Cystic fibrosis (cystic fibrosis)
La cystic fibrosis, yana nan cututtukan kwayoyin halitta mafi yawan lokuta. Babban bayyanar cututtuka sun shafi hanyoyin numfashi da tsarin narkewa amma kusan dukkanin gabobin zasu iya shafar. Alamun kan bayyana da wuri tun suna jariri kuma suna bambanta da tsanani daga mutum zuwa mutum. Wannan cuta tana haifar da a thickening gamsai da aka ɓoye ta mucosa na sinuses, bronchi, hanji, pancreas, hanta da tsarin haihuwa (duba zane).
The huhu galibi su ne abin ya fi shafa. The lokacin farin ciki, dankowar sirri toshe bronchi, yana sa wahalar numfashi. Bugu da ƙari, ƙwayar ƙwayar cuta da ke taruwa a cikin huhu yana taimakawa wajen haɓakar ƙwayoyin cuta. Don haka mutanen da ke da cystic fibrosis sun fi fuskantar haɗarin fama da cututtuka masu yawa da kuma yiwuwar kamuwa da cututtukan numfashi.
La cystic fibrosis shima yana tabawa tsarin narkewa. Ciwon ciki yana kokarin toshe bakin huhu na pancreas, yana hana enzymes na narkewa da pancreas ke samarwa shiga cikin hanji da gudanar da ayyukansu. Kamar yadda abinci kawai ake narkar da wani sashi, musamman ma mai da wasu bitamin, rashi mai mahimmanci yana faruwa. Za su iya haifar da wani jinkirin girma.
Haka kuma cutar tana da babban illa ga hanta da gabobin haihuwa, wanda yakan haifar da rashin haihuwa ga mata da rasa haihuwa a cikin mazajen da abin ya shafa.
Godiya ga a baya ganewar asali kuma mafi kulawa,rai rai kuma ingancin rayuwar wadanda abin ya shafa ya ci gaba da inganta a cikin shekarun da suka gabata, musamman tun lokacin da sabbin hanyoyin kwantar da hankali, da aka yi niyya ga cututtukan ƙwayoyin cuta, sun fara fitowa kuma za su canza tsarin kula da marasa lafiya a cikin matsakaicin lokaci. .
Tsarin jima'i
La cystic fibrosis ne cututtukan kwayoyin halitta Mafi na kowa a Faransa tare da kusan mutane 6000 da abin ya shafa1.. Daya cikin 4 jarirai na fama da wannan cuta. Yana da wuya a tsakanin baƙar fata (000 a cikin 1) da Gabas (13 a cikin 000). Yana shafar maza da mata. Al'ummar yammacin Faransa ne lamarin ya fi shafa.
La cystic fibrosis ne cututtukan kwayoyin halitta mafi yawan muguwar cuta a Kanada. Ɗaya daga cikin jarirai 3 yana shafar1. Cystic fibrosis ya ɗan fi kowa a ciki Quebec fiye da sauran Kanada: 3 Canadians sun shafi, ciki har da Quebecers 500.
Sanadin
La cystic fibrosis An fara bayyana shi a cikin 1936 ta Dr Guido Fanconi, likitan yara na Switzerland. Halin da ke da alhakin, mai suna CFTR (na "Cystic Fibrosis Transmembrane conductance Regulator"), ba a gano shi ba sai 1989 ta masu binciken Kanada. A cikin marasa lafiya, wannan gene is mahaukaci (muna cewa an canja masa wuri). Yana da alhakin haɗin tashar chlorine wanda ke ba da damar daidaita yanayin hydration na gamsai. A cikin yanayin rashin daidaituwa a cikin kwayar halittar CFTR, da gamsai samfurin yayi kauri sosai kuma baya magudana akai akai. Fiye da maye gurbi daban-daban guda 1 a cikin kwayar halittar CFTR da ke cikin cystic fibrosis an gano su2, 3,4. An raba su zuwa aji 6 bisa ga nau'in rashin aiki daban-daban2Daga cikin waɗannan maye gurbi da yawa, maye gurbin Delta F508, wanda aka samu a cikin kashi 81% na mutanen da abin ya shafa a Faransa, shine ya fi yawa.
