I-Neurofibromatosis-1

I-Neurofibromatosis-1 (NF1) yisifo esizuzwe njengefa lapho izicubu zezinzwa zezinzwa (i-neurofibromas) zakha ku:

• Izendlalelo ezingaphezulu nezingezansi zesikhumba
• Izinzwa ezivela ebuchosheni (izinzwa ze-cranial) nentambo yomgogodla (izimpande zomgogodla)

I-NF1 yisifo esizuzwe njengefa. Uma noma yimuphi umzali ene-NF1, ingane ngayinye inethuba elingama-50% lokuba nalesi sifo.

INF1 nayo iyavela emindenini engenawo umlando walesi simo. Kulezi zimo, kubangelwa ushintsho olusha lwesakhi (ukuguquka) kwesidoda noma iqanda. I-NF1 idalwa yizinkinga zofuzo lweprotheyini ebizwa nge-neurofibromin.

I-NF ibangela ukuthi izicubu ezisezinzwa zikhule ngokungalawuleki. Lokhu kukhula kungabeka ingcindezi emithanjeni ethintekile.

Uma iziqu zisesikhunjeni, kungaba nezinkinga zezimonyo. Uma iziqu zikwezinye izinzwa noma izingxenye zomzimba, zingadala ubuhlungu, ukulimala okukhulu kwezinzwa, kanye nokulahleka komsebenzi endaweni lapho kuthinteka khona le nerve. Izinkinga zokuzwa noma ukunyakaza zingenzeka, kuya ngokuthi yiziphi izinzwa ezithintekayo.

Isimo singahluka kakhulu kumuntu nomuntu, ngisho naphakathi kwabantu bomndeni ofanayo abanoshintsho olufanayo lwe-NF1.

Amabala "wekhofi-nobisi" (i-café au lait) yizimpawu ezivelele ze-NF. Abantu abaningi abanempilo banendawo eyodwa noma ezimbili ezincane zokudlela ezinhle. Kodwa-ke, abantu abadala abanamabala ayisithupha noma ngaphezulu amakhulu kuno-1.5 cm ububanzi (0.5 cm ezinganeni) bangaba ne-NF. Kwabanye abantu abanalesi sifo, lezi zindawo zingase zibe uphawu kuphela.

Ezinye izimpawu zingafaka:

• Izimila zeso, njenge-optic glioma
• Ukuquleka
• Ama-freckles esikhwameni noma emgodini
• Izicubu ezinkulu, ezithambile ezibizwa nge-plexiform neurofibromas, ezingaba nombala omnyama futhi zingasakazeka ngaphansi kwesikhumba
• Ubuhlungu (obuvela ezinzwa ezithintekile)
• Izicubu ezincane ezinjoloba zesikhumba ezibizwa nge-nodular neurofibromas

Umhlinzeki wezokunakekelwa kwempilo owelapha iNF1 uzohlola lesi simo. Umhlinzeki kungaba:

• Udokotela wesikhumba
• Udokotela wezingane okhulayo
• Isazi sezakhi zofuzo
• Isazi sezinzwa

Ukuxilongwa kungenzeka ukuthi kwenziwe ngokuya ngezimpawu ezihlukile nezimpawu ze-NF.

Izimpawu zifaka:

• Amabala, amabala aphakanyisiwe (ama-Lisch nodules) engxenyeni enemibala (iris) yeso
• Ukugoba umlenze ongezansi ebuntwaneni okungaholela ekuqhekekeni
• Ukuphindaphindeka emakhwapheni, emgodini, noma ngaphansi kwebele kubantu besifazane
• Izicubu ezinkulu ngaphansi kwesikhumba (i-plexiform neurofibromas), ezingathinta ukubukeka futhi zifake ingcindezi emithanjeni noma ezithweni eziseduze
• Izicubu eziningi ezithambile esikhunjeni noma ezijulile emzimbeni
• Ukukhubazeka okuncane kwengqondo, ukunakekelwa kokushoda (ADHD), ukuphazamiseka kokufunda

Ukuhlolwa kungafaka:

