Izinkinga Zokuphefumula Zokulala Ngenxa Yokwenziwa Kwetilotikali Kulimala E-Airway
Kubonakala kunzima ukukholelwa, kepha ukuhlanganisa ngokuphindwe kabili kube yisibonakaliso sokuthi ungengozini yokuphefumula kokuphefumula kokulala ? I-Ehlers-Danlos syndrome (i-EDS) yisimiso esithinta u-cartilage kuwo wonke umzimba, kufaka phakathi nomoya womoya, futhi lokhu kungahle kwenzeke abantu bahlupheke ukuphefumula okuphazamiseka ukulala, ukulala okuhlukeneyo nokulala ubusuku.
Funda ngezimpawu, ama-subtypes, ukusabalalisa, nokuxhumanisa phakathi kwe-Ehlers-Danlos nokuphefumula kokulala, nokuthi ngabe ukwelashwa kungasiza.
Yini Ehlers-Danlos Syndrome (EDS)?
I-Ehlers-Danlos syndrome (i-EDS), noma i-Ehlers-Danlos disorder, iqoqo lezinkinga ezithinta izicubu ezixhumene nazo ezixhasa isikhumba, amathambo, imithwalo yegazi nezinye izishukela nezinye izitho eziningi. I-EDS yisimo sezakhi zofuzo ezithinta ukuthuthukiswa kwe-collagen kanye namaprotheni ahambisanayo akhonza njengezakhi zokwakha izicubu. Izimpawu zalo zinomthelela omkhulu, okwenza ukuba kube nokuhlanganiswa okuncane kancane ezinkingeni ezisongela ukuphila.
Izinguquko ezingaphezu kwezesishiyagalolunye zezakhi zobulili ziye zaxhunyaniswa nokuthuthukiswa kwe-EDS. Ukungafani kahle kwe-genetic kuthinta imiyalo yokwenza izingcezu ezinhlobonhlobo ze-collagen, into eyenza isakhiwo namandla ukuze izicubu ezihlangene kuwo wonke umzimba. I-collagen namaphrotheni ahlobene angase ahlangane kahle.
Lezi ziphutha ziholela ekubuthakathaka kwezicubu esikhumbeni, amathambo nezinye izitho.
Kukhona kokubili ama-autosomal aphezulu (AD) kanye namafomu we-autosomal (AR) aphindaphindiwe (i-AR), ngokwe-subtype ye-EDS. Efa le-AD, ikhophi eyodwa yegene eguquliwe yanele ukudala lesi sifo. Efa le-AR, kokubili amakhophi wegesi kufanele ashintshwe ukuze isimo senzeke futhi abazali bangase baphathe isakhi kodwa bangaziqedi.
Ukuhlanganiswa kwamafomu ahlukahlukene, i-EDS kulinganiselwa ukuthi iyathinta umuntu oyedwa kwaba-5,000.
Izimpawu ze-Ehlers-Danlos Syndrome
Izimpawu ezihlobene no-Ehlers-Danlos syndrome ziyahlukahluka kuye ngokuthi imbangela engaphansi kanye ne-subtype. Ezinye zezimpawu ezivame kakhulu zihlanganisa:
- Ukungaxhunyiwe okuhlangene: Kungase kube khona uhla olubanzi ngokungavamile lokunyakaza okuhlangene (ngezinye izikhathi kuthiwa "kuhlanganiswe kabili"). Lezi zixhumanisi ezingavamile zingase zizinze futhi zijwayele ukuxoshwa (noma ukuhlukunyezwa) futhi zibangele ubuhlungu obungapheli.
- Izinguquko zesikhumba: Isikhumba singase sibe lula futhi sithokoze. Kuyinto elula kakhulu, enwebekayo futhi enesibindi. Lokhu kungabangela ukulimala okulula nokuqeda okungavamile.
- Iphutha le-muscle elinamandla: Izinsana zingase zibe nemisipha ebuthakathaka ngokulibaziseka ekuthuthukiseni imoto (okuthinta ukuhlala, ukuma nokuhamba).
- Ukwehla kwesibindi ngesikhathi sokuzalwa
- Ubuhlungu obungapheli (kaningi ama-musculoskeletal kanye nama-joints)
- Ukuqala kwe-osteoarthritis
- Ukuphulukiswa okulimazayo okulimazayo
- I-Mitral valve iyaqhubeka
- Isifo se-Gum
- Ukulala ngokweqile kwamalanga
- Ukukhathala
- Ikhwalithi engaphelele yokuphila
Kungasiza ukubuyekeza ama-subtypes ayisithupha we-EDS ukuze uqonde kangcono izimpawu ezihambisanayo nezingozi ezingenzeka.
