Imithi emisha ye-cystic fibrosis

I-cystic fibrosis (i-cystic fibrosis) ingenye yezifo ezivame ukuzalwa ezinganeni. Ngenxa ye-anomaly yezakhi zofuzo, ukuthuthwa kwe-ions ngokusebenzisa i-membrane yeseli kuphazanyiswa, okuholela ekuphazamiseni imisebenzi yezinhlaka eziningi. I-cystic fibrosis iyisifo esiphezulu se-autosomal, okungukuthi, ukuze ivele ibonakale, umuntu kufanele azuze amakhophi amabili wezakhi zofuzo ezingenaphutha, eyodwa kumzali ngamunye. Imithi emisha ye-cystic fibrosis izosiza kule simo.

Ukuxilongwa kwe-cystic fibrosis

Izimpawu nezibonakaliso zalesi sifo ziqondile, kodwa zingahluka kuye ngokuthi ubukhulu benkambo buyini.

Lokhu kufaka:

■ Ukungasebenzi komsebenzi we-pancreatic (obhekene neziguli ezingama-85%);

■ ukungakwazi ukusebenza kwamapayipi kanye ne-bronchiectasis (ukuphulukiswa okungavamile kwe-bronchial), okuthuthukiswa ngenxa yokuqoqwa kwe-adhesive emcus ekuphefumuleni;

■ Ukungasebenzi kwamagciwane okuhambisana nokusebenza komzimba okungasebenziyo okuholela ekulahlekelweni kwesisindo kanye nokulahlekelwa isisindo.

Emndenini ofanayo, ukuqina komonakalo wamaphaphu ezinganeni kungahlukahluka, kodwa ukungasebenzi kwamaphakheji ezimweni eziningi kunesimo esifanayo. Ukutheleleka kwe-Lung kungenye yezimbangela eziyinhloko zokufa kweziguli eziphethwe yi-cystic fibrosis. Ngokuvame lokhu lokhu kungenxa yokutheleleka kwebhaktheriya okungenakuhlinzekwa ukwelashwa. Ukuqoqwa kwe-mucus e-viscous kule-airways kudala izimo ezihle zokuthuthukiswa kwezinsizakalo ezincane. Abantu abahlukunyezwa yi-cystic fibrosis ikakhulukazi bangakwazi ukutheleleka nge-bacterium Pseudomonas aeruginosa. Amaseli amaphaphu aphilile akwazi ukumelana nezinambuzane ezihlaselayo. Kulezi ziguli ezine-cystic fibrosis, lo msebenzi awunzima, okuholela ekutheni kwenzeke ukutheleleka kwezifo ezingamaphilisi ezingapheli.

Ukwelashwa kwe-cystic fibrosis

Ukwenza ngcono izindlela zokwelashwa kwe-cystic fibrosis, kuhlanganise nemithi elwa namagciwane kanye ne-physiotherapy, okuhlosiwe ekuqedeni amaphaphu emfucumfucu, kuye kwandisa ukulinganiselwa kokuphila kweziguli kuze kufike eminyakeni engama-30. Iningi leziguli ezine-cystic fibrosis ayinamandla. Isizathu sokungabikho kwesilisa kungukungabikho kokuzalwa okungakazalwa kwe-vas deferens, amadoksi lapho i-sperm iphuma khona ematendeni ku-urethra. Kwabesifazane, ukungabi nabantwana kuhlotshaniswa nokuba khona kwe-mucus engavamile emgodini wesibeletho. Kodwa-ke, okwamanje iziguli ezinjalo zingabantwana ngokusizwa kokuqedwa kokufakelwa. Phakathi kwabameleli bomncintiswano omhlophe waseYurophu, umuntu oyedwa kwabayisishiyagalombili uphethe isisindo se-cystic fibrosis. Njengoba lesi sakhi sithinta ngokweqile, kufanele sizuzwe njengefa kubazali bobabili ngokubonakaliswa kwezibonakaliso zesifo. Phakathi kwabameleli bomncintiswano omhlophe waseYurophu, umthwali wegciwane elingenalutho le-cystic fibrosis cishe umuntu oyedwa kwabangu-25. Abantu abanjalo kuthiwa i-heterozygous. Abanayo izimpawu zomtholampilo zesifo kanye nengozi yokuthuthukisa i-cystic fibrosis. Kubantu abaningi, amathuba ukuthi bobabili abalingani bobabili bazoba izithwala zesisindo esingenasici kukhona 1: 400 (okungukuthi, okubili kokubili ku-400). Isithinteli ngasinye sinomngcipheko we-50% wokudlulisela igciwane eliguquguqukayo kwengane ngayinye. Uma bobabili abalingani bebambisene bezithwala, ingane ngayinye inesithombe esicacile senengozi yokuzuza ifulethi elingalungile.

