Lefu la Recklinghausen le boetse le bitsoa neurofibromatosis mofuta oa I.

Poleloana "neurofibromatosis" e kenyelletsa mafu a mangata a lefutso a amang nts'etsopele ea lisele tsa methapo ea kutlo. Ho na le mefuta e 'meli ea neurofibromatosis: mofuta oa I le mofuta oa II. Mefuta ena e 'meli, leha ho le joalo, e na le litšobotsi tse tšoanang 'me e bakoa ke liphetoho tsa liphatsa tsa lefutso tse fapaneng.

Mofuta oa I neurofibromatosis ke neurodermal dysplasia, e sa tloaelehang ho nts'etsopele ea lisele tsa methapo. Lefu lena le qalile ho hlalosoa ka 1882 ke Friederich Daniel Von Recklinghausen, ke ka hona lebitso la hajoale la lefu lena.

Liphetoho tsa lisele tsa methapo ea kutlo li hlaha ho nts'etsopele ea embryonic.

Mofuta oa I neurofibromatosis ke mofuta o atileng haholo oa neurofibromatosis mme 90% ea linyeoe ke mofuta oa I. Hape ke e 'ngoe ea mafu a atileng haholo a lefutso a batho a nang le ts'oaetso (palo ea linyeoe ho sechaba se itseng, ka nako e fanoeng) e fihlang ho 1/ 3 tsoalo. Ho feta moo, ho ne ho sa hlokomeleha hore banna le basali ba na le matla a maholo. (000)

Lefu la Recklinghausen ke lefu le futsitsoeng leo ho lona mokhoa oa phetisetso e leng oona o ka sehloohong oa autosomal. Kapa, ​​​​e amang chromosome e seng ea thobalano le eo ho ba teng ha kopi e le 'ngoe feela ea liphatsa tsa lefutso tse fetotsoeng ho lekaneng bakeng sa taba ea ho hlahisa lefu lena. Lefu lena ke phello ea liphetoho tsa lefutso la NF1 le fumanehang ho chromosome 17q11.2.

Litšobotsi tsa lefu lena li hlalosoa ka: (2)

- likonopo tsa 'mala oa "kofi-au-lait";

- optic gliomas (lihlahala boemong ba methapo ea kutlo ea mahlo);

- Li-nodule tsa lish (hematomas pigmenting iris ea mahlo);

- neurofibromas ea lesapo la mokokotlo le methapo ea kutlo;

- bokooa ba methapo le / kapa kelello;

- scoliosis;

- ho se tloaelehe ha sefahleho;

- lihlahala tse kotsi tsa sheath ea methapo;

pheochromocytoma (hlahala e kotsi e ka har'a liphio);

- liso tsa masapo.

Lefu la Recklinghausen le ama letlalo le tsamaiso ea methapo e bohareng le ea peripheral. Matšoao a mantlha a amanang le ona hangata a hlaha bongoaneng mme a ka ama letlalo ka tsela e latelang: (4)

- "café au lait" matheba a mebala a letlalo, a boholo bo fapaneng, libopeho tse fapaneng le tse ka fumanoang boemong leha e le bofe ba 'mele;

- ho hlaha matheba ka tlas'a matsoho le ka har'a liphahlo;

- nts'etsopele ea lihlahala methapong ea peripheral;

- nts'etsopele ea lihlahala marang-rang a methapo.

Matšoao le matšoao a mang e ka ba a bohlokoa a lefu lena, a kenyelletsa:

- Li-nodule tsa lish: kholo e ama mahlo;

Pheochromocytoma: hlahala ea tšoelesa ea adrenal, eo karolo ea leshome ea lihlahala tsena e nang le mofetše;

- ho atolosoa ha sebete;

- glioma: hlahala ea methapo ea mahlo.

Tšusumetso ea lefu lena ho nts'etsopele ea masapo e kenyelletsa ho haha ​​​​nako e khutšoanyane, ho fokola ha masapo le scoliosis. (4)

Lefu la Recklinghausen ke lefu le futsitsoeng la mofuta o hlahelletseng oa autosomal. Ebang ke e amanang le chromosome e seng ea thobalano le eo ho ba teng ha kopi e le 'ngoe feela ea liphatsa tsa lefutso tse fetotsoeng ho lekaneng bakeng sa nts'etsopele ea lefu lena.

