Ukuqina Kwe-Cystic Fibrosis? Izimpawu, Izimbangela, Nokwelashwa

I-cystic fibrosis yisimo se-genetic esithinta indlela umzimba wakho okwenza ngayo i-mucus ne-sweat. Esikhundleni sokukhiqiza i-mucus ebuthakathaka, ephuma kalula esiza ekuvikeleni amalungu akho, abantu abane-cystic fibrosis benza i-mucus ebukhulu, enamathelayo engavimba imigwaqo ebalulekile emaphaphwini nesistimu yokugaya ukudla.

Lesi simo siyinto ozalwa nayo, idluliselwa emindenini nge-genes zombili abazali. Nakuba kuyisimo esinzima sokuphila konke, ukuqonda kangcono kungakusiza wena noma abathandekayo bakho ukuyilawula ngokuphumelelayo futhi uphile impilo egcwele.

Iyini i-Cystic Fibrosis?

I-cystic fibrosis kwenzeka lapho kokubili amakhophi e-gene ethile ebizwa nge-CFTR angasebenzi kahle. Le gene ivame ukusisiza ukulawula ukulingana kwesoda namanzi ezicellini zakho. Uma ingalungile, umzimba wakho ukhumula ukukhipha okunamathelayo okungavamile.

Cabanga nge-mucus evamile njengokugqoka okuvikelayo okuphuma kalula. Ku-cystic fibrosis, le mucus iba njenge-paste ebukhulu. Lokhu kuthinta ikakhulukazi amaphaphu akho nesistimu yokugaya ukudla, nakuba amanye amalungu angahileleka futhi.

Lesi simo sithinta cishe 1 ku-2,500 kuya ku-3,500 abazalwayo, okwenza kube ngesinye sezifo ezinkulu ze-genetic ezivamile. Sithinta abantu bazo zonke izizwe, nakuba kubonakala kakhulu kulabo abavela eYurophu enyakatho.

Ziyini Izimpawu ze-Cystic Fibrosis?

Izimpawu ze-cystic fibrosis zingase zihluke kakhulu kumuntu nomuntu, futhi zivame ukuncika ekutheni yimaliphi amalungu athinteka kakhulu. Abanye abantu banezimpawu ezilula ezikhula kancane, kanti abanye baba nezinkinga ezibonakalayo ekuqaleni kokuphila.

Nazi izimpawu eziyinhloko ongaziqaphela esistimu yokuphefumula:

• Ukuhlanza okuqhubekayo okukhipha i-mucus ebukhulu, enamathelayo
• Ukutheleleka kwamaphaphu okuphindaphindayo njenge-pneumonia noma i-bronchitis
• Ukufiphaza noma ukuphefumula kancane ngesikhathi semisebenzi yansuku zonke
• Ikhala elivalekile noma ukutheleleka kwesinuses okuphindaphindayo
• Ama-nasal polyps (ukukhula okuncane ngaphakathi ekhaleni)

Izimpawu zokugaya ukudla zingabalulekile ukubona:

• Izisu ezinamafutha, ezinkulu okunzima ukuzihlanza
• Ukukhula okubi kobunzima naphezu kokuba nokudla okuhle
• I-constipation eqinile, ikakhulukazi kubantwana abasanda kuzalwa
• Ubuhlungu besisu noma ukugcwala ngemuva kokudla
• Ukubona ukunambitheka kwesoda lapho uqabulana nomuntu

Abanye abantu nabo baba nezimpawu ezingavamile ezingase zikhule ngokuhamba kwesikhathi. Lezi zingase zihlanganise i-diabetes (njengoba i-pancreas ingathinteka), izinkinga zesibindi, noma izinkinga zokuzala ebuntwini. Into ebalulekile okumele uyikhumbule ukuthi ukuqaphela kwasekuqaleni nokwelashwa kwenza umehluko omkhulu ekulawuleni lezi zimpawu ngokuphumelelayo.

Ziyini Izinhlobo ze-Cystic Fibrosis?

I-cystic fibrosis ayinazo ngempela “izinhlobo” ngendlela evamile, kodwa odokotela bayihlela ngokusekelwe ekutheni yiziphi izimpawu ezivelele kakhulu. Lokhu kubasiza ukuba benze uhlelo lokwelapha oluhle kakhulu sesimo somuntu ngamunye.

