Neurofibromatosis-1

Neurofibromatosis-1 (NF1) ke lefu le futsitsoeng leo ho lona lihlahala tsa methapo ea kutlo li thehoang ho:

• Likarolo tse kaholimo le tse tlase tsa letlalo
• Metsing e tsoang bokong (methapo ea pelo) le lesapo la mokokotlo (methapo ea methapo ea mokokotlo)

NF1 ke lefu le futsitsoeng. Haeba motsoali e mong a e-na le NF1, ngoana e mong le e mong oa bona o na le monyetla oa 50% oa ho ba le lefu lena.

NF1 e boetse e hlaha malapeng a se nang nalane ea boemo bona. Maemong ana, e bakoa ke phetoho e ncha ea liphatsa tsa lefutso (phetoho) ka har'a peo kapa lehe. NF1 e bakoa ke mathata a liphatsa tsa lefutso bakeng sa protheine e bitsoang neurofibromin.

NF e etsa hore lisele tse methapong li hōle ka mokhoa o sa laoleheng. Khōlo ena e ka beha khatello ho methapo e amehileng.

Haeba kholo e ka letlalong, ho ka ba le mathata a litlolo. Haeba makhopho a le methapong e meng kapa likarolong tsa 'mele, a ka baka bohloko, tšenyo e mpe ea methapo le tahlehelo ea tšebetso sebakeng seo methapo e amehang. Mathata a maikutlo kapa a motsamao a ka hlaha, ho latela hore na methapo e amehang ke efe.

Boemo bo ka fapana haholo ho ea ka motho, esita le har'a batho ba lelapa le le leng ba nang le phetoho e tšoanang ea liphatsa tsa lefutso tsa NF1.

Mabala a "kofi-ka-lebese" (café au lait) ke letšoao le khethollang NF. Batho ba bangata ba phetseng hantle ba na le cafe e le 'ngoe kapa tse peli tse nyane. Leha ho le joalo, batho ba baholo ba nang le matheba a tšeletseng kapa ho feta a maholo ho feta 1.5 cm bophara (0.5 cm ho bana) ba ka ba le NF. Ho batho ba bang ba nang le boemo bona, mabala ana e kanna ea ba sesupo feela.

Matšoao a mang a kenyeletsa:

• Lihlahala tsa leihlo, joalo ka optic glioma
• Ho oa
• Maqhubu a ka tlas'a sephaka kapa koli
• Lihlahala tse kholo, tse bonolo tse bitsoang plexiform neurofibromas, tse ka bang le 'mala o lefifi' me tsa namela ka tlas'a letlalo
• Bohloko (bo tsoang methapong e amehileng)
• Lihlahala tse nyane tse nang le rabara tsa letlalo tse bitsoang nodular neurofibromas

Mofani oa tlhokomelo ea bophelo ea sebetsanang le NF1 o tla hlahloba boemo bona. Mofani e ka ba:

• Ngaka ea meno
• Ngaka ea bana ea nts'etsopele
• Setsebi sa lefutso
• Ngaka ea methapo

Tlhahlobo e kanna ea etsoa ho latela matšoao a ikhethang a NF.

Lipontšo li kenyelletsa:

• Mebala, mabala a phahamisitsoeng (Lisch nodule) karolong e 'mala (iris) ea leihlo
• Ho khumama ha leoto le ka tlase bongoaneng ho ka lebisang ho robeheng
• Ho phethesela matsohong, bobeng, kapa ka tlasa letsoele ho basali
• Lihlahala tse kholo tlasa letlalo (plexiform neurofibromas), tse ka amang ponahalo le ho hatella methapo kapa litho tse haufi.
• Lihlahala tse ngata tse bonolo letlalong kapa tse tebileng 'meleng
• Bofokoli bo bobebe ba kutloisiso, bothata ba ho se tsotelle (ADHD), mathata a ho ithuta

Liteko li ka kenyelletsa:

