile noma ibangele ukungezwani komzimba.
• Sebenzisa amadivayisi okusiza ukunciphisa ingcindezi emajoyintini akho.

Futhi, uma ingane yakho ine-EDS, landela lezi zinyathelo ukuvimbela ukulimala nokuvikela amalunga abo. Ngaphezu kwalokho, beka ingane yakho padding eyanele ngaphambi kokuba igibele ibhayisikili noma ifunda ukuhamba.

Izinkinga ezingaba khona ze-EDS

Izinkinga ze-EDS zingafaka:

• ubuhlungu obungapheli obuhlangene
• ukuhlukaniswa ngokuhlanganyela
• ukuqala kwesifo samathambo
• ukwelashwa okuhamba kancane kwamanxeba, okuholela ekuqhamukeleni okuvelayo
• amanxeba okuhlinzwa okunzima ukuphola

Umbono

Uma usola ukuthi une-EDS ngokuya ngezimpawu ohlangabezana nazo, kungenisa ukuvakashela udokotela wakho. Bazokwazi ukukuxilonga ngezivivinyo ezimbalwa noma ngokukhipha ezinye izimo ezifanayo.

Uma kutholakala ukuthi unalesi sifo, udokotela wakho uzosebenzisana nawe ukwenza uhlelo lokwelashwa. Ngokwengeziwe, kunezinyathelo eziningana ongazithatha ukuvimbela ukulimala.