Uhlobo oluvamile kakhulu lugxile ezistimwini eziyinhloko zamalungu athintekayo. Abanye abantu banezimpawu ezihlobene namaphaphu ikakhulukazi, ngokutheleleka kwamaphaphu okuphindaphindayo nobunzima bokuphumula kuyizimbangela zabo eziyinhloko. Abanye bangaba nezinkinga zokugaya ukudla, ngezinkinga zokuthola izondlo nokugcina isisindo esinempilo.

Abantu abaningi baba nokuhlanganiswa kokubili kwezimpawu zokuphefumula nokuhlanza. Kukhona futhi uhlobo olungavamile lapho abantu banezimpawu ezilula ezingase zingabonakali kuze kube yilapho sekukhulu. Laba bantu bavame ukuba nomsebenzi omuhle wamaphaphu kodwa bangase basadinga ukunakekelwa okuqhubekayo nokuqapha.

Yini ebangela i-Cystic Fibrosis?

I-cystic fibrosis ibangelwa izinguquko (izinguquko) ku-gene ebizwa nge-CFTR, emele i-Cystic Fibrosis Transmembrane Conductance Regulator. Le gene ivame ukusisiza ukulawula indlela isoda namanzi ehambayo ngaphakathi nangaphandle kwezisele zakho.

Ukuze umuntu abe ne-cystic fibrosis, kudingeka athathe ikhophi enye ye-gene eyonakele kumzali ngamunye. Uma uthola ikhophi eyodwa eyonakele, ubizwa ngokuthi “umthwali” kodwa ngokuvamile ngeke ube nezimpawu.

Kunezinguquko ezingaphezu kuka-1,700 ezahlukene ezingathinta i-CFTR gene, nakuba ezinye zivame kakhulu kunabanye. Uguquko oluvamile kakhulu, oluthiwa yi-F508del, luqondisa cishe u-70% wezimo emhlabeni jikelele. Uguquko ngalunye lungathinta ukuthi lesi simo sithinta kanjani impilo yomuntu.

Lokhu kuyisimo se-genetic kuphela, okusho ukuthi akubangelwa yilutho abazali abalwenzile noma abangazange balwenze ngesikhathi sokukhulelwa. Akukhuthazeki, ngakho awukwazi ukuyithola kumuntu othile noma uyidlulisele kwabanye.

Nini Okufanele Ubone Udokotela Nge-Cystic Fibrosis?

Kufanele uxhumane nodokotela uma uqaphela izimpawu zokuphefumula noma zokugaya ukudla eziqhubekayo, ikakhulukazi kubantwana. Ukuhlanza okuhlala isikhathi esingaphezu kwamasonto ambalwa, kukhipha i-mucus ebukhulu, noma kuqhubeka kubuyela kudinga ukunakekelwa kwezokwelapha.

Phawula ngokukhethekile izimpawu ezibonakalayo zokugaya ukudla njengezisu ezinamafutha kakhulu, ezinobukhulu, noma ezinuka kakhulu. Ukukhula okubi kobunzima kubantwana naphezu kokudla okuhle kuyisibonakaliso esibalulekile okungafanele siyeketishwe.

Uma unemlando womndeni we-cystic fibrosis, ukwelulekwa kwe-genetic kungakusiza ukuqonda izingozi zakho ngaphambi kokuhlela ukukhulelwa. Imibhangqwana eminingi ithola lolu lwazi luncedo ekwenzeni izinqumo ezinolwazi mayelana nokuhlela umndeni wabo.

Kwabo abasesevele banesifo, ukuhlolwa okujwayelekile kubalulekile ngisho noma uzizwa kahle. Ukwelashwa kwasekuqaleni kwezinkinga kuvame ukuvimbela izinkinga ezinkulu ngokuhamba kwesikhathi.

Ziyini Izingozi ze-Cystic Fibrosis?

Ingozi eyinhloko ye-cystic fibrosis ukuba nabazali abathwala kokubili i-CFTR gene eyonakele. Njengoba lokhu kuyisimo se-genetic esibuthakathaka, womabili abazali kufanele badlulisele ikhophi ye-gene eguqukile ukuze ingane yabo ithuthukise lesi simo.