• Ukuhlolwa kwamehlo ngudokotela wamehlo ojwayelene neNF1
• Ukuhlolwa kofuzo ukuthola ushintsho (ukuguquka) kuhlobo lwe-neurofibromin
• I-MRI yobuchopho noma amanye amasayithi athintekile
• Ezinye izivivinyo zezinkinga

Akukho ukwelashwa okuqondile kwe-NF. Izicubu ezibangela ubuhlungu noma ukulahleka komsebenzi zingasuswa. Izicubu ezikhule ngokushesha kufanele zisuswe ngokushesha ngoba zingaba nomdlavuza (zibe yingozi). Isidakamizwa selumetinib (Koselugo) sisanda kuvunywa ukuthi sisetshenziswe ezinganeni ezinamathumba abucayi.

Ezinye izingane ezinenkinga yokufunda zingadinga imfundo ekhethekile.

Ukuthola eminye imininingwane nezinsizakusebenza, xhumana neChildren's Tumor Foundation ku-www.ctf.org.

Uma kungekho zinkinga, isikhathi sokuphila sabantu abane-NF cishe sijwayelekile. Ngemfundo efanele, abantu abane-NF bangaphila impilo ejwayelekile.

Yize ukukhubazeka kwengqondo kuvame ukuba mnene, i-NF1 iyimbangela eyaziwayo yokushoda kokunakwa kokuphazamiseka kwengqondo. Ukukhubazeka ekufundeni kuyinkinga evamile.

Abanye abantu baphathwa ngendlela ehlukile ngoba banamakhulu ezimila esikhunjeni sabo.

Abantu abane-NF banethuba elikhulayo lokuthuthukisa izicubu ezinzima. Ezimweni ezingavamile, lokhu kunganciphisa isikhathi sokuphila komuntu.

Izinkinga zingafaka:

• Ukunakwa kokushoda kokungasebenzi kahle (ADHD)
• Ubumpumputhe obubangelwa yisimila ku-optic nerve (optic glioma)
• Phuka emlenzeni amathambo angapholi kahle
• Izicubu zomdlavuza
• Ukulahleka kokusebenza emithanjeni i-neurofibroma efake ingcindezi esikhathini eside
• Umfutho wegazi ophakeme ngenxa ye-pheochromocytoma noma i-renal artery stenosis
• Ukukhula kabusha kwezicubu ze-NF
• I-Scoliosis, noma ukugobeka komgogodla
• Izimila zobuso, isikhumba, nezinye izindawo eziveziwe

Shayela umhlinzeki wakho uma:

• Uyaqaphela izindawo ezinemibala yekhofi nobisi esikhunjeni sengane yakho noma ezinye izimpawu zalesi simo.
• Unomlando womndeni weNF futhi uhlela ukuba nezingane, noma ungathanda ukuthi ingane yakho ihlolwe.

Ukwelulekwa ngofuzo kunconyelwa noma ngubani onomlando womndeni weNF.

Ukuhlolwa konyaka kufanele kwenzelwe:

• Amehlo
• Isikhumba
• Emuva
• Uhlelo lwezinzwa
• Ukuqapha ukucindezelwa kwegazi

NF1; IVon Recklinghausen neurofibromatosis

• I-Neurofibroma
• I-Neurofibromatosis - indawo enkulu ye-cafe-au-lait

UFriedman JM. I-Neurofibromatosis 1. IGeneReviews®. [Inthanethi]. Seattle (WA): Inyuvesi yase Washington, Seattle; 1993-2020. 1998 Okthoba 2 [Kubuyekezwe 2019 Juni 6]. www.ncbi.nlm.nih.gov/books/NBK1109/.

IPhalamende lamaSulumane, uRoach ES. Ama-syndromes we-Neurocutaneous. Ku: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, ama-eds. I-Neurology kaBradley ekwenziweni kwemitholampilo. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2016: isahluko 100.

USahin M, Ullrich N, Srivastava S, Pinto A. Ama-syndromes we-Neurocutaneous. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 614.

I-Tsao H, Luo S. Neurofibromatosis kanye ne-tuberous sclerosis complex. Ku: Bolognia JL, Schaffer JV, Cerroni L, ama-eds. Isikhumba. Umhla wesi-4. IPhiladelphia, PA: Elsevier; 2018: isahluko 61.