Cutar Gida da Cutar Dama da Tsari
Labaran cutar shi ne yanayin kwayar cutar wanda wani nau'in abu mai mahimmanci, wanda aka sani da lipid, zai fara tara a cikin kwayoyin jikinsu da kuma jikin jikin. Kwayar tana cike da anemia, sauƙaƙawar raunuka, kasusuwan kasusuwa, cuta marasa lafiya, da kuma fadada hanta da kuma yalwatawa.
An labarun cutar ta zama nakasassu na nakasassu , yana nufin cewa yanayin ne wanda aka haifa daga iyayensa.
Ana haifar shi ta hanyar maye gurbin abin da ake kira GBA daga wanda akwai fiye da 380 bambancin daban-daban. Dangane da irin maye gurbin da aka gaji, mutane zasu iya ci gaba da daya daga cikin nau'o'in nau'in cutar.
Daga cikin siffofin uku mafi yawan (nau'i na 1, nau'i na 2, da kuma 3), alamun cututtuka na iya samuwa daga m da kuma yin amfani da barazana ga rayuwa. Za a iya ɗaukar nauyin rayuwa, musamman ga mutanen da ke fama da cutar.
Cutar cutar ta shafi daya daga cikin 40,000 haihuwa a Amurka, bisa ga kididdiga daga Rockville, Maryland na tushen National Gaucher Foundation. Kusan ɗaya daga cikin mutane 100 ana ganin cewa shi ne mai ɗaukar nauyin GBA. Daga cikin Yahudawa Ashkenazi, lambar tana kusa da ɗaya daga cikin 15.
Yadda cutar ke haifar da rashin lafiya
Kwayar GBA ta bada umarnin yin wani nau'i na enzyme da aka sani da beta-glucocerebrosidase. Wannan shi ne enzyme da ke da alhakin warware wani irin lipid da ake kira glucocerebroside.
A cikin mutanen da ke fama da cutar Gaucher, beta-glucocerebrosidase ba ta aiki kamar yadda ya kamata. Ba tare da hanyoyi don rushe lipids ba, matakan zasu fara tarawa cikin kwayoyin halitta, haifar da kumburi da tsangwama tare da aikin salula na al'ada.
Rashin jari na lipids a cikin kwayoyin macrophage (wanda yake da rawar jiki shine kawar da jiki na sharar gida) yana sa su haifar da wani nau'i na "takarda" wanda aka yi amfani da su a matsayin "Gaucher cells".
Hanyoyin cututtukan cututtuka na iya bambanta da nau'in tantanin halitta da ke cikin:
- Rinɗar lipids a cikin kututture na kashin, hanta, yalwa, huhu, da wasu kwayoyin halitta zasu iya haifar da raguwar jini da jini na jini ( pancytopenia ), da hanta mai haɗari da kuma yaduwa, da kuma cutar kututtuka.
- Ƙungiyar Gaucher kwayoyin a cikin kututtukan kasuwa zai iya haifar da thinning daga cikin matsanancin tsari na kashi, kasusuwa kashi, da ƙananan kasusuwa ( Osteopenia ).
- Rushewa daga ma'aunin salula a cikin launi na fata na fata zai iya haifar da canje-canje a cikin launi da launi.
- Rashin jita-jita a cikin tsakiya da kuma na jiki mai juyayi na iya haifar da lalacewa ga suturar da ke jikin kwayoyin jijiya (myelin) da kuma kwayoyin jikinsu.
Irin Gaucher Cutar
An lalata cutar taƙama cikin ɗaya daga cikin nau'i uku. Saboda bambancin bambancin GBA, ƙwayar cuta da kuma irin wannan cuta na iya bambanta da yawa a cikin kowane irin. Nau'in an bayyana su ne:
- Gaucher cuta type 1 (wanda aka sani da cutar neaupathic Gaucher) shi ne mafi yawan al'ada, yana lissafin kashi 95 bisa dari na duk lokuta. Kwayoyin cututtukan da yawa suna nunawa a cikin ƙuruciyar matasa kuma yawanci ya shafi hanta, yalwa, da ƙashi. Kwayar kwakwalwa da kuma juyayi ba su da tasiri sosai.
- Gaucher cuta type 2 (wanda aka fi sani da cutar mummunan ƙananan ƙwayoyin cuta ne) yana shafar ɗayan yara 100,000 da alamun bayyanar da ke farawa a cikin farkon watanni shida na haihuwa. Yana rinjayar tsarin kwayoyin halitta, ciki har da tsarin mai juyayi, kuma yakan haifar da mutuwa kafin shekaru biyu. Saboda masu fama da yawa suna da matashi, ba su tsira da dogon lokaci don ci gaba da ɓarna.
