Icystic fibrosis

ICystic fibrosis sisifo esidala ukuba sinyibilike, sincamathele kwi-mucus emiphungeni, kumgudu wokugaya ukutya nakwezinye iindawo zomzimba. Sisinye sezifo zemiphunga ezingapheliyo ebantwaneni nakubantu abadala abancinci. Sisifo esisongela ubomi.

ICystic fibrosis (CF) sisifo esidluliswa kwiintsapho. Kubangelwa yimfuza enesiphene eyenza ukuba umzimba uvelise ulwelo olungqindilili ngokungaqhelekanga kunye nokuncangathi, okubizwa ngokuba yinyama. Le ncindi yakhela kwiipase zokuphefumla zemiphunga nakwipancreas.

Ukuqokelelana kwencindi kukhokelela kusulelo olusongela ubomi emiphungeni kunye neengxaki ezinzulu zokugaya. Esi sifo sinokuchaphazela amadlala okubila kunye nenkqubo yokuzala yendoda.

Abantu abaninzi baphatha imfuza yeCF, kodwa abanazimpawu. Kungenxa yokuba umntu oneCF kufuneka azuze njengelifa izakhi zofuzo ezi-2, 1 kumzali ngamnye. Abanye abantu baseMelika bane-gene ye-CF. Kuqheleke kakhulu phakathi kwabo basentla okanye kumbindi weYurophu.

Uninzi lwabantwana abane-CF bafunyaniswa beneminyaka emi-2 ubudala, ngakumbi ukuvavanywa komntwana osandul 'ukuzalwa kwenziwa kulo lonke elaseMelika. Inani elincinci, esi sifo asifumaneki de kube li-18 okanye ngaphezulu. Aba bantwana bahlala benesi sifo.

Iimpawu kwiintsana ezisanda kuzalwa zingabandakanya:

• Ukukhula okulibazisekileyo
• Ukusilela ukutyeba ngokwesiqhelo ebuntwaneni
• Akukho kushukuma kwamathumbu kwiiyure zokuqala ezingama-24 ukuya kuma-48 zobomi
• Ulusu olunencasa enetyiwa

Iimpawu ezinxulumene nokusebenza kwamathumbu zingabandakanya:

• Intlungu yesisu ukusuka ekuqunjelweni
• Ukunyuka kwegesi, ukubhubhisa, okanye isisu esibonakala sivuvuka (siphume)
• Isicaphucaphu kunye nokuphelelwa ngumdla wokutya
• Izimbo ezimdaka okanye ezinombala wodongwe, ezinuka kakubi, ezinencindi okanye ezidadayo
• Ukuhla ukusinda

Iimpawu ezinxulumene nemiphunga kunye nezono zinokubandakanya:

• Ukukhohlela okanye ukonyusa i-mucus kwizono okanye kwimiphunga
• Ukudinwa
• Ukuxinana kwempumlo okubangelwa ziipolyps zempumlo
• Iziqendu eziphindaphindiweyo zenyumoniya (iimpawu zenyumoniya kumntu one-cystic fibrosis zibandakanya umkhuhlane, ukunyuka kokukhohlela kunye nokuphefumla kancinci, ukwanda kwencindi kunye nokuphelelwa ngumdla)
• Iintlungu zesinus okanye uxinzelelo olubangelwa lusulelo okanye iipolyps

Iimpawu ezinokuthi ziqaphele kamva ebomini:

• Ukungachumi (emadodeni)
• Ukuphindaphinda ukudumba kwepancreas (pancreatitis)
• Iimpawu zokuphefumla
• Iminwe ecoliweyo

Uvavanyo lwegazi lwenziwa ukunceda ukufumanisa i-CF. Uvavanyo lukhangela utshintsho kuhlobo lweCF. Ezinye iimvavanyo ezisetyenziselwa ukufumanisa i-CF zibandakanya:

• Uvavanyo lwe-Immunoreactive trypsinogen (IRT) luvavanyo olusemgangathweni lokuhlola uvavanyo lweentsana lweCF. Inqanaba eliphezulu le-IRT licebisa ukuba kunokwenzeka i-CF kwaye ifuna ukuvavanywa ngakumbi.
• Uvavanyo lwe-sweat chloride luvavanyo oluqhelekileyo lokuqonda isifo kwi-CF. Inqanaba eliphezulu leetyuwa kumbilo womntu luphawu lwesifo.

Olunye uvavanyo oluchonga iingxaki ezinokunxulumana neCF zibandakanya:

• I-x-ray yesifuba okanye i-CT scan
• Uvavanyo lwamafutha e-fecal
• Uvavanyo lomsebenzi wemiphunga
• Umlinganiso wepancreatic function (ilindle pancreatic elastase)
• Uvavanyo lokukhuthaza ngasese
• I-Trypsin kunye ne-chymotrypsin kwisitulo
• I-GI ephezulu kunye namathumbu amancinci amancinci
• Amasiko emiphunga (afunyanwa sisikhohlela, i-bronchoscopy okanye umqala swab)

Ukuchongwa kwangoko kwe-CF kunye nesicwangciso sonyango kunokuphucula ukusinda kunye nomgangatho wobomi. Ukulandela kunye nokubeka iliso kubaluleke kakhulu. Xa kunokwenzeka, ukhathalelo kufuneka lufunyenwe kwiklinikhi ekhethekileyo ye-cystic fibrosis. Xa abantwana befikelela ebudaleni, kuya kufuneka batshintshele kwiziko elithile le-cystic fibrosis kubantu abadala.

