Matenda a Gaucher ndi matenda obadwa nawo, omwe amachititsa kuti ziwalo zikhale zochepa (makamaka m'chiwindi, nthenda ndi mafupa a mafupa). Kwa nthawi yoyamba matendawa anazindikiritsidwa ndipo anafotokozedwa ndi dokotala wa ku France Philip Gaucher mu 1882. Anapeza maselo enieni mwa odwala omwe ali ndi nthenda yotukulidwa, momwe mafuta osadziwika anasonkhanitsa. Pambuyo pake, maselo amenewa anayamba kutchedwa maselo a Gaucher, ndipo nthendayi, motero, matenda a Gaucher.
Matenda osungirako malungo
Matenda opatsirana (matenda a chiwerengero cha lipids) ndi dzina lofala pa matenda ambiri omwe amabadwa nawo omwe amakhudzidwa ndi kusokonezeka kwa mankhwala enaake. Chifukwa cha zoperewera ndi kusowa kwa mavitamini ena, mitundu ina ya lipids (mwachitsanzo, glycogen, glycosaminoglycans) sizimagawanika ndipo sizimatulutsidwa kuchokera ku thupi, koma zimadziphatika m'maselo.
Matenda osokonezeka ndi osowa kwambiri. Choncho, chofala kwambiri - matenda a Gaucher, amapezeka ndifupipafupi 1: 40000. Nthawi zambiri zimaperekedwa chifukwa chakuti matendawa ndilo cholowa chofanana ndi mtundu wa autosomal recessive species komanso m'mitundu ina yotsekedwa imatha kupezeka kawiri kawiri.
Chizindikiro cha Matenda a Gaucher
Matendawa amachokera ku jini yomwe imayambitsa kaphatikizidwe ka beta-glucocerebrosidase, yomwe imayambitsa matenda enaake (glucocerebrosides). Kwa anthu omwe ali ndi matendawa, mavitamini oyenerera sakukwanira, chifukwa mafuta samagawanitsa, koma amaunjikira m'maselo.
Pali mitundu itatu ya matenda a Gaucher:
- Mtundu woyamba. Fomu yofatsa kwambiri komanso yofala nthawi zambiri. Wodziwika ndi kuwonjezeka kopanda kupweteka kwa nthata, kuwonjezeka kochepa m'chiwindi. Chigawo chapakati cha mitsempha sichinakhudzidwe.
- Mtundu wachiwiri. Maonekedwe amodzimodzi ndi owonongeka kwambiri a neuronal. Zimadziwonetsera kawirikawiri kuyambira ali wakhanda ndipo nthawi zambiri zimatsogolera ku imfa.
- Mtundu wachitatu. Fomu yotsutsana ndi achinyamata. Amapezeka kawirikawiri ali ndi zaka 2 mpaka 4. Pali zilonda za hematopoietic system (fupa la fupa) ndi ululu wosagwirizana mwa dongosolo la mitsempha.
Zizindikiro za Gaucher Matenda
Pamene matendawa, maselo a Gaucher amapindula pang'onopang'ono mu ziwalo. Choyamba pali kuwonjezeka kwa chibowo, ndipo chiwindi, pali ululu m'mapfupa. Pakapita nthawi, chitukuko cha kuchepa magazi m'thupi , thrombocytopenia, kutuluka mwadzidzidzi kumatuluka. Pa matenda a 2 ndi 3, ubongo ndi dongosolo lamanjenje lonse lapansi zimakhudzidwa. Pachikhalidwe chachitatu, chimodzi mwa zizindikilo zomwe zimakhala zoopsa kwambiri kwa dongosolo la manjenje ndi kuphwanya maulendo a maso.
Kuzindikira Matenda a Gaucher
Matenda a Gaucher angapezeke ndi kusanthula maselo a glucocerebrosidase gene. Komabe, njirayi ndi yovuta kwambiri komanso yokwera mtengo, choncho imakhala yovuta kwambiri, pamene matendawa ndi ovuta. Kawirikawiri, matendawa amapangidwa pamene maselo a Gaucher amapezeka pamtambo wa mafupa kapena phala lokulitsa panthawi yomwe imapezeka. Mafilimu a mafupa angagwiritsidwenso ntchito kuti adziwe mavuto omwe amapezeka ndi kuwonongeka kwa mafupa.
Kuchiza kwa Gaucher Matenda
Mpaka lero, njira yokhayo yothandiza kuchiza matenda - njira yothandizira kupatsirana pogwiritsa ntchito maglucerase, mankhwala omwe amachititsa kuti asakhale ndi mavitamini osowa m'thupi. Zimathandiza kuchepetsa kapena kuchepetsa zotsatira za kuwonongeka kwa thupi, kubwezeretsanso thupi lokhazikika. Kusuta mankhwala
Kusakaniza mafupa kapena maselo a tsinde kumatanthawuza mankhwala othandiza kwambiri omwe amafa kwambiri ndipo amagwiritsidwa ntchito ngati mwayi wotsiriza ngati njira zina zothandizira sizingatheke.