Neurofibromatoses ke mafu a liphatsa tsa lefutso a lebisang ho nts'etsopele ea lihlahala tsa tsamaiso ea methapo. Ho na le mefuta e 'meli e meholo: mofuta oa neurofibromatosis 1 le mofuta oa neurofibromatosis 2. Lefu lena le ke ke la phekoloa. Ke mathata feela a phekoloang.

Tlhaloso

Neurofibromatosis ke e 'ngoe ea mafu a atileng haholo a lefutso. Autosomal e futsitsoe haholo, e lebisa ho nts'etsopele ea lihlahala tsa tsamaiso ea methapo. 

Ho na le mefuta e 'meli e meholo: neurofibromatosis type 1 (NF1) eo hape e bitsoang lefu la Von Recklinghausen le mofuta oa 2 neurofibromatosis e bitsoang neurofibromatosis e nang le bilateral acoustic neuroma. Bohloko ba mafu ana a mabeli bo fapana haholo. Ana ke mafu a tsoelang pele. 

Lisosa 

Mofuta oa 1 oa neurofibromatosis ke lefu la liphatsa tsa lefutso. Lefutso le ikarabellang, NF1, le fumanehang ho chromosome 17, le fetola tlhahiso ea neurofibromin. Ha protheine ena e le sieo, ho hlaha lihlahala, hangata tse kotsi. 

Maemong a 50%, lefutso le tsoa ho motsoali ea anngoeng ke lefu lena. Halofo e 'ngoe ea linyeoe, mofuta oa 1 neurofibromatosis o bakoa ke phetoho ea liphatsa tsa lefutso e itlelang feela. 

Mofuta oa 2 oa neurofibromatosis ke lefu la liphatsa tsa lefutso. Ke ka lebaka la phetoho ea mofuta oa mohatelli oa tumor o tsamaisoang ke chromosome 22.

Diagnostic 

Ho hlahlojoa ha neurofibromatosis ke kliniki.

Tlhahlobo ea mofuta oa 1 neurofibromatosis e etsoa ha matšoao a 2 ho a latelang a le teng: bonyane libaka tse tšeletseng tsa café-au-lait tse fetang 5 mm ka bophara ba tsona ho batho ba pele ho boroetsana, le tse fetang 15 mm ho batho ba pubescent. , bonyane li-neurofibromas tse peli (lihlahala tse kotsi tse se nang mofetše) tsa mofuta ofe kapa ofe kapa plexiform neurofibroma, axillary kapa inguinal lentigines (freckles), optic glioma, li-nodule tse peli tsa Lisch, lesapo le ikhethang la masapo joalo ka sphenoid dysplasia, ho sesa ha cortex ea masapo a malelele. kapa ntle le pseudarthrosis, setho sa boemo ba pele se nang le NF1 ho latela lintlha tse ka holimo.

Tlhahlobo ea mofuta oa 2 neurofibromatosis e etsoa ka boteng ba litekanyetso tse 'maloa: ho ba teng ha lihlahala tsa methapo e kopanyang tsebe le bokong) tse bonoang ho MRI, e mong oa batsoali ba tšoeroeng ke NF2 le hlahala ea vestibular e le 'ngoe kapa tse peli. ea tse latelang: neurofibroma; meningioma; glioma;

schwannoma (lihlahala tsa lisele tsa Schwann tse pota-potileng methapo; cataract ea bana.

Batho ba amehang 

Hoo e ka bang batho ba 25 ba Fora ba na le neurofibromatosis. Mofuta oa 000 oa neurofibromatosis o emela 1% ea neurofibromatosis mme o lumellana le mafu a atileng haholo a autosomal a nang le ts'oaetso ea bana ba 95/1 ho isa ho ba 3. Mofuta o sa tloaelehang oa 000 neurofibromatosis o ama batho ba 3 ho ba 500. 

Lintho tse kotsi 

Mokuli a le mong ho ba babeli o kotsing ea ho fetisetsa mofuta oa 1 kapa mofuta oa 2 neurofibromatosis ho bana ba bona. Banab'abo motho ea kulang ba na le kotsi e le 'ngoe ho tse peli ea ho ameha haeba e mong oa batsoali ba babeli a e-na le lefu lena.

