Ehlers-Danlos chirwere

Ehlers-Danlos syndrome (EDS) iboka rezvinetso zvakagarwa nhaka zvinoratidzirwa nezvisungo zvakasununguka zvakanyanya, rakatambanudzwa (hyperelastic) ganda rinokuvadza nyore nyore, uye rinokuvadza nyore nyore tsinga dzeropa.

Kune marudzi matanhatu makuru uye angangoita mashanu madiki emhando dzeEDS.

Mhando dzakasiyana dzekuchinja kwemajini (shanduko) dzinokonzera matambudziko ne collagen. Ichi ndicho chinyorwa chinopa simba uye chimiro ku:

• Ganda
• Bonzo
• Tsinga
• Nhengo dzemukati

Iyo isina kujairika collagen inotungamira kune izvo zviratidzo zvine hukama neEDS. Mune mamwe mafomu ehurwere, kuputika kwenhengo dzemukati kana zvisina kujairika moyo mavharuvhu anogona kuitika.

Nhoroondo yemhuri chinhu chengozi mune zvimwe zviitiko.

Zviratidzo zveEDS zvinosanganisira:

• Kutambudzika shure
• Kaviri-kubatana
• Yakakanganisika nyore, yakakuvara, uye yakatambanudzwa ganda
• Kupora kuri nyore uye kwakapora ronda
• Tsoka dzakatsetseka
• Kuwedzera kwekubatana kwekubatana, majoini kubuda, kutanga arthritis
• Yakabatana dislocation
• Joint kurwadziwa
• Kukurumidza kuputika kwemukati panguva yekuzvitakura
• Yakanyorovera uye velvety ganda
• Matambudziko ekuona

Kuongororwa nemupi wezvehutano anogona kuratidza:

• Akaremara pamusoro peziso (cornea)
• Kuwedzera kwemajoini kusununguka uye kubatana kusagadzikana
• Mitral vharuvhu mumoyo haivhare zvakasimba (mitral valve prolapse)
• Gum hutachiona (periodontitis)
• Kubvaruka kwematumbo, chibereko, kana bhora reziso (rinoonekwa chete muvascular EDS, zvisingawanzoitika)
• Yakapfava, yakatetepa, kana yakatambanuka ganda

Miedzo yekuongorora EDS inosanganisira:

• Collagen typing (inoitwa pane yeganda biopsy sampuro)
• Collagen gene mutation kuyedza
• Echocardiogram (moyo ultrasound)
• Lysyl hydroxylase kana oxidase chiitiko (kutarisa collagen kuumbwa)

Iko hakuna chaiwo mushonga weEDS. Matambudziko emunhu uye zviratidzo zvinoongororwa nekutarisirwa nenzira kwayo. Kurapa kwepanyama kana kuongororwa nachiremba anonyanya kugadzirisa mushonga wekuvandudza unowanzodiwa.

Izvi zviwanikwa zvinogona kupa rumwe ruzivo nezve EDS:

• National Sangano reRare Dambudziko - rarediseases.org/rare-diseases/ehlers-danlos-syndrome
• US National Raibhurari yeMishonga, Genetics Kumba Referensi - ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome

Vanhu vane EDS kazhinji vane hupenyu hwakajairika. Kungwara kwakajairika.

Avo vane vasingawanzo vascular mhando yeEDS vari panjodzi huru yekutyoka kwenhengo huru kana muropa. Vanhu ava vane njodzi huru yekufa kamwe kamwe.

Zvinogona kuitika matambudziko eEDS anosanganisira:

• Kusingaperi kurwadziwa kwemajoini
• Kutanga-kutanga arthritis
• Kukundikana kwemaronda ekuvhiya kuvhara (kana kusona kubvarura)
• Kukurumidza kuputika kwemukati panguva yekuzvitakura
• Kubvaruka kwemidziyo mikuru, kusanganisira rakaputsika aortic aneurysm (chete muvascular EDS)
• Kubvaruka kwenhengo isina chinhu yakadai sechibereko kana ura (chete muvascular EDS)
• Kubvaruka kweziso reziso

Sheedza musangano pamwe nemupi wako kana uine nhoroondo yemhuri yeEDS uye une hanya nenjodzi yako kana uri kuronga kutanga mhuri.

Dana kuti usangane nemupi wako kana iwe kana mwana wako aine zviratidzo zveEDS.

Genetic counselling inokurudzirwa kune vangangove vabereki vane nhoroondo yemhuri yeEDS. Ivo vanoronga kutanga mhuri vanofanirwa kuziva mhando yeEDS yavanayo uye nemabatiro ayo ekuti inopfuudzwa sei kuvana. Izvi zvinogona kutemerwa kuburikidza nekuyedza uye kuongororwa kwakakurudzirwa nemupi wako kana wezvechibvumirano.

Kuziva chero njodzi dzakakomba dzehutano kunogona kubatsira kudzivirira kukomba kwakanyanya nekuchenjerera kuongorora uye shanduko yemararamiro.

Krakow D. Zvirwere zvinokanganisa zvehunhu hunobatanidza. Mune: Firestein GS, Budd RC, Gabriel SE, McInnes IB, O'Dell JR, eds. Kelly naFirestein's Bhuku reRheumatology. 10th ed. Philadelphia, PA: Elsevier; 2017: chits. 105.

Pyeritz RE. Nhaka yezvirwere zvezvibatanidza. Mune: Goldman L, Schafer AI, eds. Goldman-Cecil Mushonga. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016: chitsiko 260.