Ubuzwe budlala indima amazinga ezingozi, nakuba i-cystic fibrosis ingathinta abantu banoma yiluphi uhlobo:

• Abamhlophe baseYurophu enyakatho banezingozi eziphezulu (cishe 1 ku-25 abantu bangabathwali)
• Ama-Hispanic Americans anezinga lomthwali elingu-1 ku-46
• Ama-African Americans anezinga lomthwali elingu-1 ku-65
• Ama-Asian Americans anezinga lomthwali eliphansi kakhulu elingu-1 ku-90

Ukuba nelungu lomndeni eline-cystic fibrosis kukwandisa amathuba akho okuba ngumthwali. Uma uhlela umndeni futhi unesizungu mayelana nezingozi ze-genetic, ukukhuluma nomxhumanisi we-genetic kungakunika ulwazi oluyigugu nokuthula kwengqondo.

Ziyini Izingozi Ezingaba khona ze-Cystic Fibrosis?

Nakuba ukucabanga ngezingozi kungase kuzwakale kukucindezela, ukuziqonda kusiza ukusebenza neqembu lakho lezokunakekelwa kwezempilo ukuze uzivimbele noma uzilawule ngokuphumelelayo. Izinkinga eziningi zikhula kancane kancane futhi zingaphathwa uma zitholakala kwasekuqaleni.

Izingozi zokuphefumula zivame ukukhathaza kakhulu:

• Ukutheleleka kwamaphaphu okuqhubekayo okungalimaza i-lung tissue ngokuhamba kwesikhathi
• Iphaphu eliwa (pneumothorax) emoyeni ophuma emgodini wesifuba
• Ukwehluleka kokuphefumula ezimweni eziphambili
• I-sinusitis eqhubekayo nama-nasal polyps

Izingozi zesimiso sokuhlanza ukudla zingathinta kakhulu ukudla nokunambitheka kokuphila:

• Ukwehluleka kwe-pancreatic, okwenza kube nzima ukugaya amafutha namaprotheni
• I-diabetes lapho i-pancreas ingakhiqizi i-insulin eyanele
• Isifo sesibindi esivela emithanjeni ye-bile evaliwe
• Ukuvimbela kwamathumbu, ikakhulukazi kubantwana abasanda kuzalwa
• Ukwehluleka okukhulu kokudla naphezu kokudla okuhle

Izingozi ezingavamile kodwa eziyigugu zihlanganisa izinkinga emathanjeni (osteoporosis), izinkinga zokuzala kubantu besilisa nabesifazane, nokuphelelwa amanzi okukhulu ngesikhathi sezulu esishisayo noma ukugula. Izindaba ezimnandi ukuthi ngokunakekelwa kwezokwelapha okufanele, abantu abaningi abane-cystic fibrosis baphila kahle kuze kube yilapho sekukhulu futhi baphila impilo esebenzayo, egcwele.

I-Cystic Fibrosis Ingavikeleka Kanjani?

Njengoba i-cystic fibrosis iyisimo se-genetic, ayikwazi ukuvinjelwa ngendlela evamile. Noma kunjalo, ukwelulekwa kwe-genetic nokuhlolwa kungasiza abazali abazayo ukuqonda izingozi zabo futhi benze izinqumo ezinolwazi mayelana nokuhlela umndeni.

Uma uhlela ukukhulelwa futhi unemlando womndeni we-cystic fibrosis, ukuhlolwa komthwali kungabonisa ukuthi wena nomlingani wakho kokubili nithwala i-gene. Lolu hlolo lwegazi olucacile lungakunika ulwazi oluyigugu ngezinqumo zokuhlela umndeni.

Kwabantu ababili abathwali, izinketho zihlanganisa ukuhlolwa kwangaphambi kokuzalwa ngesikhathi sokukhulelwa, ukuhlolwa kwe-genetic kwangaphambi kokufakwa nge-in vitro fertilization, noma ukusebenzisa amaqanda noma isidoda. Umxhumanisi we-genetic angakusiza ukuqonda lezi zinketho ngaphandle kokucindezela noma ukwahlulela.

