Ehlers-Danlos Syndrome: Ke Eng Hona e Tšoaroa Joang?

Litaba

• Ke eng e bakang EDS?
• Matšoao a EDS ke afe?
• Matšoao a EDS ea khale
• Matšoao a hypermobile EDS (hEDS)
• Matšoao a li-vascular EDS
• EDS e fumanoa joang?
• EDS e tšoaroa joang?
• Mathata a ka bang teng a EDS
• Ponahalo

Ehlers-Danlos syndrome ke eng?

Ehlers-Danlos syndrome (EDS) ke boemo bo futsitsoeng bo amang lisele tse sebetsang tsa 'mele. Lisele tsa khokahano li ikarabella ho ts'ehetsa le ho hlophisa letlalo, methapo ea mali, masapo le litho. E entsoe ka lisele, lintho tse likhoele, le protheine e bitsoang collagen. Sehlopha sa mathata a liphatsa tsa lefutso se baka lefu la Ehlers-Danlos, le hlahisang sekoli tlhahiso ea collagen.

Haufinyane, mefuta e meholo e 13 ea lefu la Ehlers-Danlos e se e tlatsitsoe. Tsena li kenyelletsa:

• khale
• khale-joalo
• pelo-valvular
• mothapo
• hypermobile
• arthrochalasia
• letlakala
• kyphoscoliotic
• brne cornea
• spondylodysplastic
• musculocontractural
• myopathic
• nako

Mofuta o mong le o mong oa EDS o ama likarolo tse fapaneng tsa 'mele. Leha ho le joalo, mefuta eohle ea EDS e na le ntho e le 'ngoe e tšoanang: hypermobility. Ho hloka botsitso ke mefuta e mengata e sa tloaelehang ea motsamao manonyellong.

Ho ea ka Laeborari ea Naha ea Bongaka ea Bongaka ea Bongaka ea Bongaka, EDS e ama motho a le mong ho ba 5 000 lefatšeng ka bophara. Ho se ts'oanehe le mefuta ea khale ea lefu la Ehlers-Danlos ke eona e atileng haholo. Mefuta e meng ha e fumanehe hangata. Mohlala, dermatosparaxis e ama feela bana ba 12 lefatšeng ka bophara.

Ke eng e bakang EDS?

Maemong a mangata EDS ke boemo bo futsitsoeng. Boholo ba linyeoe ha bo futsanehe. Sena se bolela hore li etsahala ka liphetoho tsa tlhaho tsa lefutso. Liphoso liphatseng tsa lefutso li fokolisa ts'ebetso le sebopeho sa collagen.

Liphatsa tsohle tsa lefutso tse thathamisitsoeng ka tlase li fana ka litaelo tsa hore na u ka kopanya collagen joang, ntle le ADAMTS2. Gene eo e fana ka litaelo tsa ho etsa liprotheine tse sebetsang le collagen. Liphatsa tsa lefutso tse ka bakang EDS, leha e se lenane le felletseng, li kenyelletsa:

• LITLHAKU 2
• KHOL1A1
• KHOL1A2
• KHOL3A1
• KHOL51
• MOKOLOKO
• PLOD1
• TLHK

Matšoao a EDS ke afe?

Ka linako tse ling batsoali ke bajari ba khutsitseng ba liphatsa tsa lefutso tse sa sebetseng tse bakang EDS. Sena se bolela hore batsoali ba kanna ba se be le matšoao a boemo boo. Ebile ha ba tsebe hore ke bajari ba lefutso le nang le sekoli. Ka linako tse ling, sesosa sa lefutso se matla haholo 'me se ka baka matšoao.