Unyango lweengxaki zemiphunga lubandakanya:

• Amayeza okubulala iintsholongwane ukukhusela nokunyanga usulelo lwemiphunga kunye nesono. Banokuthathwa ngomlomo, okanye banikezwe emithanjeni okanye ngonyango lokuphefumla. Abantu abane-CF banokuthatha ii-antibiotics kuphela xa kufuneka, okanye ngalo lonke ixesha. Amanani ahlala ephezulu kunesiqhelo.
• Amayeza afakwe ngaphakathi ukunceda ukuvula iindlela zomoya.
• Amanye amayeza anikezelwa ngonyango lokuphefumla ukuya kwi-mucus encinci kwaye yenze kube lula ukukhohlela yi-DNAse unyango lwe-enzyme kunye nezisombululo zetyuwa ezixineneyo (i-hypertonic saline).
• Ugonyo lwe-flu kunye ne-pneumococcal polysaccharide vaccine (PPV) ngonyaka (cela umboneleli wakho wezempilo).
• Ukufakelwa kwemiphunga kukukhetha kwezinye iimeko.
• Unyango lweoksijini lunokufuneka njengoko isifo semiphunga sisiba mandundu.

Iingxaki zemiphunga ziyanyangwa ngonyango ukuze kuncitshiswe i-mucus. Oku kwenza kube lula ukukhwehlela i-mucus ngaphandle kwemiphunga.

Ezi ndlela zibandakanya:

• Umsebenzi okanye umthambo obangela ukuba uphefumle nzulu
• Izixhobo ezisetyenziswa emini ukunceda ukucoca indlela yomoya ye-mucus eninzi
• Incwadana yesifuba esenziwe ngesifuba (okanye isifuba somzimba), apho ilungu losapho okanye ingcali liqhwaba nje isifuba somntu, umqolo kunye nendawo ephantsi kweengalo

Unyango lweengxaki zamathumbu kunye nezondlo kunokubandakanya:

• Ukutya okukhethekileyo okuneprotheyini kunye neekhalori zabantwana abadala kunye nabantu abadala
• Iipenzyme zepancreatic ukunceda ukufunxa amafutha kunye neeproteni, ezithathwa kunye nesidlo ngasinye
• Izongezo zeVitamin, ngakumbi iivithamini A, D, E, kunye noK
• Umboneleli wakho unokucebisa ngezinye iindlela zonyango ukuba unezitulo ezinzima kakhulu

I-Ivacaftor, i-lumacaftor, i-tezacaftor, kunye ne-elexacaftor ngamayeza anyanga iintlobo ezithile ze-CF.

• Baphucula ukusebenza kolunye lwezakhi zofuzo ezingalunganga ezibangela iCF.
• Ukuya kuthi ga kwi-90% yezigulana ezine-CF kwaye zinelungelo lokufumana elinye okanye nangaphezulu la mayeza uwedwa okanye ngokudibeneyo.
• Ngenxa yoko, kuncinci ukwakhiwa kwencindi eshinyeneyo emiphungeni. Ezinye iimpawu zeCF ziphuculwe ngokunjalo.

Ukhathalelo kunye nokubeka iliso ekhaya kufuneka kubandakanya:

• Ukuphepha umsi, uthuli, ukungcola, umsi, imichiza yasekhaya, umsi womlilo kunye nokubumba okanye ukungunda.
• Ukunika ulwelo oluninzi, ngakumbi kwiintsana kunye nabantwana kwimozulu eshushu, xa kukho urhudo okanye ilindle, okanye ngexesha lomsebenzi owongezelelekileyo.
• Ukuzivocavoca izihlandlo ezi-2 okanye ezi-3 ngeveki. Ukubhukuda, ukubaleka, kunye nokuhamba ngebhayisikile zizinto ezilungileyo onokukhetha kuzo.
• Ukucoca okanye ukukhupha i-mucus okanye i-secretions kwi-airways. Oku kufuneka kwenziwe amaxesha ama-1 ukuya kwezi-4 ngosuku ngalunye. Izigulana, iintsapho, kunye nabanonopheli kufuneka bafunde ngokwenza ukubetha kwesifuba kunye nomsele ongasemva ukunceda ukugcina iindlela zomoya zicacile.
• Akukho kunxibelelana nabanye abantu abane-CF ekucetyiswa ukuba banako ukutshintshisa usulelo (alisebenzi kumalungu osapho).