Izifundazwe eziningi manje zihlanganisa i-cystic fibrosis emiqondweni yokuhlola abazalwayo, okusho ukuthi ukuqaphela kwasekuqaleni nokwelashwa kungaqala ngokushesha uma ingane izalwa nalesi simo.

I-Cystic Fibrosis Ihlonishwa Kanjani?

Ukuhlola i-cystic fibrosis kuvame ukubandakanya ukuhlolwa okuhlukahlukene okusebenza ndawonye ukunika odokotela isithombe esicacile. Ukuhlolwa kwe-sweat kubhekwa njengokuyigugu kakhulu futhi kuqapha inani lesoda e-sweat yakho.

Ngesikhathi sokuhlolwa kwe-sweat, indawo encane yesikhumba (ngokuvamile engalweni) ikhuthazwa ukuba ikhiphe i-sweat usebenzisa umfutho wamagetsi olukhulu. I-sweat bese iqoqwa futhi ihlolwe ngenani lesoda. Abantu abane-cystic fibrosis banezinga lesoda eliphezulu kakhulu e-sweat yabo kunokuvamile.

Ukuhlolwa kwe-genetic kungabonisa izinguquko ezithile ku-CFTR gene. Lokhu kuwusizo ikakhulukazi lapho imiphumela yokuhlolwa kwe-sweat ingacaci noma lapho kunomlando womndeni onamandla wesimo. Ukuhlolwa kwegazi kungabonisa izinguquko ze-genetic ezivamile ezihlobene ne-cystic fibrosis.

Ukuhlolwa okwengeziwe kungase kuhlanganise ukuhlolwa komsebenzi wamaphaphu ukubona ukuthi amaphaphu akho asebenza kahle kangakanani, ama-X-rays esifuba ukubuka ukulimala kwamaphaphu, namasampula ezisu ukuhlola izinkinga zokugaya ukudla. Udokotela wakho angase futhi ahlele ukuhlolwa ukuhlola umsebenzi we-pancreas wakho kanye nesimo sakho sonke sokudla.

Iyini Ukwelashwa kwe-Cystic Fibrosis?

Ukuphathwa kwe-cystic fibrosis kugxile ekulawuleni izimpawu, ukuvimbela izinkinga, nokugcina ikhwalithi yempilo engcono kakhulu. Nakuba ayikho indlela yokwelapha okwamanje, ukwelashwa kuye kwaqhubeka kakhulu futhi kuqhubeka nokuba ngcono.

Ukuhlanza kwe-airway kuyisisekelo sokwelapha kokuphefumula. Lokhu kubandakanya amasu namadivayisi asiza ekuqedeni nasekususeni i-mucus ebukhulu emaphaphwini. Iqembu lakho lezokunakekelwa kwezempilo lizokufundisa imisebenzi ethile yokuphefumula futhi lingase likucele amadivayisi afana nama-vibrating vests noma ama-handheld oscillators.

Imithi idlala indima ebalulekile ekulawuleni lesi simo:

• Ama-mucus thinners asiza ukwenza ukukhipha kube lula ukuhlanza
• Ama-bronchodilators avula imigwaqo yokuphumula ukuze kube lula ukuphumula
• Imithi yokulwa nokuvuvukala inquma ukuvuvukala kwamaphaphu
• Ama-antibiotics aphatha futhi avikele ukutheleleka kwamaphaphu
• Ama-CFTR modulators (imithi emisha) asiza iprotheni eyonakele ukusebenza kangcono

Ukuphathwa kokugaya ukudla kuvame ukubandakanya ukwengeza ama-pancreatic enzyme ngesikhathi sokudla ukuze kusize ekugayeni ukudla kahle. Amavithamini afutha (A, D, E, ne-K) avame ukudingeka njengoba umzimba uba nezinselelo ekuwatholeni ngokwemvelo.

Ukusekelwa kokudla kubalulekile, kuvame ukudinga ukudla okunamafutha aphezulu, okunamafutha aphezulu ukuze kugcinwe isisindo esinempilo. Ukusebenza nodokotela wezondlo oqonda i-cystic fibrosis kungenza umehluko omkhulu ekulawuleni izidingo zokudla ngokuphumelelayo.

Indlela Yokwelapha Ekhaya Ngesikhathi se-Cystic Fibrosis?

