Neurofibromatosis Uhlobo 1

I-Neurofibromatosis uhlobo 1 (NF1) yisimo sokuzalwa esibangela ukushintsha kombala wesikhumba kanye nezinhlungu ezinwebeka kuma-nerve. Ukushintsha kwesikhumba kuhlanganisa amabala abukhulu, abomvu obumnyama kanye nama-freckles ezingalweni nasemadolweni. Izinhlungu zingakhula noma kuphi ohlelweni lwezinzwa, kuhlanganise ubuchopho, i-spinal cord nama-nerve. I-NF1 iyindlala. Cishe 1 ku-2,500 ithonya yi-NF1. Izinhlungu zivame ukungabi yizifo zomdlavuza, ezibizwa ngokuthi i-benign tumors. Kodwa ngezinye izikhathi zingaba yizifo zomdlavuza. Izimpawu zivame ukuba zithambile. Kepha izinhlungu zingase zenzeke futhi zihlanganise ubunzima ekufundeni, izimo zenhliziyo nezinzwa zegazi, ukulahlekelwa kubukhazikhazi, nobuhlungu. Ukwelashwa kugxile ekusekeleni ukukhula okunempilo nokuthuthukiswa kwabantwana nokuphathwa kwangaphambi kwesikhathi kwezinhlungu. Uma i-NF1 ibangela izinhlungu ezinkulu noma izinhlungu ecindezela inzwa, ukuhlinzwa kunganciphisa izimpawu. Imithi emisha iyatholakala ukwelapha izinhlungu kubantwana, kanye nezinye izindlela zokwelapha ezintsha ziyathuthukiswa.

I-Neurofibromatosis uhlobo 1 (NF1) ivamise ukutholakala ngesikhathi sobuntwana. Izimpawu zibonakala ekuzalweni noma ngokushesha ngemva kwalokho futhi cishe njalo ngaphambi kokuba kube neminyaka eyi-10. Izimpawu zivame ukuba zingezinkulu kakhulu noma eziphakathi nendawo, kodwa zingase zihluke kumuntu nomuntu. Izimpawu zihlanganisa: Amabala abukhali, abomvu obumnyama olukhanyayo olukhanyayo, oluaziwa ngokuthi amabala e-cafe au lait. La mabala angenangozi avame kakhulu kubantu abaningi. Kodwa ukuba namabala e-cafe au lait angaphezu kweyesihlanu kusikisela i-NF1. Zivame ukuba khona ekuzalweni noma zivele eminyakeni yokuqala yokuphila. Ngemva kobutwana, amabala amasha ayeka ukuvela. Ukubola ezingalweni noma endaweni yesisu. Ukubola kuvame ukuvela eminyakeni eyi-3 kuya kweyi-5. Amabala amancane kunamabala e-cafe au lait futhi avame ukuba ngamaqembu ezigubeni zesikhumba. Amaphambili amancane e-iris yamehlo, aziwa ngokuthi ama-Lisch nodules. La ma-nodules awabonakali kalula futhi awathinti umbono. Amaphambili abuthakathaka, asayizi we-pea, phezu noma ngaphansi kwesikhumba okuthiwa ama-neurofibromas. Lezi zinhlayiya ezilungile zivame ukukhula ngaphakathi noma ngaphansi kwesikhumba kodwa zingakwazi futhi ukukhula ngaphakathi komzimba. Ukukhula okuhilela izinzwa eziningi kubizwa ngokuthi i-plexiform neurofibroma. Ama-plexiform neurofibromas, uma ebekwe ebusweni, angabangela ukuphazamiseka. Ama-Neurofibromas angase ande ngenani ngokwanda kweminyaka. Ukushintsha kwama-bone. Ukushintsha ekuthuthukiseni amathambo nokuphansi kokuthi ubunzima be-mineral bone kungabangela amathambo ukuba akhe ngendlela engajwayelekile. Abantu abane-NF1 bangaba nomgogodla ogobile, owaziwa ngokuthi i-scoliosis, noma umlenze ongaphansi ogobile. I-Tumor enerveni ehlanganisa iso ne-brain, ebizwa ngokuthi i-optic pathway glioma. Le tumor ivame ukuvela ngaphambi kweminyaka eyi-3. I-tumor ayiveli kancane ebuntwaneni obukhulu nasebashabalaleni, futhi cishe ayiveli kubantu abadala. Ukuhluleka ekufundeni. Kuvamile kubantwana abane-NF1 ukuba babe nezinkinga zokufunda. Ngokuvamile kukhona ukukhubazeka okukhethekile ekufundeni, njengokuba nezinkinga zokufunda noma izibalo. I-Attention-deficit/hyperactivity disorder (ADHD) nokulibaziseka kokukhuluma nakho kuvamile. Ubukhulu be-head obukhulu kunokulinganiselwe. Abantwana abane-NF1 bavame ukuba nobukhulu be-head obukhulu kunokulinganiselwe ngenxa yokwanda komthamo we-brain. Ubude obukhulu. Abantwana abane-NF1 bavame ukuba ngaphansi kokulinganiselwe ekudebeni. Bheka ochwepheshe bezempilo uma ingane yakho inezimpawu ze-neurofibromatosis uhlobo 1. Izinhlayiya zivame ukungabi yizinsongo futhi zikhula kancane, kodwa izinhlanganisela zingaphathwa. Uma ingane yakho ine-plexiform neurofibroma, kukhona imithi ekhona ukuyikwelapha.