Lefu lena le bakoa ke liphetoho tse ngata tsa lefutso la NF1, le leng ho chromosome 17q11.2. Ke e 'ngoe ea liphetoho tse iketsahallang feela tse atileng har'a mafu 'ohle a lefutso a batho.

Ke 50% feela ea bakuli ba nang le lefutso la NF1 le fetotsoeng ba nang le nalane ea malapa ea phetiso ea mafu. Karolo e 'ngoe ea bakuli ba amehang e na le liphetoho tse itlelang feela tsa lefutso lena.

Polelo ea lefu lena e fapane haholo ho tloha ho motho e mong ho ea ho e mong ka sehlopha sa lipontšo tsa kliniki tse ka tlohang ho tse bobebe ho isa ho mathata a matla haholo. (2)

Mabaka a kotsi a ho ba le lefu lena ke liphatsa tsa lefutso.

Ha e le hantle, lefu lena le fetisoa ka ho fetisoa ha liphatsa tsa lefutso tsa NF1 ho ea ka mokhoa o ka sehloohong oa autosomal.

Phetoho eo ho buuoang ka eona e amana le jini e teng ho chromosome eo e seng ea thobalano. Ho phaella moo, ho ba teng ha likopi tse peli feela tsa liphatsa tsa lefutso tse fetotsoeng ho lekane hore lefu lena le tsoele pele. Ka kutloisiso ena, motho eo e mong oa batsoali ba hae a nang le phenotype ea lefu lena o na le kotsi ea 50% ea ho ba le lefu lena ka boeena.

Tlhahlobo ea lefu lena ke ea pele ho tsohle tse fapaneng, haholo-holo mabapi le ho ba teng ha matšoao a itseng a khethollang. Sepheo se seholo sa ngaka ke ho tlosa menyetla eohle ea mafu a mang a amehang lipontšong tsena tsa kliniki.

Mafu ana, ao matšoao a 'ona a ts'oanang haholo le a lefu la Recklinghausen, a kenyelletsa:

– Leopard syndrome: lefu la liphatsa tsa lefutso leo matšoao a lona a boetseng a koahelang matheba a sootho letlalong, sebaka se atolositsoeng pakeng tsa mahlo, ho fokotseha ha methapo ea mali, ho lahleheloa ke kutlo, mohaho o monyenyane le ho se tloaelehe ha matšoao a motlakase a pelo;

- neurocutaneous melanoma: lefu la liphatsa tsa lefutso le bakang nts'etsopele ea lisele tsa hlahala bokong le mokokotlong;

- schwannomatosis, lefu le sa tloaelehang le bakang nts'etsopele ea lihlahala liseleng tsa methapo;

- Watson's syndrome: lefu la liphatsa tsa lefutso le lebisang ho nts'etsopele ea li-nodule tsa Lish, sebopeho se senyenyane, neurofibromas, hlooho e kholo ka mokhoa o sa tloaelehang le ho fokotseha ha mothapo oa matšoafo.

Joale litlhahlobo tse eketsehileng li etsa hore ho khonehe ho tiisa kapa che lefu lena, haholo-holo tabeng ea MRI (Magnetic Resonance Imaging) kapa esita le scanner. (4)

Boemong ba lefu le rarahaneng, phekolo ea lona e tlameha ho tsamaisoa likarolong tse sa tšoaneng tsa 'mele o amehang.

Liphekolo tse fanoeng bongoaneng li kenyelletsa:

– tekolo ya bokgoni ba ho ithuta;

- tlhahlobo ea hyperactivity e ka bang teng;

- phekolo ea scoliosis le bokooa bo bong bo tsotehang.

Lihlahala li ka phekoloa ka: (4)

- ho tlosoa ha lihlahala tsa kankere tsa laparoscopic;

- ho buuoa ho tlosa lihlahala tse amang methapo ea kutlo;

- radiotherapy;

- chemotherapy.