Izinkinga Zokuphefumula Ekubuthongweni Ngenxa Yengqungquthela Iingxaki kwi-Airway
Kubonakala kunzima ukukholelwa, kodwa ukudibanisa kabini kubonisa ukuba unobungozi bokuphazamiseka kwe- apnea yokulala ? I-Ehlers-Danlos syndrome (i-EDS) yimeko echaphazela i-cartilage kuwo wonke umzimba, kubandakanywa kunye ne-airway, kwaye oku kunokubangela ukuba abantu baphelelwe ukuphefumula, ukulala nokulala.
Funda malunga neempawu, i-subtypes, ukuxhaphaka, kunye nekhonkco phakathi kwe-Ehlers-Danlos kunye ne-apnea yokulala, nokuba ngaba unyango lunokunceda.
Yintoni i-Ehlers-Danlos Syndrome (EDS)?
I-Ehlers-Danlos syndrome (i-EDS), okanye i-Ehlers-Danlos disorder, liqela leengxaki ezichaphazela izicubu ezixhasayo ezixhasa ulusu, amathambo, imithwalo yegazi kunye nezinye iisculi kunye namalungu amaninzi. I-EDS yimizimba yofuzo echaphazela ukuphuhliswa kwe-collagen kunye neeprotheni ezinxulumene nezibhloko zokwakha izicubu. Iimpawu zayo zinokubangela ubunzima obukhulu, kubangele ukudibanisa ngokukhawuleza kwiingxaki ezisongela ubomi.
Ukuguqulwa komzimba kwii-geni ezili-12 kuye kwadibaniswa nophuhliso lwe-EDS. Ukungaqhelekanga kwe-Genetic kuthintela imiyalelo yokwenza iziqendu zeentlobo ezahlukeneyo ze-collagen, into eyenza isakhiwo kunye namandla kumathambo afanelekileyo kuwo wonke umzimba. I-collagen kunye neeprotheni ezinxulumene zingenako ukuhlanganiswa ngokufanelekileyo.
Ezi ziphoso zikhokelela ekubuthathaka kwezicubu kwesikhumba, amathambo kunye nezinye izitho.
Kukho zombini i-autosomal ephezulu (AD) kunye neefomu eziziqhelanisayo (AR) zelifa, kuxhomekeke kwi-subtype ye-EDS. Kwilifa le-AD, ikopi enye yomgubo oguqulwe ngokwaneleyo ukuba ibangele ingxaki. Kwifa le-AR, zombini iikopi ze-gene kufuneka zitshintshelwe ukuba imeko ibe khona kwaye abazali banokuhlala bephethe i-gene kodwa bengafani.
Ukudibanisa iifom ezahlukeneyo, i-EDS iqikelelwa ukuba iyichaphazele malunga nanye kubantu abayi-5,000.
Iimpawu ze-Ehlers-Danlos Syndrome
Iimpawu ezinxulumene ne-Ehlers-Danlos syndrome ziyahlukahluka ngokuxhomekeke kwisisombululo kunye nesincinci. Ezinye zeempawu eziqhelekileyo ziquka:
- Ukuxhatshazwa okuhlangeneyo: Kungakho kubekho uluhlu oluqhelekileyo lwentlangano yokubambisana (ngamanye amaxesha kuthiwa "ahlanganiswe kabini"). Ezi zihlanganiso ezixhamlayo zizinokuthi zizinze kwaye zilungele ukutshatyalaliswa (okanye ukudluliswa) kwaye zibangele ubuhlungu obungapheliyo.
- Utshintsho lwesikhumba: Ulusu lunokuba luncedo kwaye lube lukhuni. Ilule kakhulu, i-elastic, ne-fragile. Oku kunokuba negalelo lokululaza nokungahambi ngokungaqhelekanga.
- Ithethi yesisu esisweleyo: Iintsana zinokuba nezihlunu ezibuthathaka kunye nokulibazisa ekuphuhliseni imoto (ezichaphazela ukuhlala, ukuma, nokuhamba).
