Ukuphefumula ngezinye izikhathi kungase kungavamile kusuka ekuzalweni. Esimweni esingavamile sezakhi zofuzo, ngokuvamile esibizwa ngokuthi isiqalekiso sika-Ondine, lokhu kungaba yingozi futhi kube nemiphumela ebalulekile. Kuyini isiqalekiso sika-Ondine? Hlola ezinye zezimbangela ezibangelwa ukubeletha phakathi kwe-hypoventilation syndrome nokuthi zingaphathwa kanjani ngokuphumelelayo.
Kuyini ukusoka kuka-Ondine?
Isiqalekiso sika-Ondine (esaziwa nangokuthi u-congenital central hypoventilation syndrome noma i-CCHS) yindlela engavamile, eyinkimbinkimbi yokuphuza i-apnea yokulala lapho umuntu othintekayo eyeka ukuphefumula ngokuphelele lapho elele.
Ngokuvamile kuvuthwa, okusho ukuthi kukhona kusukela ekuzalweni. Kungase kuphawulwe ku-unit neonatal emva kokubeletha. I-apnea yokulala yase-Central ibonakala yi-brainstem engakwazi ukuphefumula ngokuvamile. Lokhu kubonakala kungenxa yokunciphisa ukuphendula okuphezulu kumazinga aphezulu e- carbon dioxide namazinga aphansi oksijini ngaphakathi kwegazi. Lokhu kuba yingozi kakhulu ngesikhathi sokulala.
Isiqalekiso sika-Ondine sabizwa ngokuthi indaba yendabuko mayelana nenhlanhla yamanzi enenhliziyo enomuntu oqalekisa umyeni wakhe ongathembekile ukuba ayeke ukuphefumula uma ephinde alele futhi. Emibhalweni yezokwelapha, i-hypoventilation ephakathi imelela uhlobo olubi kakhulu lwe-apnea yokulala.
Yini eyenza i-Central Hypoventilation?
I-hypoventilation ephakathi ihlasela umuntu oyedwa wezigidi ezingu-30, okusho ukuthi abantu abangamakhulu amaningana banalo emhlabeni. Ngakho-ke, kubhekwe njengesimo esingavamile kakhulu. Ukuguquka kwezakhi zofuzo kubonakala sengathi kuyimbangela eyinhloko.
Kucatshangwa ukuthi kwenzeka uma ubuchopho buhluleka ukuphefumulela ukuphefumula, njengoba kungase kubonakale ekuphefumuleni okuphakathi kokulala .
Lesi simo kungenzeka sibe khona kusukela ekuzalweni noma kungase kuthuthuke ngemuva kokulimala ebuchosheni, obulawula ukuphefumula. I-hypoventilation ephakathi ingase ibhekane nobunzima bokugwinya, izinkinga zamathumbu ezibizwa ngokuthi isifo sikaHirschsprung , noma izicubu ezibizwa nge- neuroblastoma .
Nakuba isimo ngokuvamile senziwa ngokungahleliwe, kungase kube khona ukuthambekela kofuzo okuqhutshwa emindenini. Izihlobo zingaba nesimo esibi kakhulu sokungasebenzi okuthinta isimiso sezinzwa ezizimele. Inkinga ebonakalayo ibonakala ingenxa yokuguqulwa kwegciwane le- PHOX2B (4q13) . Iningi libandakanya ukwandiswa kokuphindaphinda kwezakhi zofuzo ezivela kuma-bases angu-20 (okuthiwa i-alanine) kuya kuma-bases 25 kuya ku-33. Ezingamaphesenti angu-10%, ezinye izinguquko endaweni efanayo zibonakala zidlala indima.
I-Central Hypoventilation iphathwa kanjani?
Abantu abaningi abathintekayo baqala ngokushesha ngemva kokuzalwa. Kuye kwabikwa ukuthi kuqale ngokuhamba kwesikhathi, kodwa, ngisho namacala omdala adalwe. Izimpawu zingase zikhishwe ezimweni ezinzima ngokusebenzisa i-anesthesia noma izidakamizwa.
Ukwelashwa kwalesi simo kuhilela ukusetshenziswa kwe-ventilator ehlangene ne- tracheostomy tube ngaphambili komphimbo lapho umuntu okhuthele elala, ngisho naphakathi kokulala. Uma lokhu kungasetshenzisiwe, umuntu onalezi zimo angafa noma nini lapho elele.
Ngenxa yempilo yokwelashwa, imindeni yalabo abahluphekayo ngokuvamile iba nempumelelo ekulawuleni imishini edingekayo ukuze igcine ukuphefumula okuvamile. Kungase kuqala kubonakale kusabisa, kodwa usizo ngaphakathi kwesibhedlela esibangela ukushintshwa okushelelekile ekwelashweni ekhaya.
Isiqondiso esivela ku-therapists yokuphefumula, kufaka phakathi izinsiza zasendlini, kunganciphisa lokhu kulungiswa.
Izwi elivela
Uma unesithakazelo ekufundeni okwengeziwe ngokuqalekiswa kuka-Ondine, ikakhulukazi uma unezingane ezithintekile, kunconywa ukuthi ucabangele ukubonisana ne-pulmonologist yengane esikhungweni sezokwelapha. Ngenxa yokungabi nalutho kwalesi simo, kanye nokungathí sina kwemiphumela engaba khona, ukunakekelwa kwengcweti kuyodingeka kuqala. Kungenzeka futhi ukuxhumana nabanye emindenini ethintekile abaphatha lesi simo. Lokhu kusekelwa kwezenhlalo kungaba usizo ngezizathu eziningi.
Finyelela ukuthola usizo oludingayo ochwepheshe ukuze ukwandise impilo nenhlalakahle yengane yakho nomndeni wakho.
> Imithombo:
> Amiel J et al . "Ukwandiswa kwe-polyalanine nokuguqulwa kwe-frameshift yegciwane le-homeobox le-homeobox elihlanganisiwe eliphakathi kwe- PHOX2B e-congenital central hypoventilation syndrome." Nat Genet 2003; 33 (4): 459-461.
> Chen ML, uKeens TG. "I-congenital central hypoventilation syndrome: hhayi nje enye ingozi engavamile." I-Paediatr Respir Rev 2004; 5 (3): 182-189.
> Faraco J noMignot E. "Izifo Zokulala Nokulala Kwabantu." Ezimisweni Nemikhuba Yokulala Imithi , Elsevier, 2011, iphe. 93-94.