Kodi mungadziwe bwanji ngati muli ndi kusintha kwa chibadwa zomwe zingayambitse mwana wanu cystic fibrosis (CF)? Chifukwa chiyani sitingadziwe nthawi zonse ngati wina ali ndi kusintha komwe kungayambitse cystic fibrosis? Ndipo n'chifukwa chiyani kuyesa kuli okwera mtengo?
Mwachidule
Ndikofunika kufotokoza ndendende momwe kuyesa kwa majeremusi kwa cystic fibrosis kumatanthauza kumvetsa mafunso awa. Tili ndi mayesero omwe angathenso kudziwa za cystic fibrosis kwa ana, ngakhale atabadwa , asanakhale ndi zizindikiro.
Kuyesera kwa dziko lothandizira, komabe, ndilosiyana.
Kuyesedwa kwa majeremusi kwa kusintha kwa cystic fibrosis kumaphatikizapo kuyesa munthu amene alibe, ndipo sangaphunzire, kusintha kwa jini komwe angapereke kwa ana, zomwe zikhoza kuwatsogolera ku cystic fibrosis.
Akuti ku United States, anthu opitirira 30,000 ali ndi cystic fibrosis ndipo anthu opitirira 10 miliyoni amanyamula khalidwe la cystic fibrosis . Wothandizira alibe matenda kapena zizindikiro zina koma amatha kupatsira mwanayo CF.
Genetics 101
Zachibadwa ndizomwe timayambitsa zamoyo ndipo timayendetsa zinthu zonse kuchokera ku mtundu wa maso kupita ku mapangidwe a michere yomwe imagwira chakudya m'magazi athu. DNA yathu ili ndi ma chromosomes 46, 23 omwe amabwera kuchokera kwa amayi athu ndi 23 kuchokera kwa makolo athu.
Geni ndi gawo losiyana la chromosome. Zamoyo zathu zimaphatikizapo mitundu yina ya amino acid, yomwe ili ngati "makalata" omwe, podziphatikiza, amatulutsa "mawu." Kusinthika kumatanthawuza kuwonongeka kulikonse kwa jini komwe makalata awa ali osiyana.
Pakhoza kukhala makalata omwe akusowa, makalata omwe akuwonjezeredwa, kapena akhoza kukonzedwanso m'njira zosiyanasiyana.
Mwachidule, mungaganize za kusinthika monga mawu mu kalata. Ngati kalata ikusowa kapena yikonzedwanso, mawu osiyana amalembedwa. M'thupi, DNA yathu "imamasuliridwa" popanga mapuloteni.
Pamene zotsatira zamasinthidwe pakupanga puloteni yosadziwika, matenda monga cystic fibrosis angapangitse.
Genetics & Cystic Fibrosis
Kuyeza kwa majeremusi kwa cystic fibrosis kumachitika pofuna kudziwa ngati munthu ali ndi, kapena ndi chonyamulira cha, cystic fibrosis. Chiyesochi chimagwiritsidwa ntchito pazitsanzo zamagazi, koma nthawi zina zimatha kupangidwa pa maselo ena okhala ndi DNA monga swab kuchokera mkati mwa tsaya. Chitsanzocho chimafufuzidwa chifukwa cha kusintha kwasinthika kwa jeremusi ya cystic fibrosis transmembrane regulator (CFTR) .
Aliyense ali ndi makope awiri a CFTR gene m'maselo awo onse. Ngati buku limodzi , lodziwikanso ngati allele likupezeka kuti liri ndi kusintha, munthuyo ndi chonyamulira. Ngati maginito onse awiriwa atasinthidwa, munthuyo amakhala ndi matenda a cystic fibrosis.
Kuti mwana apange cystic fibrosis, amafunika kulandira majini awiri omwe amasinthidwa, mmodzi kuchokera kwa amayi awo ndi mmodzi kuchokera kwa atate wawo. Ngati amayi kapena abambo ali ndi jini losinthika, mwanayo akhoza kukhala chonyamulira cha khalidwe la CF, koma sangakhale ndi cystic fibrosis.
Kusinthika kwa majini mu jini sikumangokhala mtundu umodzi wokha. M'malo mwake, pali njira zambiri zomwe majini angakhale osowa. Pali kusintha kwasintha kwa CFTR zopitirira 1,500 zomwe zimadziwika kuti zimayambitsa CF, ndipo kusintha kwasintha kwatsopano kukupezeka ngati kafukufuku pa jini akupitirira.