■ Ingozi ye-cystic fibrosis ngenxa yefa lamagciwane amabili aswelekile yi-1: 4.

■ Ingozi yokuba ngumthwali wezakhi zofuzo lapho uzuza ifa elilodwa elingafanelekile nelinye elivamile lingu-1: 2.

■ Ilungelo lokuzuza ifulethi ezimbili ezivamile futhi ahlale engathinteki isakhi se-defective-1: 4.

Abantu abazuze ifulegi ezimbili ezingalungile kuthiwa yi-homozygous, futhi labo abazuze ifa elilodwa njenge-heterozygous, noma abathwali. Abathwali banomngcipheko wokuba nezingane ezigulayo uma umlingani wabo ephethe isakhi esingenasici. Abantu abangekho abathwali begejethi abasengozini yokuthuthukisa lesi sifo ezinganeni zabo ezizayo. Umbhangqwana, lapho ngamunye othwala khona, unamathuba okuba ngu-1: 4 ukuthi unezingane ezigulayo. Ubukhulu besifo singashintsha ngokubanzi. Iningi leziguli zitholwa ngaphambi kokuba unyaka owodwa, kodwa uhlobo oluthile lwesifo lungatholakala ku-age ubudala, ngezinye izikhathi ngengozi, uma kuhlolwe ukungasebenzi. Ukuqukethwe koketshezi ketshezi esikhwameni kungasetshenziswa njengenkomba yokuhlonza i-cystic fibrosis. I-"test test" yanamuhla iyindlela elula kakhulu yendlela esetshenziswa ngaphambili ngababelethisi ababebopha ebunzini lomsana ukuze bathole izinga eliphezulu lesikasa usawoti. Ngisho ngaleso sikhathi kwaziwa ukuthi izinga eliphezulu likasawoti liwuphawu lokuntuleka kwamaphalenda. I-cystic fibrosis ingenye yezifo ezivame ukuguqula i-autosomal ezihlukumezayo phakathi kwabameleli bomncintiswano omhlophe we-Europe futhi kwenzeka ngokwesilinganiso ku-1 kwabangu-400 abantwana abazalwa. Akuwona wonke amaqembu ezinhlanga ezinamazinga aphakeme kangaka. Isibonelo, kubameleli bamaSpanishi noma aseLatino, umphumela yi-1 yezingane ezingu-9 500, kanye nabase-Afrika nabase-Asiya, abangaphansi kwe-1 icala ngabantwana abangu-50 000 abazalwa. Iningi lamaciko afundiswayo linamazinga aphansi emiphakathini kunabamele umncintiswano omhlophe waseYurophu. Kodwa-ke, kunzima ukubikezela izinga lokufiphala emphakathini ohlangene. Abangu-25% bezakhamuzi zaseNyakatho Yurophu bangabathwali begciwane elingenalutho le-cystic fibrosis. Isibonelo, e-UK, lesi sifo senzeke kumntwana ongu-1 kusuka ekuzalweni okungu-4 000 (kufaka phakathi izingane zezinye izinhlanga, ngaphandle kobumhlophe).