Ukulawula i-cystic fibrosis ekhaya kudinga ukwakha izindlela zansuku zonke eziyoba njengokuhlambalaza amazinyo. Ikhona ukulandela kunokuphelela, futhi imizamo emincane yansuku zonke ihlanganiswa nezinzuzo ezinkulu ngokuhamba kwesikhathi.

Ukuhlanza kwe-airway kufanele kwenzeke okungenani kabili ngosuku, nakuba udokotela wakho angase akukhuthaze ukuthi wenze izikhathi eziningi ngesikhathi sokugula. Thola amasu asebenza ngendlela yakho yokuphila, kungaba ukusebenzisa i-vibrating vest ngenkathi ubuka i-TV noma ukwenza imisebenzi yokuphefumula eshawa.

Ukugcina umzimba uqinisile kubalulekile, ikakhulukazi ngesikhathi sezulu esishisayo noma uma ugula. Umzimba wakho ulahlekelwa yisoda eningi kunokuvamile, ngakho-ke kungase kudingeke ungeze isoda eyengeziwe ekudleni kwakho noma usebenzise izixazululo zokubuyisela amanzi ngesikhathi sokugula noma ukushisa okukhulu.

Ukuzivocavoca kuwusizo kakhulu emsebenzini wamaphaphu nasempilweni yonke. Ukubhukuda, ukuhamba, ukujika ibhayisikili, noma noma iyiphi imisebenzi oyithandayo kungasiza ekuqedeni i-mucus nokuqinisa imisipha yakho yokuphefumula. Qala kancane futhi wakhe kancane ngesikhathi sokuqondisa udokotela wakho.

Gcina idayari yezimpawu ukuze uqaphele izindlela empilweni yakho. Qaphela izinguquko ekuhlanzweni, amazinga kwamandla, noma ukudla. Lolu lwazi lusisiza iqembu lakho lezokunakekelwa kwezempilo ukulungisa ukwelashwa nokubamba izinkinga kwasekuqaleni.

Kufanele Uzilungiselele Kanjani Ukuya Kulodokotela?

Ukulungiselela ukuya kwakho kusiza ukwenza okuningi ngesikhathi sakho neqembu lakho lezokunakekelwa kwezempilo. Qala ngokubhala phansi izimpawu oziqaphelayo kusukela ekuhambeni kwakho kokugcina, kuhlanganise nokuthi zaqala nini nokuthi yini ezizenza zibe ngcono noma zimbi.

Letha uhlu lwemithi yonke, izithasiselo, nokuphathwa okuwasebenzisayo. Faka ukuthi ubathatha kangaki nanoma yiziphi izingozi ozihlangabezane nazo. Ungakhohlwa ukukhuluma ngemithi yokuthengwa ngaphandle komthetho kanye nezithasiselo zezitshalo.

Lungisa imibuzo kusengaphambili ukuze ungakhohlwa ukukhathazeka okubalulekile ngesikhathi sokuya kudokotela. Imibuzo evamile ingase ihlanganise ukubuza ngokwelashwa okusha, ukuxoxa ngokulinganiselwa kwemisebenzi, noma ukucacisa imiyalelo yemithi.

Uma kungenzeka, letha ilungu lomndeni noma umngani ukuze akusize ukukhumbula ulwazi oluxoxwe ngesikhathi sokuya kudokotela. Ukuya kudokotela kungase kuzwakale kukucindezela, futhi ukuba nokusekelwa kungakusiza ukucubungula konke ngokuphumelelayo.

Qoqa noma yimiphi imiphumela yokuhlolwa noma amarekhodi ezempilo evela kwabanye abahlinzeki kusukela ekuhambeni kwakho kokugcina. Lokhu kunika udokotela wakho isithombe esiphelele sesimo sakho samanje sempilo nanoma yiziphi izinguquko ezenzeke.

Iyini Iphuzu Eliyinhloko Mayelana ne-Cystic Fibrosis?

I-cystic fibrosis iyisimo esinzima se-genetic, kodwa akuyona isiphithiphithi ekuphileni impilo enenjongo, esebenzayo. Ngokunakekelwa kwezokwelapha okufanele, izindlela zokuphatha zansuku zonke, kanye nezinhlelo zokusekela ezinamandla, abantu abaningi abane-cystic fibrosis balandela imfundo, imisebenzi, ubuhlobo, nemisebenzi abayithandayo.