Palibe mayeso omwe amayesa kusintha kwasintha kwa CF, koma mayesero angapo amapezeka kuti ayang'ane kusintha kwakukulu kwa CFTR. Mtengo wa kuyesa kwa majini kuchokera ku madola mazana angapo mpaka madola zikwi zingapo, ndipo akhoza kapena sungapangidwe ndi inshuwalansi.
Mayeso a Zachibadwa a Cystic Fibrosis
Zomwe zimayambitsa ma genetic cystic fibrosis nthawi zina zimatchedwa ACMG / ACOG Mutation Panel kapena gulu lamasinthidwe 23, amayang'ana kusintha kwakukulu komwe kumachitika CFTR. Mayesowa ndi pafupifupi 90 peresenti ogwira ntchito pozindikira kusintha kwa CF ku chiwerengero cha anthu a ku Caucasian, koma pafupifupi 70 peresenti ikugwira bwino ntchito ku African America ndipo 60 peresenti ikugwira bwino ntchito ya anthu a ku Spain.
Mayesowa amapezeka kwambiri m'mabwalo apakati ndi a m'madera, koma kusintha komweku kuyesedwa kudzasiyana malinga ndi malamulo a labu. Mabungwe ena amafufuza zokhudzana ndi kusintha kwakukulu, koma mayesero oyambirira ayenera kuphatikizapo kusintha kwamasamba 23 kotchulidwa ndi American College of Medical Genetics (ACMG) ndi American College of Obstetricians ndi Gynecologists (ACOG). Zotsatira zimakhalapo masiku angapo koma zingatengere nthawi yayitali ngati specimen iyenera kutumizidwa ku labu lalikulu la kuyesedwa.
Makampani ena apanga mayesero omwe angathenso kuzindikira kusintha kwakukulu kosasinthasintha kuphatikizapo omwe ali mu gulu la ACMG / ACOG lovomerezeka. Mayeserowa angakhale othandiza kwambiri pozindikira kusintha kosasinthika kwa cystic fibrosis pokhapokha atayesedwa ngati zotsatira zotsatila ngati mndandanda wazomwe umapanga zotsatira zowoneka bwino.
Anthu ena amavomereza kuti ayesedwe mozama kwambiri pa mayesero awo oyambirira, makamaka ngati ali ndi chiwerengero chochepa cha kusintha kwa CFTR. Mayesero apamwamba ali apadera kwambiri ndipo ayenera kutumizidwa ku mabala omwe amapereka iwo. Mayeserowa angadye zambiri ndipo amatenga nthawi yaitali kuti alandire zotsatira kusiyana ndi gulu loyesera loyesedwa ku labu lapafupi.
Ngati mukuganiza za kuyezetsa chithandizo cha cystic fibrosis, ndizofunika kwambiri kuti mulankhule ndi uphungu wambiri. Kawirikawiri, kuyesedwa kwapezeka kuti kumakhudza kwambiri njira zambiri, kuyambira kuvomereza makolo kuti azikalipiritsa ndi kuyesedwa kwa amayi oyembekezera kuti mwana wawo athe kuchiritsidwa kuyambira pa kubadwa kuti atsimikizire iwo omwe akupeza kuti sali onyalanyaza khalidwelo.
Kwa omwe alibe mimba nthawi ya kuyesedwa, komabe akupeza kuti ndizo zonyamulira, pali zowonongeka zokhudzana ndi mtima komanso zosankha zaumwini zomwe zidzafunikila kulingalira mosamala ndi chithandizo chambiri.
Zotsatira:
Brennan, M., ndi I. Schrijver. Cystic Fibrosis: Kubwereza kwa Mafilimu Ogwirizana, Kugwiritsira Ntchito Njira Zowonongeka Kwambiri, Zochitika Zachibadwa, Mapambidwe, ndi Zojambula. The Journal of Molecular Diagnostics . 2016. 18 (1): 3-14.
Dugueperoux, I., L'Hostis, C., Audrezet, M et al. Kuwunikira Zotsatira za Kuyezetsa Kachipatala ku Cystic Fibrosis Families. Journal of Cystic Fibrosis . 2016. 15 (4): 452-9.
Straniero, L., Solda, G., Costantino, L. et al. Kuchuluka kwa Gene CFTR Kuphatikiza Pamodzi ndi Digital RT-PCR Kumapangitsa Kuzindikira kwa Genetic kwa Matenda a Cystic Fibrosis. Journal of Human Genetics . 2016. 61 (12): 977-984.