Ukuqonda ama-Subtypes angu-6 e-Ehlers-Danlos Syndrome
Ngonyaka ka-1997, kwaba nokubuyekezwa kokuhlelwa kwe-subtypes ehlukahlukene ye-Ehlers-Danlos syndrome.
Ngenxa yalokho, izinhlobo eziyisithupha ezinkulu ezihlukaniswe ngezibonakaliso, izimpawu, izimbangela eziphathelene nezifo, kanye namaphethini wefa zikhonjisiwe. Lawa ma-subtypes afaka:
Uhlobo lwama-classic: olufaniswe ngamanxeba ahlukanisa avuleka ngegazi elincane, eshiya izibazi ezikhulisa ngokuhamba kwesikhathi ukudala "iphepha lokubhema" izibazi. Lolu hlobo lubeka ingozi encane yokudwengula izikebhe zegazi. Inayo i-autosomal ifa elikhulu, elichaphazela abantu abayizinkulungwane ezingu-20 kuya ku-40,000.
Uhlobo lokungaqondakali: I-subtype evamile kakhulu ye-EDS, ibonisa izimpawu ezihlangene kakhulu. I-autosomal inamandla futhi ingathinta umuntu oyedwa kubantu abayi-10 kuya ku-15 000.
Uhlobo lwe-Vascular: Olunye lwefomu elibi kakhulu, lingabangela ukusongela, ukungabikho okungaqiniseki (noma ukuphuka) kwemithwalo yegazi. Lokhu kungabangela ukuphuma kwangaphakathi, ukushaywa umoya nokushaqeka. Kukhona ingozi eyengeziwe yokwehla komzimba (okuthinta isisu kanye nesisu ngesikhathi sokukhulelwa). Kuyi-autosomal evelele, kodwa kuthinta kuphela abantu abangu-250,000.
Uhlobo lwe-Kyphoscoliosis: Ngokuvamile lubonakala ukuvinjelwa okukhulu, okuqhubekayo komgogodla ongaphazamisa ukuphefumula. Iphethe ingozi enciphise yokuthumba izikebhe zegazi. Kuyi-autosomal ephindaphindiwe futhi engavamile, enezimo ezingu-60 kuphela ezabikwa emhlabeni wonke.
Uhlobo lwe-Arthrochalasia: Le subtype ye-EDS ingatholakala ngesikhathi sokuzalwa, ngokungahlambuluki kwezinyimba ezibangela ukuhlukaniswa kwezinhlangothi zombili kuboniswe ngesikhathi sokulethwa. I-autosomal ihambisana namacala angaba ngu-30 abikwe emhlabeni wonke.
Uhlobo lwe-Dermatosparaxis: Ifomu eliyinqaba kakhulu, libonisa isikhumba esinezinhlanzi kanye nemibimbi, okubangela amaphuzu engeziwe aphindaphindiwe angase avelele kakhulu njengoba izingane zikhula. I-autosomal ngokweqile ngamacala ambalwa kuphela ashiwo emhlabeni jikelele.
Izikhalazo ku-EDS naku-Link kuya ku-OSA
Iyini isixhumanisi phakathi kwe-Ehlers-Danlos syndrome nokuphefumula kokuphefumula kokulala? Njengoba kuphawuliwe, ukuthuthukiswa okungavamile kwe-cartilage kuthinta izicubu kuwo wonke umzimba, kuhlanganise nalabo abahamba emgwaqweni. Lezi zinkinga zingathinta ukukhula nokuthuthukiswa kwempumu kanye ne-maxilla (umhlathi ophezulu) kanye nokuzinza okuphezulu kwe-airway. Njengoba kukhula okungavamile, indlela yokuhamba emoyeni inganciphisa, ifinyeleleke futhi ijwayele ukuwa.