- Ukuqhathaniswa nokuzalwa ngexesha lokuzalwa
- Intlungu engapheliyo (ngokuqhelekileyo i-musculoskelet and affecting joints)
- Ekuqaleni kwe-osteoarthritis
- Ukuphulukiswa kwephulo elibi
- I-Mitral valve iyaqhubeka
- Isifo seGum
- Ukulala ngokugqithiseleyo kwemini
- Ukukhathala
- Umgangatho ongenakukhubazeka wobomi
Kunokukunceda ukuhlaziya ii-subtypes ezintandathu ze-EDS ukwenzela ukuba uqonde ngakumbi iimpawu ezinxulumene kunye nobungozi obunokwenzeka.
Ukuqonda ii-Subtypes ezingama-6 ze-Ehlers-Danlos Syndrome
Ngo-1997, kwakukho ukuhlaziywa kokuhlelwa kwamacandelo athile e-Ehlers-Danlos syndrome.
Ngenxa yoko, iintlobo ezi-6 eziphambili ezibonakaliswe yimpawu, iimpawu, izizathu zendalo, kunye neepatheni zelifa zachongwa. Ezi zincinci ziquka:
Uhlobo lwamaClassi: Ifane ngamanxeba ahlukaniswe avule ukuphuma kwegazi, ukushiya iziqwenga ezikhulayo ngexesha lokudala "iphepha lokubhema". Olu hlobo luba nomngcipheko omncinci wokukrazula iinqanawa zegazi. Unayo ilifa elizimeleyo, elichaphazela omnye kuma-20,000 ukuya kuma-40,000 abantu.
Uhlobo lwe-Hypermobility: I-subtype eqhelekileyo ye-EDS, ibonakalisa iimpawu ezibambene ngokubanzi. Liyi-autosomal eliphambili kwaye linokuchaphazela omnye kubantu abayi-10 000 ukuya ku-15,000.
Uhlobo lwe-Vascular: Olunye lweefom ezinzulu kakhulu, lunokubangela ukongela ubomi, ukuthungula (okanye ukuphuka) kwemithambo yegazi. Oku kungabangela ukuphuma kwegazi ngaphakathi, ukuphazamiseka, kunye nokutshitshiswa. Kukho umngcipheko wokwanda komzimba (ochaphazela intlungu kunye nesisu ngexesha lokukhulelwa). Kuyi-autosomal ephezulu, kodwa ichaphazela kuphela abantu abangama-250,000.
Uhlobo lwe-Kyphoscoliosis: Ngokuqhelekileyo lubonakaliswe ngokukhawuleza, ukuhamba kwintsipho engaphazamisa ukuphefumla. Inomngcipheko omncinci wokukhupha iinqanawa zegazi. Kuyi-autosomal eqhekezayo kwaye engaqhelekanga, kunye namaqela angama-60 kuphela achazwe kwihlabathi jikelele.
Uhlobo lwe-Arthrochalasia: Le subtype ye-EDS inokufunyanwa ekuzalweni, kunye nokuxhamla kweembombo ezibangele ukuhanjiswa kwamacala omabini emibini kuboniswe ekunikezeni. Kuyi-autosomal ephezulu kunye neemeko ezingama-30 ezibikwe kwihlabathi jikelele.
Uhlobo lweDermatosparaxis: Ifomu engavumelekanga kakhulu, ibonakalisa isikhumba esineengqungquthela kunye nemibimbi, kubangele iifolda ezingaphezulu eziza kuba zibalaseleyo njengoko abantwana bekhula. Kuyi-autosomal rection and cases only 12 ephawulwe emhlabeni jikelele.
Izikhalazo zokulala kwi-EDS kunye nekhonkco kwi-OSA
Yiyiphi ikhonkco phakathi kwe-Ehlers-Danlos syndrome kunye ne-sleep apnea yokuphazamiseka? Njengoko kuphawuliwe, uphuhliso olungavumelekanga lwe-cartilage luchaphazela amathishu kuwo wonke umzimba, kubandakanywa nalawo ahamba ngendlela. Ezi ngxaki zinokuchaphazela ukukhula nokuphuhliswa kwempumlo kunye ne-maxilla (umhlathi osentla) kunye nokuzinza okuphezulu. Ngokukhula okungaqhelekanga, indlela yokuhamba ngomoya ingancinci, iyancipha, kwaye ilungele ukuwa.
