Ukuphefumula ngamanye amaxesha kunokuba kungavamile ukuzalwa. Kwiimeko ezingaqhelekanga zezofuzo, ezidla ngokubizwa ngokuthi isiqalekiso sika-Ondine, oku kunokubaluleka kakhulu kwaye kube nemiphumo ebalulekileyo. Yintoni isiqalekiso sika-Ondine? Hlola ezinye zezizathu ezinokubangela i-hypoentilation syndrome ye-congenital kunye nendlela yokuphathwa ngempumelelo.
Uphiko lwe-Ondine?
Isiqalekiso sika-Ondine (esaziwa ngokuba yi-congenital central hypoventilation syndrome okanye i-CCHS) yindlela engabonakaliyo, enobulunga bokulala , apho umntu ochaphazelekayo eyeke ukuphefumla xa elala.
Ngokuqhelekileyo i-congenital, intsingiselo yokuba ikhona ukusuka ekuzalweni. Ingabonakala kwiyunithi ye-neonatal emva kokunikezelwa. I-apnea yokulala ebumbini ibonakala yi-brainstem engakwazi ukuphefumula ngokuqhelekileyo. Oku kubonakala ngathi ngenxa yokunciphisa ukuphendula kumanqanaba aphezulu e- carbon dioxide kunye namaqondo aphantsi oksijini ngaphakathi kwegazi. Oku kuba yingozi ngakumbi ngexesha lokulala.
Isiqalekiso sika-Ondine sabizwa ngebali eliyingqungquthela malunga nomnxeba wamanzi oyintliziyo othuka umyeni wakhe ongathembekanga ukuba ayeke ukuphefumla xa athe walala kwakhona. Kwiimpawu zonyango, i-hypoventilation ephakathi ibonisa uhlobo olugqithiseleyo lwe-apnea yokulala.
Yintoni ebangela iCentral Hypoventilation?
I-hypoventilation ephakathi ichaphazela malunga nabantu abayizigidi ezingama-30, oku kuthetha ukuba abantu abangamakhulu amaninzi banalo kwihlabathi. Ngaloo ndlela, kuthathwa njengesimo esinqabileyo kakhulu. Ukuguquka kwemfuyo kubonakala kubangelwa imbangela.
Kucatshangelwa ukuba kwenzeke xa ubuchopho buhluleka ukuphefumula, njengoko kubonakala nakwi- central apnea yokulala .
Le meko ingaba khona ukusuka ekuzalweni okanye inokuphuhliswa emva kokulimala kwi-brainstem, eyayilawula ukuqhuma. I-hypoventilation ephakathi iyakunxulumene nobunzima bokugwinya, iingxaki zamathumbu ezibizwa ngokuba yi- Hirschsprung's disease , okanye i-tumors ebizwa nge- neuroblastoma .
Nangona imeko idla ngokuphindaphindiweyo, kunokuthi kubekho ukukhubazeka kwemfuyo ehamba kwiintsapho. Izihlobo zinobuhlobo obunzima bokungasebenzi obuchaphazela inkqubo ye-nervous autonomic system. Ingxaki ebonakalayo ibonakala ngenxa yokuguqulwa kwimizimba ye- PHOX2B (4q13) . Ininzi ibandakanya ukunyuka kokuphindaphinda kwemfuza ukusuka kwiisiseko ezingama-20 (ezibizwa ngokuba yi-alanine) ukuya kumaziko angama-25 ukuya kuma-33. Kwi-10% yamatyala, ezinye iinguqu kwiindawo ezifanayo zibonakala zidlala indima.
I-Central Hypoventilation ithathwa njani?
Uninzi lwabantu abachaphazelekayo luqala ngokukhawuleza emva kokuzalwa. Kubikwe ukuba kuqalwe kamva, nangona kunjalo, kunye neemeko zabantu abadala. Iimpawu ziyakuthi zikhutshwe kwiimeko ezinzima ngokusetyenziswa kwe-aneshesia okanye izidalwa zokuzikhusela.
Unyango lwalo mqathango luquka ukusetyenziswa kwefenisi exhunywe kwi-tube tracheostomy phambi komqala xa umntu ochaphazelekayo elala, nangona ngexesha lokulala. Ukuba oku kungasetyenziswanga, umntu onale meko angafa nanini na xa elala.
Ngenxa yobume bonyango, iintsapho zalabo bahluphekileyo zihlala zikwazi ukulawula izixhobo ezifunekayo ukuze kugcinwe ukuphefumula ngokuqhelekileyo. Kungenokwenzeka ukuba okokuqala kubonakale kusongela, kodwa uncedo kwisimo esibhedlele senza uguqulelo olungapheliyo kunyango ekhaya.
Isikhokelo esivela kumaphilisi okuphefumula, kubandakanywa nezibonelelo zasemakhaya, kunokunciphisa olu lungiso.
ILizwi
Ukuba unomdla wokufunda okungakumbi malunga nesiqalekiso sika-Ondine, ngokukodwa ukuba unomntwana ochaphazelekayo, kucetyiswa ukuba uqwalasele ukubonisana ne-pulmonologist yabantwana kwiziko lempilo. Ngenxa yobunzima beemeko, kunye nobunzulu beemiphumo ezinokubakho, kunyamekelwa kwengcali iza kuqala. Kwakhona kunokwenzeka ukuba kunxibelelane kunye nezinye iintsapho ezichaphazelekayo ezilawula imeko. Inkxaso yentlalo ingaba luncedo kwizizathu ezininzi.
Fumana ukufumana uncedo olufunayo kwizodwa ukuze uphucule impilo kunye nenhlalakahle yomntwana wakho kunye nosapho.
> Imithombo:
> Amiel J et al . Ukwandiswa kwePolyalanine kunye nokuguqulwa kwesimo se-homeobox gene PHOX2B kwi-congenital central hypoventilation syndrome. " Nat Genet 2003; 33 (4): 459-461.
> Chen ML, uKeens TG. "I-hypoentilation syndrome ye-congenital central: ayikho enye ingxaki engavamile." I-Paediatr Respir Rev 2004; 5 (3): 182-189.
> Faraco J kunye noMignot E. "I-Genetic Sleep and Disorders in People." Kwiimigaqo kunye nemiSebenzi yokuLawula iMithi , uElsevier, 2011, iphe. 93-94.