Ungaluphelisa uxinzelelo lokugula ngokujoyina iqela elixhasayo le-cystic fibrosis. Ukwabelana nabanye abanamava afanayo kunye neengxaki kunokunceda usapho lwakho ukuba lungaziva lulilolo.

Uninzi lwabantwana abane-CF bahlala besempilweni entle de bafikelele ebudaleni. Bayakwazi ukuthatha inxaxheba kwimisebenzi emininzi kwaye baye esikolweni. Uninzi lwabantu abadala abancinci abane-CF bagqiba ikholeji okanye bafumana imisebenzi.

Isifo semiphunga ekugqibeleni siba mandundu ukuya kwindawo apho umntu ekhubazeke khona. Namhlanje, umndilili wexesha lokuphila kwabantu abane-CF abaphila ukuya ebudaleni imalunga neminyaka engama-44.

Ukufa kuhlala kubangelwa ziingxaki zemiphunga.

Eyona ngxaki ixhaphakileyo sisifo esinganyangekiyo sokuphefumla.

Ezinye iingxaki zibandakanya:

• Iingxaki zamathumbu, ezinje ngamatye enyongo, ukuvaleka kwamathumbu emathunjini, kunye nokuqhekeka kwamarhatya
• Ukukhohlela igazi
• Ukungaphumeleli kokuphefumla okungapheliyo
• Seswekile
• Ukungachumi
• Isifo sesibindi okanye ukungaphumeleli kwesibindi, i-pancreatitis, i-biliary cirrhosis
• Ukungondleki
• Iipolyps ngeempumlo kunye sinusitis
• I-osteoporosis kunye ne-arthritis
• I-pneumonia eqhubeka ibuya
• Pneumothorax
• Ukusilela kwentliziyo esekunene (cor pulmonale)
• Umhlaza womzimba

Biza umboneleli wakho ukuba usana okanye umntwana uneempawu ze-CF, kunye namava:

• Umkhuhlane, ukunyuka kokukhohlela, ukutshintsha kwesikhohlela okanye igazi kwisikhohlela, ukuphelelwa ngumdla wokutya, okanye ezinye iimpawu zenyumoniya
• Ukwanda kobunzima bomzimba
• Ukuhamba kwamathumbu rhoqo okanye ilindle elinuka kakubi okanye elinamanci amaninzi
• Isisu esidumbileyo okanye ukudumba okwandileyo

Tsalela umnikezeli wakho ukuba umntu one-CF uvelisa iimpawu ezintsha okanye ukuba iimpawu ziya zisiba mbi, ngakumbi ubunzima bokuphefumla kakhulu okanye ukukhohlela igazi.

ICF ayinakuthintelwa. Ukuvavanya abo banembali yosapho yesi sifo kunokubhaqa i-CF yemfuza kubathwali abaninzi.

ICF

• Isondlo sangaphakathi-iingxaki zokulawula umntwana
• Ityhubhu yokondla isisu - i-bolus
• Indlela yokuphefumla xa unomoya omfutshane
• Ityhubhu yokondla iJejunostomy
• Umsele wamanzi angasemva

• Iklabhu
• Umsele wamanzi angasemva
• Iminwe ecoliweyo
• Icystic fibrosis

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U-Eagan ME, uSchechter MS, uVoynow JA. Icystic fibrosis. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 432.

I-Farrell PM, i-White TB, i-Ren CL, okqhubekayo. Ukuchongwa kwecystic fibrosis: izikhokelo zemvumelwano ezivela kwiCystic Fibrosis Foundation. J Isilwanyana. Ngo-2017; 181S: S4-S15.e1. IINKCUKACHA: 28129811 pubmed.ncbi.nlm.nih.gov/28129811/.

IGraeber SY, iDopfer C, uNaehrlich L, et al. Iziphumo zonyango lwe-lumacaftor / ivacaftor kunyango lomsebenzi we-CFTR kwi-Phe508del abaguli abane-homozygous abane-cystic fibrosis. NdinguJ J wokuKhathalela uKhathalelo ngeMed. 2018; 197 (11): 1433-1442. IINKCUKACHA: 29327948 pubmed.ncbi.nlm.nih.gov/29327948/.

UGrasemann H. ICystic fibrosis. Ku: IGoldman L, iSchafer AI, ii-eds. Amayeza eGoldman-Cecil. Ngomhla wama-26. IPhiladelphia, PA: Elsevier; 2020: isahl. 83.

URowe SM, uHoover W, uSolomon GM, uSorscher EJ. Icystic fibrosis. Ku: Broaddus VC, Mason RJ, Ernst JD, et al, ii-eds. Incwadi kaMurray kunye neNadel yeyeza lokuphefumla. Umhla wesi-6. IPhiladelphia, PA: Elsevier Saunders; 2016: isahluko 47.

UTaylor-Cousar JL, uMunck A, uMcKone EF, et al. I-Tezacaftor-ivacaftor kwizigulana ezine-cystic fibrosis homozygous ye-phe508del. N Engl J Med. I-PMID: 29099344 ipapashwe.ncbi.nlm.nih.gov/29099344/.