Chirwere cheRecklinghausen chinonziwo neurofibromatosis type I.

Izwi rekuti "neurofibromatosis" rinosanganisira huwandu hwezvirwere zvemajini zvinokanganisa kugadzirwa kwesero ye neuronal tishu. Kune marudzi maviri eurofibromatosis: mhando I uye mhando II. Aya mafomu maviri, zvisinei, ane maitiro akafanana uye anokonzerwa nekushanduka kwemajini akasiyana.

Type I neurofibromatosis inonzi neurodermal dysplasia, kusagadzikana mukugadzirwa kweneuronal tissue. Iyi pathology yakatanga kutsanangurwa muna 1882 naFriederich Daniel Von Recklinghausen, nekudaro zita razvino rechirwere ichi.

Shanduko mumatishu emutsinga anoonekwa kubva mukukura kwe embryonic.

Type I neurofibromatosis ndiyo inonyanyozivikanwa yerudzi rweneurofibromatosis ine 90% yezviitiko zviri type I. Ichowo chimwe chezvirwere zvinotapukira zvevanhu zvine kupararira (nhamba yezviitiko muhuwandu hwakapihwa, panguva yakapihwa) inosvika 1/ 3 kuberekwa. Uyezve, hapana hukuru hwakaonekwa pakati pevarume nevakadzi. (000)

Chirwere cheRecklinghausen chirwere chakagara nhaka umo nzira yekutapurirana ndiyo inotonga autosomal. Kana, iyo inokanganisa chromosome isiri yepabonde uye iyo kuvapo kweimwe chete yemakopi maviri ejini yakashandurwa inokwana kuti nyaya yacho iite chirwere. Chirwere ichi mhedzisiro yekuchinja kwegene reNF1 riri pachromosome 17q11.2.

Hunhu hwechirwere hunotsanangurwa ne: (2)

- "kofi-au-lait" mabhatani emavara;

- optic gliomas (mamota pamwero weocular nerve midzi);

- Lish nodules (hematomas pigmenting iris yemaziso);

- neurofibromas yemusana uye peripheral nerve;

- tsinga uye / kana kukanganiswa kwekuziva;

- scoliosis;

- kukanganisa kwechiso;

- mamota akaipa etsinga sheath;

pheochromocytoma (bundu rinokuvadza riri muitsvo);

- maronda emapfupa.

Chirwere cheRecklinghausen chinokanganisa ganda uye nechepakati nepakati tsinga. Zviratidzo zvekutanga zvakabatanidzwa zvinowanzoitika muhuduku uye zvinogona kukanganisa ganda sezvinotevera: (4)

- "café au lait" mavara eganda ane mavara, ehukuru hwakasiyana, maumbirwo akasiyana uye anogona kuwanikwa chero nhanho yemuviri;

- maburi ari kukura pasi pemaoko nemuhapwa;

- kuvandudzwa kwemamota mumutsara weperipheral;

- kuvandudzwa kwemamota mumambure network.

Zvimwe zviratidzo uye zviratidzo zvinogonawo kuve zvakakosha zvechirwere, izvi zvinosanganisira:

- Lish nodules: kukura kunokanganisa maziso;

- a Pheochromocytoma: bundu readrenal gland, iyo gumi muzana yemamota aya ane kenza;

- kuwedzera kwechiropa;

- glioma: bundu reoptic nerve.

Kukanganisa kwechirwere pakukura kwebhonzo kunosanganisira kuvaka kupfupi, kuremara kwebhonzo, uye scoliosis. (4)

Chirwere cheRecklinghausen chirwere chakagarwa nhaka che autosomal dominant form. Chero iyo inobata chromosome isiri yepabonde uye iyo kuvepo kweimwe chete yemakopi maviri eiyo mutated gene inokwana pakukura kwechirwere.

Chirwere ichi chinokonzerwa nehuwandu hwekuchinja muNF1 gene, iri pachromosome 17q11.2. Ndiyo imwe yeanowanzo chinja ega ega pakati pezvirwere zvese zvevanhu.

Chete 50% yevarwere vane mutated NF1 gene vane nhoroondo yemhuri yekutapurirwa kwechirwere. Chimwe chikamu chevarwere vane chekuita nekuchinja kwemajini ichi.

Kutaura kwechirwere kunosiyana zvakanyanya kubva kune mumwe munhu kune mumwe nepaneru yekiriniki zviratidzo zvinogona kubva kune zvinyoro kusvika kune zvakanyanya kuoma matambudziko. (2)

Zvikonzero zvinokonzeresa kukura kwechirwere ndezvako.

Zvechokwadi, chirwere chacho chinoparidzirwa nekuendeswa kweiyo mutated NF1 gene maererano ne autosomal dominant mode.

Chero shanduko iri mubvunzo ine chekuita nejini riri pachromosome isiri yebonde. Mukuwedzera, kuvapo kweimwe chete yemakopi maviri ejini yakashandurwa yakakwana kuti chirwere chiwedzere. Nenzira iyi, mumwe wevabereki vake ane phenotype yechirwere ane mukana we50% wekuita chirwere pachake.

Kuongororwa kwechirwere ndiko kutanga kwezvose zvakasiyana, kunyanya maererano nekuvapo kwezvimwe zviratidzo zvehutano. Chinangwa chikuru chechiremba ndechekubvisa zvose zvingangoitika zvezvimwe zvirwere zvinobatanidzwa mune izvi zviratidzo zvekliniki.

Zvirwere izvi, izvo zviratidzo zvakada kufanana nezvechirwere cheRecklinghausen, zvinosanganisira:

- Leopard syndrome: chirwere chemajini chine zviratidzo zvakare zvinofukidza mavara ebrown paganda, nzvimbo yakawedzera pakati pemeso, kutetepa kwecoronary artery, kurasikirwa kwekunzwa, kuvakwa kudiki uye kusagadzikana mumagetsi masaini emwoyo;

-Neurocutaneous melanoma: chirwere chemajini chinokonzera kukura kwemasero emamota muuropi nemuzongoza;

- schwannomatosis, chirwere chisingawanzoitiki chinokonzera kukura kwemamota mumutsara wetsinga;

- Watson's syndrome: chirwere chemajini chinotungamirawo mukuvandudzwa kwemanodule eLish, chivakwa chidiki, neurofibromas, musoro wakakura zvisingaite uye kutetepa kwepulmonary artery.

Ongororo yokuwedzera inobva yaita kuti zvikwanisike kusimbisa kana kuti kwete chirwere chacho, ichi ndicho chiitiko cheMRI (Magnetic Resonance Imaging) kana kunyange scanner. (4)

Mumamiriro ezvinhu echirwere chakaoma, kurapwa kwayo kunofanira kupiwa kune zvikamu zvakasiyana-siyana zvemuviri unobatanidzwa.

Mishonga inonyorerwa muhuduku inosanganisira:

- kuongorora kugona kudzidza;

- kuongororwa kwezvinogona kuitika hyperactivity;

- kurapwa kwe scoliosis uye zvimwe zvinoshamisa kuremara.

Mamota anogona kurapwa ne: (4)

- laparoscopic kubviswa kwemamota kenza;

- kuvhiyiwa kubvisa mapundu anokanganisa tsinga;

- radiotherapy;

- chemotherapy.