Into ebaluleke kakhulu okumele uyikhumbule ukuthi ukuqaphela kwasekuqaleni nokuphathwa okuqhubekayo kwenza umehluko omkhulu ezimpumelelweni zesikhathi eside. Uma ucindezela i-cystic fibrosis kuwe noma othandekayo, ukufuna ukuhlolwa kwezokwelapha ngokushesha kungasetha isikhundla sokuphathwa kangcono kwempilo.

Ucwaningo luqhubeka nokuletha ithemba elisha, ngokwelashwa okuthuthuka njalo nemithi emisha eya.

Khumbula ukuthi ukuphathwa kwe-cystic fibrosis kuyimisebenzi yeqembu ebandakanya wena, umndeni wakho, nabaphakeli bakho bezempilo. Ukuxhumana okuvulekile, ukunakekelwa okuqhubekayo, nokuhlala unolwazi ngesimo sakho kuyizixhobo zakho ezinhle kakhulu zokuphila kahle ne-cystic fibrosis.

Imibuzo Evamile Mayelana ne-Cystic Fibrosis

Ingabe abantu abadala bangathuthukisa i-cystic fibrosis kamuva ekuphileni?

Cha, i-cystic fibrosis iyisimo se-genetic ozalwa nayo. Noma kunjalo, abanye abantu banezinhlobo ezilula ezingabonakali kuze kube yilapho sekukhulu. Laba bantu bangase babe nezimpawu ezincane iminyaka eminingi ezazibhekwa njengezinye izimo njenge-asthma noma ukutheleleka okuphindaphindayo kokuphefumula.

Ingabe i-cystic fibrosis ikhuthazeka?

I-cystic fibrosis ngokwayo ayikhuthazeki nhlobo njengoba kuyisimo se-genetic. Noma kunjalo, abantu abane-cystic fibrosis banesifo esikhulu sezifo zobhaktheriya, futhi lezi zifo zingase zithatheke phakathi kwabantu abane-cystic fibrosis. Kungakho izindlela zokulawula ukutheleleka kubalulekile ezindaweni zokunakekelwa kwezempilo nasemaqenjini e-CF.

Ingabe abantu abane-cystic fibrosis bangaba nezingane?

Abantu abaningi abane-cystic fibrosis bangaba nezingane, nakuba ukubona kungase kuthinteke. Cishe u-95% wamadoda ane-cystic fibrosis anezingozi zokuzala ngenxa yemithambo yesidoda evaliwe, kodwa ubuchwepheshe bokuzala obusiziwe bungasiza ngokuvamile. Abafazi abane-cystic fibrosis bangase babe nokuncipha okuncane kokuzala kodwa bangase bakwazi ukuthola ngokwemvelo ngokuphathwa kahle kwempilo.

Iyini isikhathi sokuphila somuntu onecystic fibrosis?

Isikhathi sokuphila siye saqhubeka kakhulu eminyakeni embalwa edlule. Okwamanje, isikhathi esilinganiselwe sokuphila esilinganiselwe sisezingeni eliphezulu kwama-40 futhi siqhubeka nokukhula njengoba ukwelashwa kuqhubeka nokuba ngcono. Izinto eziningi zithinta imiphumela yomuntu ngamunye, kuhlanganise nokuthi ukwelashwa kuqala nini, ukufinyelela ekunakekelweni okukhethekile, nokuphathwa kwempilo yonke.

Ingabe abantu abane-cystic fibrosis kudingeka bagweme imisebenzi ethile?

Abantu abaningi abane-cystic fibrosis bakhuthazwa ukuba bahlale besebenzayo, njengoba ukuzivocavoca kuwusizo emsebenzini wamaphaphu. Noma kunjalo, imisebenzi kufanele iguqulwe ngokusekelwe emsebenzini wamaphaphu yomuntu ngamunye nempilo yonke. Ukubhukuda kuvame ukuba yimisebenzi emihle kakhulu, kanti imisebenzi ezindaweni ezinithile noma ezingcolile kungase kudingeke ukuba ibe mncane. Iqembu lakho lezokunakekelwa kwezempilo lingakunika izikhuthazo zemisebenzi eziqondene nawe.