Matšoao a EDS ea khale

• manonyeletso a hlephileng
• letlalo le boreleli haholo
• letlalo le senyehang habonolo
• letlalo le tlabolang ha bobebe
• letlalo le sa hloneheng le phutha mahlo
• bohloko ba mesifa
• mokhathala wa mesifa
• kholo e nang le kotsi libakeng tsa khatello, joalo ka liluma le mangole
• Mathata a li-valve a pelo

Matšoao a hypermobile EDS (hEDS)

• manonyeletso a hlephileng
• ho longoa habonolo
• bohloko ba mesifa
• mokhathala wa mesifa
• lefu le sa foleng le kopaneng
• osteoarthritis ea pele ho nako
• bohloko bo sa foleng
• Mathata a li-valve a pelo

Matšoao a li-vascular EDS

• methapo ea mali e fokolang
• letlalo le lesesane
• letlalo le bonaletsang
• nko e tšesaane
• mahlo a hlahelletseng
• molomo o mosesane
• marama a koahetsoeng
• seledu se senyane
• matšoafo a helehileng
• Mathata a li-valve a pelo

EDS e fumanoa joang?

Lingaka li kanna tsa sebelisa letoto la liteko ho fumana EDS (ntle le hEDS), kapa ho lahla maemo a mang a tšoanang. Liteko tsena li kenyelletsa liteko tsa lefutso, biopsy ea letlalo le echocardiogram. Echocardiogram e sebelisa maqhubu a molumo ho etsa litšoantšo tse tsamaeang tsa pelo. Sena se tla bontša ngaka haeba ho na le ho sa tloaelehang ho teng.

Sampole ea mali e nkuoa letsohong la hao mme e hlahlojoa bakeng sa liphetoho liphatseng tsa lefutso tse ling. Biopsy ea letlalo e sebelisetsoa ho hlahloba matšoao a ho se tloaelehe tlhahisong ea collagen. Sena se kenyelletsa ho tlosa sampole e nyane ea letlalo le ho e hlahloba ka microscope.

Teko ea DNA e ka netefatsa hape hore na liphatsa tsa lefutso tse nang le sekoli li teng ka popelong. Mofuta ona oa liteko o etsoa ha mahe a mosali a nontšoa ka ntle ho mmele oa hae (in vitro fertilization).

EDS e tšoaroa joang?

Khetho ea hajoale ea kalafo bakeng sa EDS e kenyelletsa:

• Phekolo ea 'mele (e neng e sebelisetsoa ho nchafatsa ba nang le botsitso bo kopaneng le ba mesifa)
• ho buuoa ho lokisa manonyeletso a senyehileng
• lithethefatsi ho fokotsa bohloko

Likhetho tse ling tsa kalafo li ka fumaneha ho latela boholo ba bohloko boo u bo utloang kapa matšoao a mang a mang.

U ka nka mehato ena ho thibela likotsi le ho sireletsa manonyeletso a hau:

• Qoba lipapali tsa puisano.
• Qoba ho phahamisa litšepe.
• Sebelisa setlolo se sireletsang letlalo letsatsing ho sireletsa letlalo.
• Qoba lisepa tse thata tse ka 'nang tsa omella letlalo kapa tsa baka likhathatso.
• Sebelisa lisebelisoa tse thusang ho fokotsa khatello ea manonyeletso a hau.

Hape, haeba ngoana oa hau a e-na le EDS, latela mehato ena ho thibela likotsi le ho sireletsa manonyeletso a hae. Ntle le moo, beha ngoana oa hau marulelo a lekaneng pele a palama baesekele kapa a ithuta ho tsamaea.

Mathata a ka bang teng a EDS

Mathata a EDS a ka kenyelletsa:

• bohloko bo sa foleng ba manonyeletso
• dislocation e kopanetsoeng
• ramatiki e qalang ea pele
• pholiso e liehang ea maqeba, e lebisang ho mabali a hlaheletseng
• maqeba a ho buoa a nang le bothata ba ho fola

Ponahalo

Haeba u belaella hore u na le EDS e ipapisitse le matšoao ao u nang le ona, ho bohlokoa ho etela ngaka ea hau. Ba tla khona ho u hlahloba ka liteko tse 'maloa kapa ka ho lahla maemo a mang a tšoanang.

Haeba u fumanoa u na le boemo boo, ngaka ea hau e tla sebetsa le uena ho theha moralo oa kalafo. Ntle le moo, ho na le mehato e 'maloa eo u ka e nkang ho thibela kotsi.