Mofuta oa 1 le mofuta oa 2 neurofibtomatosis ha o bake matšoao a tšoanang. 

Matšoao a mofuta oa 1 neurofibromatosis

Matšoao a letlalo 

Matšoao a letlalo ke a mangata ka ho fetisisa: ho ba teng ha li-café au lait spots, 'mala o mosoeu, o chitja kapa oval; lentigine (li-freckles) tlas'a matsoho, mokokotlong oa groin le molaleng, ho na le mebala e mengata e fapaneng (letlalo le lefifi); lihlahala tsa letlalo (cutaneous neurofibromas le subcutaneous neurofibromas, plexiform -mixed cutaneous le subcutaneous neurofibromas).

Lipontšo tsa methapo ea kutlo

Ha li fumanehe ho bakuli bohle. E ka 'na ea e-ba glioma ea litsela tsa optic, lihlahala tsa boko tse ka' nang tsa se ke tsa e-ba le matšoao kapa tsa fana ka matšoao a kang, mohlala, ho fokotseha ha pono kapa ho phunyeha ha leihlo.

Matšoao a mahlo 

Li amahanngoa le ho kenya letsoho ha leihlo, lintši kapa potoloho. Tsena e ka 'na ea e-ba li-nodule tsa Lisch, lihlahala tse nyenyane tse mebala-bala tsa iris, kapa li-neurofibromas tsa plexiform tse ka har'a sekoti sa mahlo. 

Ho ba le lehata le leholo (macrocephaly) ho tloaelehile haholo. 

Matšoao a mang a mofuta oa 1 neurofibromatosis:

• Mathata a ho ithuta le ho senyeha ha kelello 
• Liponahatso tsa masapo, tse sa tloaelehang
• Lipontšo tsa Visceral
• Lipontšo tsa endocrine 
• Lipontšo tsa methapo 

Matšoao a mofuta oa 2 neurofibromatosis 

Matšoao a bona hangata ke tahlehelo ea kutlo, tinnitus le ho tsekela, ka lebaka la boteng ba acoustic neuromas. Karolo e ka sehloohong ea NF2 ke ho ba teng ha li-schwannomas tse peli tsa vestibular. 

Ho senyeha ha mahlo ho tloaelehile. Bothata bo atileng ka ho fetisisa ba mahlo ke lefu la lera la bacha (juvenile cataract). 

Lipontšo tsa letlalo hangata: hlahala ea plaque, schwannomas ea methapo ea peripheral.

Hajoale ha ho na litlhare tse khethehileng tsa neurofibromatosis. Kalafo e na le ho laola mathata. Ho beha leihlo nako le nako bongoaneng le batho ba baholo ho ka lemoha mathata ana.

Mohlala oa tsamaiso ea mathata a mofuta oa 1 neurofibromatosis: cutaneous neurofibromas e ka tlosoa ka ho buuoa kapa ka laser, phekolo ea chemotherapy e thehoa ho phekola li-glioma tse tsoelang pele tsa litsela tsa optic.

Mofuta oa 2 oa li-neurofibromatosis tumors o alafshoa ka ho buuoa le ka radiation. Karolo e kholo ea kalafo ke kalafo ea li-vestibular schwannomas tse peli, le taolo ea kotsi ea ho se utloe litsebeng. Ho kenngoa ha boko ba boko ke tharollo bakeng sa tsosoloso ea kutlo ea bakuli ba sa utloeng litsebeng ke lefu lena.

Neurofibromatosis e ke ke ea thibeloa. Hape ha ho na mokhoa oa ho thibela lipontšo tsa lefu lena ho batho ba nang le lefutso la mofuta oa neurofibromatosis 1 le mofuta oa 2. Ho shebella kamehla ho ka lemoha mathata a ho a laola. 

Tlhahlobo ea pele ho ho kenngoa e etsa hore ho khonehe ho kenya mahe a emolisitsoeng hape ntle le bothata ba lefutso.