Cystic fibrosis ba cuta ce mai yaduwa ba. Mutanen da suka mallaka pathogenic maye gurbi na kwayoyin halittar CFTR suna haɓaka cutar ba dade ko ba dade ba amma zuwa nau'ikan nau'ikan nauyi.
bincike
Yawancin lokaci, cystic fibrosis ana gano shi tun farkon shekarar rayuwa saboda alamun numfashi bayyana da wuri sosai. A cikin kashi 90% na lokuta, ana gano cutar kafin shekaru 10.
Don tabbatar da ganewar asali, likita ya yi a gwajin gumi (ko gwajin gumi). Tabbas, gumin mutanen da ke da cystic fibrosis ya fi yawa mai da hankali a cikin gishiri (2 zuwa 5 sau fiye da na al'ada). The kwayoyin gwajin ba da damar gano ainihin abubuwan da ba su da kyau a cikin kwayar halittar CFTR. Suna da mahimmanci don la'akari da hanyoyin kwantar da hankali.
A Faransa, an duba tsarin cystic fibrosis a cikin duk jarirai tun 20025. An nuna cewa gwajin farko na inganta rayuwa da tsawon rayuwar yaran da abin ya shafa.An gwada jarirai a cikin kwanaki 3 na rayuwa bayan izinin iyaye, kafin a sallame su. haihuwa. Jarabawar ba ta ba da takamaiman ganewar asali ba amma wanda za a tabbatar da shi ko kuma ya lalace ta takamaiman ƙarin gwaje-gwaje (gwajin gumi, nazarin kwayoyin halitta).
A Quebec, babu dubawa na tsari na wannan cuta. Duk da haka, gidauniyar Cystic Fibrosis ta Kanada, wadda likitoci da yawa ke goyan bayan, ta yi kira da a aiwatar da gwajin gwajin jarirai na shekaru da yawa. An nuna gano wuri da wuri don inganta yanayin rayuwa da tsawon rayuwar yaran da abin ya shafa.
Rayuwar rai
A cikin 1960s, darai rai na yara da cystic fibrosis bai wuce shekaru 5 ba. A zamanin yau, bisa ga sabuwar ƙididdiga, matsakaicin shekarun rayuwa shine shekaru 471. cututtuka na numfashi ya kasance mafi yawan sanadin mutuwa.
Rikici akai-akai
Cystic fibrosis cuta ce da sannu a hankali ke lalata huhu, pancreas, da hanta. da kula da lafiya Duk da haka, yana taimakawa wajen rage tsanani da yawan rikitarwa.
The matsalolin numfashi sune mafi yawan lokuta, ciki har da dilation na bronchi, haifar da mashako, ciwon huhu tare da maimaitawa. Akwai lokuta na alamun bayyanar cututtuka na numfashi, lokacin da marasa lafiya suna "cushe", sun fi numfashi, rasa nauyi, sau da yawa saboda kamuwa da cuta. Lalacewar numfashi na iya zama barazana ga rayuwa.
Game da tsarin narkewa, toshewar bile ducts wanda ke ba da izinin bile ya kwarara zuwa cikin sashin narkewar abinci na iya haifar da cirrhosis na hanta. Toshewa da ci gaba sclerosis na pancreas, na iya haifar da malabsorption na gina jiki da kuma ci gaban ciwon sukari. Wadannan cututtuka sukan haifar da su karancin abinci mai gina jiki gudawa mai tsanani da na kullum. Gabaɗaya, ana iya gyara rashi ta hanyar abinci na musamman. Akasin haka, babban maƙarƙashiya, ko ma toshewar hanji, na iya faruwa.
Yawancin lokaci, balaga na faruwa daga baya a cikin yara maza da mata masu ciwon cystic fibrosis. A ƙarshe, da haihuwa ne raguwa, musamman a cikin maza waɗanda kusan duka (95%) ba su da haihuwa saboda toshewar vas deferens. Wadannan ducts suna ɗaukar maniyyi daga tes zuwa vesicles na seminal. A cikin mata, ƙara dankowar ƙwayar farji yana rage motsin maniyyi. Haka kuma cutar na iya shafar daidaito da yawan kwai. Haihuwa yana raguwa, amma ciki har yanzu yana yiwuwa.