Ukuwohloka okukodwa okuphelele noma okuphelele kwendiza engenhla ngesikhathi ubuthongo kubangelwa ukulala kwe-apnea. Lokhu kungaholela ekuhlaleni kwamazinga e-oksijeni wegazi, ukuhlukaniswa kokulala, ukuvuswa okuvame kakhulu, kanye nekhwalithi yokulala encane. Ngenxa yalokho, ukulala ngokweqile kwansuku zonke nokukhathala kungenzeka. Kungase kwandiswe izikhalazo ezinengqondo, imizwelo, nobuhlungu. Ezinye izibonakaliso zokuphefumula ukulala, okufana nokugcoba , ukugubha noma ukukhamba, ukubonela i-apnea, ukuvuthwa ( nocturia ), namazinyo okugaya (bruxism) nawo angase abe khona.
Inhlolovo encane ngaphambi kweziguli ze-EDS kusukela ngo-2001 isekela ubunzima obuningi bokulala. Kwacatshangwa ukuthi kulabo abane-EDS, amaphesenti angu-56 abe nobunzima bokugcina ubuthongo. Ngaphezu kwalokho, amaphesenti angu-67 akhononda ngezinyathelo zokulala zesikhashana . Ubuhlungu, ikakhulukazi ubuhlungu be-back, bulokhu bubikwa yiziguli ze-EDS.
I-apnea yokulala ejwayelekile kangakanani Ehlers-Danlos Syndrome?
Ucwaningo lubonisa ukuthi ukuphefumula kokuphefumula kuvamile kulabo abane-EDS. Ucwaningo lwezingu-2017 lwama-100 lubonisa ukuthi amaphesenti angu-32 alabo abano-Ehlers-Danlos syndrome abane-apnea yokulala engavinjelwe (uma kuqhathaniswa namaphesenti angu-6 kuphela okulawula). Laba bantu babhekwa njengama-hypermobile (amaphesenti angu-46), ama-classic (amaphesenti angu-35), noma amanye (amaphesenti angu-19). Bayiqaphele ukuthi banezinga lokulala lokulala kwansuku zonke njengoba kulinganiswa nenombolo yokulala kwe-Epworth. I-degree yokulala i-apnea yokulala ihambisana nezinga lokulala kwansuku zonke kanye nekhwalithi ephansi yokuphila.
Ukwelashwa Kwe-Apnea Yokulala kanye Nempendulo Yezokwelapha ku-EDS
Uma kutholakala i-apnea yokulala, isipiliyoni sezokwelapha sisekela impendulo enhle yokwelapha phakathi kweziguli ezine-Ehlers-Danlos syndrome. Njengoba iminyaka ikhula, ukuphefumula okuphazamisekile ukulala kungase kuguquke ekungeneni kwe-air limkhawulo nokumelana kwamanzi eminye imicimbi ebonakalayo ye-hypopnea ne-apnea ebonisa ukuthi i-apnea yokulala. Lokhu kuphefumula okungavamile kungahle kungabi khona. Ukulala kwamasuku, ukukhathala, ukulala okungalahleki, nezinye izimpawu kungase kunganakwa.
Ngenhlanhla, ukusetshenziswa kokwelapha okuqhubekayo okunamandla okuqhubekayo (CPAP) kunganikeza usizo ngokushesha uma i-apnea yokulala ixilongwa kahle. Ucwaningo olwengeziwe luyadingeka ukuze kuhlolwe umhlomulo wezokwelapha ukuphathwa kwe-apnea yokulala kule ndawo.
Uma uzizwa ungase ube nezimpawu ezihambisana no-Ehlers-Danlos syndrome kanye nokuphefumula kokuphefumula kokulala, qala ngokukhuluma nodokotela wakho mayelana nokuhlolwa, ukuhlolwa, nokwelashwa.
> Imithombo:
> Gaisl T, et al . "I-apnea yokulala engavamile nokulingana nokuphila kwe-Ehlers-Danlos syndrome: isifundo esifanayo esilandelayo." I-Thorax. 2017 Jan 10.
> Guilleminault C, et al . Ukuphefumula kokulala-ku-Ehlers-Danlos syndrome: imodeli yezofuzo ze-OSA. "Isifuba. 2013 Nov; 144 (5): 1503-11.
> "I-Ehlers-Danlos syndrome." I-Reference Home Home Reference. Ilabhulali Kazwelonke Yezokwelapha yase-US. 2017 Feb 21.
> Verbraecken J, et al . "Ukuhlolwa kwe-apnea yokulala ezigulini ezine-Ehlers-Danlos syndrome noMarfan: ucwaningo lwama-questionnaire." I-Clin Genet. 2001 Nov; 60 (5): 360-5.