Ukuqhekeka okuqhelekileyo okanye okugqibeleleyo kwendlela yokuhamba yintlambo ephezulu xa ubuthongo bangela ukuba i-apnea yokulala. Oku kunokukhokelela ekuhlaleni kwamanqanaba e-oksijeni yegazi, ukuhlukana kokulala, ukuvuswa rhoqo, kunye nokunciphisa umgangatho wobuthongo. Ngenxa yoko, ubuthongo obuninzi obusuku kunye nokukhathala kungenzeka. Kunokwenyuka izikhalazo zengqondo, imizwa kunye neentlungu. Ezinye izibonakaliso zokuphefumula ukulala, ezifana nokugcoba , ukugubha okanye ukukhahlela, ukubonelela nge-apnea, ukuvusa ukuvuthwa (i- nocturia ), kunye namazinyo okugaya (i-bruxism) ingaba khona.
Uphando olutshanje olulandelayo lwezilwanyana ze-EDS ukususela ngo-2001 luxhasa ubunzima obuninzi bokulala. Kwaqikelelwa ukuba kwalabo abane-EDS, ama-56 ekhulwini ayenzima ukulala. Ukongezelela, iipesenti ezingama-67 zikhalazo ngeempawu zokuhamba . Ubuhlungu, ngokukodwa intlungu ebuyayo, kwaxelwa kakhulu ngabagulane be-EDS.
I-Apnea yokulala eqhelekileyo e-Ehlers-Danlos Syndrome?
Uphando lucebisa ukuba ukulala kancinci kubangeleka phakathi kwalabo abane-EDS. Ucwaningo lwe-2017 lwangama-100 lubonisa ukuba ama-32 ekhulwini abo abane-Ehlers-Danlos syndrome banokuphazamiseka kokuphazamiseka kokulala (xa kuthelekiswa nama-6 ekhulwini olawulo). Laba bantu bachongwa njenge-hypermobile (iipesenti ezingama-46), i-classic (iipesenti ezingama-35), okanye ezinye (iipesenti ezingama-19). Baye baqaphela ukuba banomgangatho okhulayo wokulala emini njengoko kulinganiswa ngamanqaku okulala e-Epworth. Isigulana sokugonya kwe-apnea sihambelana nomgangatho wobuthongo bemini kunye nomgangatho osezantsi wobomi.
Unyango lwe-Apnea yokulala kunye neMpendulo kwiNyango kwi-EDS
Xa i-apnea yokulala ichongiwe, amava asekliniki axhasa impendulo efanelekileyo kunyango phakathi kwezigulane ezine-Ehlers-Danlos syndrome. Njengoko ubudala bukhula, ukuphefumula okuphazamiseka ukulala kunokuguquka kwintlambo ye-airflow kunye nokumelana nokumanya kwiimeko ezibonakalayo ze-hypopnea kunye ne-apnea iziganeko ezibonisa ukuphazamiseka kwe-apnea. Ukuphefumula okungavamile kungabonakali. Ukulala ubusuku, ukukhathala, ukulala okungahambi kakuhle, kunye nezinye iimpawu kunokunakunakwa.
Ngethamsanqa, ukusetyenziswa kwengcinezelo eqhubekayo ye-airway (CPAP) inokunika uncedo ngokukhawuleza ukuba i-apnea yokulala ifunyaniswe kakuhle. Uphando olongezelelweyo lufunekayo ukuvavanya inzuzo yekliniki yokunyangwa kwe-apnea yokulala kula manani.
Ukuba uvakalelwa ukuba unakho iimpawu ezihambelanayo ne-Ehlers-Danlos syndrome kunye nokuphazamiseka kokuphazamiseka kokulala, qalisa ngokuthetha nodokotela wakho malunga nokuvavanya, ukuvavanya, kunye nonyango.
> Imithombo:
> Gaisl T, et al . "Ukukhubazeka kokulala nokuphuculwa komgangatho wobomi kwi-Ehlers-Danlos syndrome: isifundo esifanayo." I-Thorax. 2017 Jan 10.
> Guilleminault C, et al . "Ukuphefumula okuphefumle ukulala e-Ehlers-Danlos syndrome: imodeli yezofuzo ze-OSA." Isifuba. 2013 Nov; 144 (5): 1503-11.
> "I-Ehlers-Danlos syndrome". ILayibrari yeSizwe ka-US yamayeza. 2017 Feb 21.
> Verbraecken J, et al . "Ukuvavanya ukulala kwe-apnea kwizigulane ezine-Ehlers-Danlos syndrome kunye noMarfan: uphando lwemibuzo." I-Clin Genet. 2001 Nov; 60 (5): 360-5.