Gaucher matenda - otengera kwa makolo matenda kagayidwe zamadzimadzi

Cholowa matenda kagayidwe Nthawi zambiri ndi zolakwika chathu chofuna cha kaphatikizidwe enzyme. Ndi nazonso ndi matenda Gaucher.

matenda Gaucher - ndi kobadwa nako cholowa matenda, amene amagwirizana ndi mkhutu kagayidwe zamadzimadzi. Chifukwa cha kudwala izi ananena kudzikundikira mu mafupa ena ndi ziwalo madipoziti yeniyeni mafuta.

Mu thupi la munthu pali masauzande a zinthu zosiyanasiyana yogwira, wotchedwa michere, kapena, monga ife anazolowera kumva michere. Chimodzi mwa zinthu zimenezi - glyukotseribrozidaza, chifukwa cha mtundu winawake wa mafuta (glucocerebroside) imapititsa ndi pogawanikana pamawere la tinthu lapansi. Gaucher matenda - kwambiri matenda osowa kuti umaoneka anthu zochepa chabe lonse. Pa matenda chomwecho odwala glyukotseribrozidazy pang'ono kwambiri. Chifukwa cha kuperewera enzyme mu thupi la anasonkhanitsa maselo Gaucher omwe anasonkhana nerasschiplennye molekyulu mafuta.

Akatswiri fissile matenda Gaucher ndi mitundu 3:

Mtundu 1 ndi yofala kwambiri matenda. Khalidwe lalikulu zosiyanasiyana, gawo la matenda kagayidwe kachakudya cholowa - alibe neyronopatii. Kwa anthu ambiri, pamafunika zizindikiro pang'ono kapena ayi. Koma Dziwani kuti ena odwala ndi zizindikiro kwambiri kapena ngakhale moyo pachiswe. Muyeneranso kudziwa kuti wamanjenje dongosolo ndi ubongo si bwanji.

Mtundu 2 limapezeka kamodzikamodzi kuposa mtundu woyamba, koma ali ndi zizindikiro kwambiri, zomwe akufotokozera mu chaka choyamba cha moyo, ndipo akutitsogolera kuti kutchulidwa matenda a ubongo (pachimake neyronopatiya), komanso zizindikiro zina. Odwala ambiri sadzakhala ndi moyo mpaka zaka ziwiri.

Mtundu 3 ndi osowa ndithu, koma osachepera mtundu wachiwiri. Pakuti yodziwika ndi maonekedwe zizindikiro ubongo, koma iwo sali umaonetseredwa, monga mwa mtundu wachiwiri wa matenda Gaucher (aakulu neyronopatiya). Zizindikiro zoyambirira akhoza anaona ana, koma wodwala ukawona ukalamba.

Zizindikiro zazikulu

matenda Gaucher, monga tatchulazi kumabweretsa mfundo yakuti mu ziwalo mkati, ndipo nthawi zambiri mu chiwindi, mafupa ndi seleznke kudziunjikira maselo Gaucher. Zimenezi zimabweretsa chakuti akuluakulu aboma kukula kukula, akuyamba kuchepa magazi, komanso zizindikiro zina zambiri kuwonetseredwa. Wachiwiri ndi wachitatu mtundu wa matenda yodziwika ndi zotupa ya ubongo ndi ubongo makamaka.

Gaucher matenda, chithunzi cha zimene zili m'nkhani ino si kugonana zogwirizana. The symptomatology kumachitika pa msinkhu wina uliwonse, koma Dziwani kuti wachiwiri ndi wachitatu mtundu ali ambiri mwa ana. Monga matenda si osadalira pa mpikisanowu, koma, malinga ndi ziwerengero zambiri poyera kuti matenda Ashkenazi Ayuda.

M'pofunikanso kukumbukira kuti ndi matenda otengera ndi choopsa kwambiri. Choncho, ngati mbiri banja lanu la fermentopathy cholowa izi, ndiye muyenera kuona katswiri amene angakuthandizeni kudziwa ngati matenda muli.