Cutar Recklinghausen kuma ana kiranta neurofibromatosis nau'in I.

Kalmar "neurofibromatosis" ya haɗa da yawancin cututtuka na kwayoyin halitta da ke shafar ci gaban salon salula na kyallen takarda. Akwai nau'i biyu na neurofibromatosis: nau'in I da nau'in II. Wadannan siffofi guda biyu, duk da haka, suna da halaye iri ɗaya kuma suna haifar da maye gurbi a cikin kwayoyin halitta daban-daban.

Nau'in I neurofibromatosis shine dysplasia neurodermal, rashin daidaituwa a cikin ci gaban nama na neuronal. Friederich Daniel Von Recklinghausen ne ya fara bayyana wannan cutar a cikin 1882, saboda haka sunan wannan ilimin halin yanzu.

Canje-canje a cikin nama na neuronal yana fitowa daga ci gaban amfrayo.

Nau'in I neurofibromatosis shine mafi yawan nau'i na neurofibromatosis tare da kashi 90% na lokuta suna nau'in I. Har ila yau yana daya daga cikin cututtuka na kwayoyin halittar dan adam da aka fi sani da yawa (yawan lokuta a cikin yawan jama'a, a lokacin da aka ba da shi) wanda ya kai 1/ 3 haihuwa. Bugu da ƙari, ba a sami fifiko tsakanin maza da mata ba. (000)

Cutar Recklinghausen cuta ce da aka gada ta gado wacce hanyar watsawa ta mamaye ta. Ko, wanda ke shafar chromosome wanda ba na jima'i ba kuma wanda kasancewar ɗaya daga cikin kwafi biyu na kwayar halittar da aka canza ya wadatar da batun don haɓaka cutar. Wannan cuta shine sakamakon sauye-sauye a cikin kwayar halittar NF1 dake kan chromosome 17q11.2.

An bayyana halayen cutar ta hanyar: (2).

- "café-au-lait" maɓalli masu launi;

- gliomas na gani (ciwon sukari a matakin tushen jijiya na ido);

lish nodules (hematomas pigmenting da iris na idanu);

- neurofibromas na kashin baya da na gefe;

- rashin lafiyar jijiyoyi da / ko rashin fahimta;

- scoliosis;

- rashin daidaituwa na fuska;

- m ciwace-ciwacen daji na jijiyoyi;

- pheochromocytoma (m ƙari dake cikin kodan);

– raunin kashi.

Cutar Recklinghausen tana shafar fata da tsakiya da tsarin juyayi na gefe. Alamomin da ke da alaƙa na farko suna bayyana a lokacin ƙuruciya kuma suna iya shafar fata kamar haka: (4)

- "café au lait" launuka masu launin fata, masu girma dabam, nau'i daban-daban kuma waɗanda za'a iya samuwa a kowane matakin jiki;

- freckles masu tasowa a ƙarƙashin makamai da a cikin armpits;

- ci gaban ciwace-ciwacen daji a cikin jijiyoyi na gefe;

- ci gaban ciwace-ciwacen daji a cikin cibiyar sadarwa mai juyayi.

Sauran alamu da alamun cutar kuma na iya zama mahimmancin cutar, waɗannan sun haɗa da:

- Lish nodules: girma da ke shafar idanu;

- wani Pheochromocytoma: ƙari na glandar adrenal, wanda kashi goma cikin dari na waɗannan ciwace-ciwacen daji ne;

- girman hanta;

- glioma: ƙari na jijiyar gani.

Tasirin cutar akan ci gaban kashi ya haɗa da ɗan gajeren gini, nakasar kashi, da scoliosis. (4)

Cutar Recklinghausen cuta ce ta gado ta gadon dabi'ar halittar da ta fi girma. Ko dai abin da ya shafi chromosome wanda ba na jima'i ba wanda kasancewar ɗaya daga cikin kwafi biyu na kwayoyin halittar da aka canza ya wadatar don ci gaban cutar.

Cutar ta samo asali ne daga yawan maye gurbi a cikin kwayar halittar NF1, dake kan chromosome 17q11.2. Yana daya daga cikin maye gurbi na kwatsam a tsakanin dukkan cututtukan kwayoyin halittar dan adam.

Kashi 50 cikin 1 na marasa lafiya tare da maye gurbin kwayar halittar NFXNUMX suna da tarihin yada cututtuka na iyali. Sauran ɓangaren marasa lafiyar da abin ya shafa suna da maye gurbi a cikin wannan kwayar halitta.

Maganar cutar tana da matukar canzawa daga mutum ɗaya zuwa wani tare da rukunin bayyanar cututtuka na asibiti wanda zai iya bambanta daga sauƙi zuwa mawuyacin rikitarwa. (2)

Abubuwan haɗari don haɓaka cutar sune kwayoyin halitta.

Lallai, ana kamuwa da cutar ta hanyar canja wurin maye gurbin kwayar halitta ta NF1 bisa ga yanayin da ya fi girma.

Ko dai maye gurbin da ake tambaya ya shafi kwayar halittar da ke kan chromosome wanda ba na jima'i ba. Bugu da kari, kasancewar daya kawai daga cikin kwafi biyu na kwayar halittar da ta canza ya wadatar da cutar. A cikin wannan ma'ana, mutumin da ɗayan iyayensa yana da nau'in cutar da cutar yana da haɗarin 50% na haɓaka pathology da kansa.

Binciken cutar da farko shine bambance-bambance, musamman dangane da kasancewar wasu halayen halayen. Babban makasudin likitan shine ya kawar da duk yuwuwar wasu cututtukan da ke cikin waɗannan bayyanarwar asibiti.

Waɗannan cututtuka, waɗanda alamun su suka yi kama da na cutar Recklinghausen, sun haɗa da:

– Ciwon damisa: cuta ce ta kwayoyin halitta wadda kuma alamominta ke rufe launin ruwan kasa a fatar jiki, fadada sararin samaniya tsakanin idanuwa, kunkuntar jijiya, rashin ji, karamin gini da rashin daidaituwa a cikin sakonnin lantarki na zuciya;

- melanoma neurocutaneous: cututtukan kwayoyin halitta wanda ke haifar da ci gaban kwayoyin tumo a cikin kwakwalwa da kashin baya;

- schwannomatosis, cuta mai wuya wanda ke haifar da ci gaban ciwace-ciwace a cikin nama mai juyayi;

– Ciwon Watson: cuta ta kwayoyin halitta kuma tana haifar da haɓakar nodules na Lish, ƙaramin gini, neurofibromas, babban kai mara kyau da kunkuntar jijiyoyin huhu.

Ƙarin gwaje-gwajen sai ya ba da damar tabbatarwa ko a'a, wannan shine batun MRI (Magnetic Resonance Imaging) ko ma na'urar daukar hotan takardu. (4)

A cikin mahallin cuta mai rikitarwa, dole ne a gudanar da maganinta zuwa sassa daban-daban na jikin da abin ya shafa.

Magungunan da aka rubuta a lokacin ƙuruciya sun haɗa da:

- kimanta iyawar ilmantarwa;

- kimanta yiwuwar hyperactivity;

- maganin scoliosis da sauran nakasassu masu ban mamaki.

Ana iya magance ciwon daji ta hanyar: (4)

- kawar da laparoscopic ciwace-ciwacen daji;

- tiyata don cire ciwace-ciwacen da ke shafar jijiyoyi;

- radiotherapy;

- ilimin kimiyya.