Bona ubungcweti bezempilo uma ingane yakho inezimpawu ze-neurofibromatosis uhlobo 1. Izinhlungu zivame ukungabi yomdlavuza futhi zikhula kancane, kepha izinhlungu zingaphathwa. Uma ingane yakho ine-plexiform neurofibroma, kukhona imithi ekhona yokuyelapha.

I-Neurofibromatosis uhlobo 1 ibangelwa yi-jini eliguqukileyo eliye ladluliselwa nguyise noma umama noma elivela ngesikhathi sokukhulelwa.

I-jini le-NF1 likwisomiso 17. Le jini lenza iprotheni ebizwa ngokuthi i-neurofibromin esiza ukulawula ukukhula kwamaselula. Uma i-jini iguqukile, ibangela ukulahleka kwe-neurofibromin. Lokhu kuvumela amaseli ukuba akhule ngaphandle kokulawulwa.

Ekuguleni okubangelwa yi-autosomal dominant, i-gene eshintshile iyi-gene ebusayo. Ikhona kwenye ye-chromosomes ezingelona ubulili, ezibizwa ngokuthi yi-autosomes. I-gene eyodwa eshintshile iyadingeka ukuze umuntu athinteke yilolu hlobo lokulimala. Umuntu onesimo se-autosomal dominant—kulesi sibonelo, ubaba—unesilinganiso sama-50% sokuthola ingane ethintekile ene-gene eyodwa eshintshile kanye nesilinganiso sama-50% sokuthola ingane engathintekile.

I-risk factor enkulu ye-neurofibromatosis type 1 (NF1) iwumlando womndeni. Ngamaphesenti angama-50 abantu abane-NF1, le gciwane lidluliselwe kubazali. Abantu abane-NF1 futhi izihlobo zabo zingathintekile cishe bane-change entsha ku-gene.

I-NF1 inesakhiwo sokuzuza se-autosomal dominant. Lokhu kusho ukuthi noma iyiphi ingane yomzali othontekile yile gciwane inesilinganiso sama-50% sokuthola i-gene eshintshile.

