Isifo se-Ehlers-Danlos

I-Ehlers-Danlos syndrome (i-EDS) iyiqembu lokuphazamiseka okuzuzwe njengefa okuphawulwe ngamalunga axegayo ngokweqile, isikhumba eseluleke kakhulu (hyperelastic) esilimaza kalula, futhi esilimaza kalula imithambo yegazi.

Kunezinhlobo ezinkulu eziyisithupha futhi okungenani izinhlobo ezinhlanu ezincane ze-EDS.

Izinguquko ezahlukahlukene zofuzo (ukuguquka kwezakhi zofuzo) zidala izinkinga nge-collagen. Lokhu okuqukethwe okunikeza amandla nokwakheka kokulandelayo:

• Isikhumba
• Ithambo
• Imithambo yegazi
• Izitho zangaphakathi

I-collagen engavamile iholela ezimpawu ezihambisana ne-EDS. Kwezinye izinhlobo ze-syndrome, ukuqhuma kwezitho zangaphakathi noma ama-valve wenhliziyo angavamile.

Umlando womndeni uyingcuphe kwezinye izimo.

Izimpawu ze-EDS zifaka:

• Ukuhlungu obusemhlane
• Ukuhlanganiswa kabili
• Isikhumba esonakele kalula, esilimele, neselulekayo
• Izibazi ezilula nokuphulukiswa kwesilonda esibi
• Izinyawo eziphansi
• Ukunyuka kokuhamba ngokuhlanganyela, amalunga ayavela, i-arthritis yokuqala
• Ukuhlukaniswa okuhlangene
• Ubuhlungu obuhlangene
• Ukuqhekeka ngaphambi kwesikhathi kwezingqamuzana ngesikhathi sokukhulelwa
• Isikhumba esithambile kakhulu futhi esivelivethi
• Izinkinga zombono

Ukuhlolwa ngumhlinzeki wezokunakekelwa kwempilo kungakhombisa:

• Ubuso obukhubazekile beso (i-cornea)
• Ukweqa okuhlangene ngokweqile nokuqina okuhlangene
• I-Mitral valve enhliziyweni ayivali ngokuqinile (i-mitral valve prolapse)
• Ukutheleleka ngezinsini (periodontitis)
• Ukuqhekeka kwamathumbu, isibeletho, noma inhlamvu yeso (kubonwa kuphela kuma-vascular EDS, okungajwayelekile)
• Isikhumba esithambile, esincanyana, noma eselulekayo

Ukuhlolwa kokuthola i-EDS kufaka phakathi:

• Ukuthayipha kwe-Collagen (kwenziwa kusampula ye-biopsy yesikhumba)
• Ukuhlolwa kokuguqulwa kwezakhi zofuzo kweCollagen
• I-Echocardiogram (inhliziyo ye-ultrasound)
• I-Lysyl hydroxylase noma i-oxidase (ukuhlola ukwakheka kwe-collagen)

Alikho ikhambi elithile le-EDS. Izinkinga nezimpawu zomuntu ngamunye ziyahlolwa futhi zinakekelwe ngokufanele. Ukwelashwa ngokomzimba noma ukuhlolwa ngudokotela onguchwepheshe wemithi yokuvuselela kuvame ukudingeka.

Lezi zinsizakusebenza zinganikeza imininingwane eminingi nge-EDS:

• Inhlangano Kazwelonke Yezinkinga Ezingajwayelekile - rarediseases.org/rare-diseases/ehlers-danlos-syndrome
• Umtapo Wezincwadi Kazwelonke Wezokwelapha wase-US, Isethenjwa Sasekhaya Sofuzo - ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome

Abantu abane-EDS ngokuvamile banesikhathi esijwayelekile sokuphila. Ukuhlakanipha kujwayelekile.

Labo abanezinhlobo zemithambo ezingavamile ze-EDS basengozini enkulu yokuqhekeka kwesitho esikhulu noma umthambo wegazi. Laba bantu basengozini enkulu yokufa ngokuzumayo.

Izinkinga ezingenzeka ze-EDS zifaka:

• Ubuhlungu obuhlangene obuhlala njalo
• I-arthritis yokuqala
• Ukwehluleka kwamanxeba okuhlinzwa ukuvalwa (noma ukuthungwa kuqhume)
• Ukuqhekeka ngaphambi kwesikhathi kwezingqamuzana ngesikhathi sokukhulelwa
• Ukuqhekeka kwemikhumbi emikhulu, kufaka phakathi i-aortic aneurysm (kuphela ku-EDS ye-vascular)
• Ukuqhekeka kwesitho esingenalutho njengesibeletho noma amathumbu (kuphela ku-EDS yemithambo)
• Ukudwengulwa kwenhlamvu yeso

Shayela i-aphoyintimenti nomhlinzeki wakho uma unomlando womndeni we-EDS futhi ukhathazekile ngengozi yakho noma uhlela ukuqala umndeni.

Shayela i-aphoyintimenti nomhlinzeki wakho uma wena noma ingane yakho inezimpawu ze-EDS.

Ukwelulekwa ngofuzo kunconyelwa abazali abazoba nomlando womndeni we-EDS. Labo abahlela ukuqala umndeni kufanele bazi ngohlobo lwe-EDS abanayo nendlela yayo yokuthi idluliselwa kanjani ezinganeni. Lokhu kunganqunywa ngokuhlolwa nokuhlolwa okuphakanyiswe ngumhlinzeki wakho noma umeluleki wezofuzo.

Ukuhlonza noma iziphi izingozi ezibalulekile zempilo kungasiza ekuvikeleni ubunzima obunzima ngokuqapha nokushintsha indlela yokuphila.

UKrakow D. Izifo ezithathelwanayo zezicubu ezixhuma. Ku: Firestein GS, Budd RC, Gabriel SE, McInnes IB, O'Dell JR, abahleli. Incwadi kaKelly noFirestein yeRheumatology. Umhlaka 10. IPhiladelphia, PA: Elsevier; I-2017: isahluko 105.

UPyeritz RE. Izifo ezizuze njengefa zezicubu ezixhuma. Ku: IGoldman L, iSchafer AI, ama-eds. Imithi yeGoldman-Cecil. Umhla ka-25. IPhiladelphia, PA: Elsevier Saunders; 2016: isahluko 260.