• Ho hlahlojoa mahlo ke ngaka ea mahlo e tsebang NF1
• Liteko tsa lefutso ho fumana phetoho (gene) lefung la neurofibromin
• MRI ea boko kapa libaka tse ling tse amehileng
• Liteko tse ling tsa mathata

Ha ho na kalafo e khethehileng bakeng sa NF. Lihlahala tse bakang bohloko kapa tahlehelo ea ts'ebetso li ka tlosoa. Lihlahala tse holileng kapele li lokela ho tlosoa kapele hobane li ka fetoha mofets'e (tse kotsi). Selumetinib ea lithethefatsi (Koselugo) e sa tsoa amoheloa hore e ka sebelisoa ho bana ba nang le lihlahala tse matla.

Bana ba bang ba nang le mathata a ho ithuta ba ka hloka thuto e khethehileng.

Bakeng sa tlhaiso-leseling e batsi le lisebelisoa, ikopanye le Children's Tumor Foundation ho www.ctf.org.

Haeba ho se na mathata, tebello ea bophelo ea batho ba nang le NF e batla e le ntho e tloaelehileng. Ka thuto e nepahetseng, batho ba nang le NF ba ka phela bophelo bo tloaelehileng.

Leha ho holofala kelellong hangata ho le bobebe, NF1 ke sesosa se tsebahalang sa khaello ea khatello ea maikutlo. Bothata ba ho ithuta ke bothata bo tloaelehileng.

Batho ba bang ba alafshoa ka tsela e fapaneng hobane ba na le lihlahala tse makholo letlalong la bona.

Batho ba nang le NF ba na le menyetla e eketsehileng ea ho ba le lihlahala tse matla. Maemong a sa tloaelehang, tsena li ka khutsufatsa bophelo ba motho.

Mathata a ka kenyelletsa:

• Tlhokomelo ea khaello ea khatello ea kelello (ADHD)
• Bofofu bo bakoang ke hlahala mothapong oa optic (optic glioma)
• Roba masapo a leoto a sa foleng hantle
• Lihlahala tsa mofets'e
• Ho lahleheloa ke ts'ebetso methapong eo neurofibroma e entseng khatello ho eona nako e telele
• Khatello ea mali e phahameng ka lebaka la pheochromocytoma kapa renal artery stenosis
• Phetoho ea lihlahala tsa NF
• Scoliosis, kapa ho kobeha ha mokokotlo
• Lihlahala tsa sefahleho, letlalo le libaka tse ling tse pepesitsoeng

Bitsa mofani oa hau haeba:

• U hlokomela mabala a kofi le lebese letlalong la ngoana oa hau kapa matšoao afe kapa afe a boemo bona.
• U na le nalane ea lelapa ea NF mme u rera ho ba le bana, kapa u ka rata hore ngoana oa hau a hlahlojoe.

Ho khothaletsoa tlhabollo ea lefutso ho mang kapa mang ea nang le nalane ea lelapa ea NF.

Ho hlahlojoa selemo le selemo ho lokela ho etsoa bakeng sa:

• Mahlo
• Letlalo
• Morao
• Tsamaiso ea methapo
• Tlhokomelo ea khatello ea mali

NF1; Von Recklinghausen neurofibromatosis

• Neurofibroma
• Neurofibromatosis - sebaka se seholo sa cafe-au-lait

Friedman JM. Neurofibromatosis 1. GeneReviews®. [Inthanete]. Seattle (WA): Univesithi ea Washington, Seattle; 1993-2020. 1998 Mphalane 2 [E nchafalitsoe 2019 Jun 6]. www.ncbi.nlm.nih.gov/books/NBK1109/.

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Sahin M, Ullrich N, Srivastava S, Pinto A. Li-syndromes tsa methapo ea kutlo. Ka: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, bahlophisi. Buka ea Nelson ea Pediatrics. La 21 Ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 614.

Tsao H, Luo S. Neurofibromatosis le lefuba la sclerosis. Ka: Bolognia JL, Schaffer JV, Cerroni L, bahlophisi. Dermatology. La 4 ed. Philadelphia, PA: Elsevier; 2018: khaolo ea 61.