Izinkinga ze-neurofibromatosis uhlobo 1 (NF1) ziyahlukahluka, ngisho nasemhlabeni omnye. Ngokuvamile, izinkinga zenzeka lapho ama-tumors ethinta inyama yethambo noma ecindezela izitho zangaphakathi. Izinkinga ze-NF1 zihlanganisa: Izimpawu zezinzwa. Ubunzima ekufundeni nasekucabangeni yizimpawu ezivame kakhulu zezinzwa ezihlotshaniswa ne-NF1. Izinkinga ezingavamile zihlanganisa isifo sofuba kanye nokuqongelela okukhulu kwamanzi ebuchosheni. Ukukhathazeka ngokubonakala. Izimpawu ezibonakalayo ze-NF1 zingabandakanya ama-cafe au lait spots amaningi, ama-neurofibromas amaningi endaweni yobuso noma ama-neurofibromas amakhulu. Kwabanye abantu lokhu kungabangela ukukhathazeka nokuhlupheka ngokomzwelo, ngisho noma kungelona isimo esibi ngokwelapha. Izimpawu ze-skeletal. Abanye abantwana banethambo elingakhiwanga njengokujwayelekile. Lokhu kungabangela ukugoba kwamagxolo nokuphuka kwamagxolo okungase kungapholi. I-NF1 ingabangela ukugoba komgogodla, okwaziwa ngokuthi i-scoliosis, okungase kudinge ukubopha noma ukuhlinzwa. I-NF1 ihambisana nokuncipha kobunzima be-bone mineral, okwandisa ingozi yamathambo abuthakathaka, okwaziwa ngokuthi i-osteoporosis. Ukushintsha kokubona. Ngezinye izikhathi i-tumor ebizwa ngokuthi i-optic pathway glioma ithuthukela enerveni yamehlo. Uma lokhu kwenzeka, kungathinta ukubona. Ukwanda kwezimpawu ngezikhathi zokushintsha kwe-hormonal. Ukushintsha kwe-hormonal okuhlotshaniswa nokuqala kwesondo noma ukukhulelwa kungabangela ukwanda kwama-neurofibromas. Abantu abaningi abanayo i-NF1 banokukhulelwa okuhle kodwa cishe bazodinga ukulandelelwa yi-obstetrician ezazi i-NF1. Izimpawu ze-cardiovascular. Abantu abanayo i-NF1 banengozi enkulu yokuphakama kwegazi futhi bangathuthukisa izimo ze-blood vessel. Ubunzima bokuqeda umoya. Ngokungavamile, ama-plexiform neurofibromas angacindezela indlela yomoya. Ukuhlinzwa. Abanye abantu abanayo i-NF1 bathuthukisa ama-tumors ahlinzayo. Lezi ngokuvamile zivela kuma-neurofibromas ngaphansi kwesikhumba noma kuma-plexiform neurofibromas. Abantu abanayo i-NF1 banengozi enkulu yezinye izinhlobo zomdlavuza. Zihlanganisa umdlavuza wamabele, i-leukemia, umdlavuza we-colorectal, ama-tumors ebuchosheni nezinye izinhlobo zomdlavuza we-soft tissue. Ukuhlolwa komdlavuza wamabele kufanele kuqale ngaphambi kwesikhathi, eminyakeni engama-30, kwabesifazane abanayo i-NF1 uma kuqhathaniswa nabantu abavamile. I-tumor ye-adrenal gland enhle, eyaziwa ngokuthi i-pheochromocytoma. Le tumor engelona umdlavuza ikhiqiza ama-hormones aphakamisa igazi lakho. Ukuhlinzwa kuvame ukudingeka ukuyisusa.

Ukuthola i-neurofibromatosis uhlobo 1 (NF1), ochwepheshe bezempilo baqala ngokubuyekeza umlando wakho wezokwelapha lomuntu siqu nowomndeni kanye nokuhlolwa komzimba.

ILikhala lomntanakho lihlolwa ukubona amabala e-cafe au lait, angasiza ekubeni uthola i-NF1.

Uma kukhona ezinye izivivinyo ezidingekayo ukuthola i-NF1, umntanakho angadinga:

• Ukuhlolwa kwamehlo. Ukuhlolwa kwamehlo kungaveza ama-Lisch nodules, ama-cataracts nokulahlekelwa ukubona.
• Izivivinyo zokwakha izithombe. I-X-rays, i-CT scans noma i-MRI zingasiza ekutholeni ukuguquka kwama-bone, iziphumu ebuchosheni noma emgogodleni, kanye neziphumu ezincane kakhulu. I-MRI ingasetshenziswa ukuthola i-optic gliomas.
• Izivivinyo ze-genetic. Ukuhlolwa kwe-genetic kwe-NF1 kungasiza ekuqinisekiseni ukuxilongwa. Izivivinyo ze-genetic zingasetshenziswa nakwisesikhathi sokukhulelwa ngaphambi kokuba ingane izalwe. Buza ilungu leqembu lakho lezokunakekelwa kwezempilo mayelana nokuqondisa kwe-genetic.

Ukuthola i-NF1, kufanele kube khona okungenani izimpawu ezimbili zesimo. Ingane enesimpawu sinye kuphela futhi engenamlando womndeni we-NF1 cishe izolandelelwa ezinye izimpawu. Ukuxilongwa kwe-NF1 kuvame ukwenziwa ngaphambi kweminyaka engu-4.