- Gaucher cuta type 3 (wanda aka fi sani da cutar neaupathic Gaucher) yana faruwa a cikin ɗaya daga cikin 100,000 na haihuwar haihuwa kuma zai iya ci gaba a kowane lokaci daga yaro har zuwa girma. Ana dauke da nau'in nau'i mai nauyin cigaba mai saurin ci gaba 2. Mutane masu nau'in 3 suna rayuwa a cikin yarinyar ko matasan tsufa.
Cutar cututtuka
Alamar cututtuka na Gaucher zai iya bambanta amma zai kusan samun jini, yalwa, ko hanta. Daga cikin mafi yawan bayyanar cututtuka:
- Dama saboda anemia
- Kuskuren gaggawa saboda ƙididdigar ƙananan platelet
- Ƙunƙwarar ciki saboda ciwon hanta da kuma yalwatawa
- Yellowish-launin fata fata launi
- Dry, flaky fata ( ichthyosis )
- Raunin ciwo, ciwon haɗin gwiwa, fractures kashi, da osteoporosis
Ana nuna yawan bayyanar cututtuka a cikin nau'i na 2 da kuma cutar 3 amma yana iya faruwa a cikin nau'i na 1. Sun haɗa da:
- Rubutun 1: lalacewar ƙwarewa da jin ƙanshi
- Rubutun 2: sacewa , adasanci , hakora , da kuma jinkirin tunanin mutum
- Rubutun 3: ƙuƙwalwar ƙwayoyin tsoka, ƙyamar jiki, damuwa , da kuma motsawar ido
Mutanen da ke fama da cutar Gaucher sun bayyana cewa suna da mummunar haɗari na myeloma (ciwon ciwon ƙwayoyin plasma a cikin kututtukan kasusuwan) da kuma cutar ta Parkinson (wanda yake da dangantaka da maye gurbin mutun na GBA).
Rashin Halitta
Kamar yadda yake tare da duk wani mummunar rikici, Gaucher ya faru ne lokacin da iyaye biyu ba su da cutar sai kowanne ya ba da gudummawa ga zuriyarsu. Iyaye suna dauke da "masu sufurin" saboda kowannensu yana da wata mahimmanci na al'ada (na al'ada) na jinsin da kuma daya daga baya (muted) kwafin ginin. Abin sani kawai idan mutum yana da kwayoyin halitta biyu da Gaucher zai iya faruwa.
Idan iyaye biyu masu sufuri ne, ƙananan haɗarin samun dan Gaucher kamar haka:
- Kashi 25 cikin dari na damar samun kashi biyu na kwayoyin halitta (shafi)
- Rabin kashi 50 na rinjaye daya kuma daya daga cikin kwayoyin halitta (mota)
- 25 kashi damar samun biyu rinjaye kwayoyin (unaffected)
Genetics zai iya kara ƙayyade halin mutum game da yarinya da cutar Gaucher. Wannan shi ne ainihin gaskiya ga Yahudawan Ashkenazi wanda Gaucher yake da hatsari fiye da 100 na yawan jama'a.
Cutar da ke dauke da kwayar cutar ta hanyar da ake kira "wanda aka kafa" wanda cutar da aka gada ta iya komawa ga magaba daya. Saboda rashin bambancin kwayar halitta a cikin wadannan rukuni, wasu maye gurbi sun wuce fiye da yara, wanda hakan ya haifar da mummunan yawan cututtuka na masu tayar da hankali.
Matsayin da yake shafi Yahudawa Ashkenazi yana da alaƙa da nau'i na 2 kuma za'a iya dawo da shi a matsayin Tsakiyar Tsakiya.
Hakazalika, ana ganin mutum 3 a cikin mutanen Norrbotten na Sweden kuma an gano shi a matsayin mai kafa guda wanda ya isa Arewacin Sweden a ko kafin karni na 16.
Sanin asali
Mutane da ake zargi da cutar Gaucher za su fuskanci gwaje-gwaje don duba matakin beta-glucocerebrosidase a cikin jini. Matakan da ke tsakanin kashi 15 cikin dari na al'ada, tare da maganin cututtuka, yawanci ya isa ya tabbatar da ganewar asali. Idan akwai wata shakka, za a iya gwada gwajin kwayoyin don gane fassarar GBA.
Dikita zai yi gwaje-gwaje don tantance lalacewar kasusuwa, yalwa, ko hanta. Wannan yana iya haɗar gwaje-gwajen hanta , mai kwakwalwa X-ray absorptiometry (DEXA) yayi nazari don auna ma'aunin kashi, ko hotunan fuska mai mahimmanci (MRI) yayi nazari don kimanta yanayin hanta, ƙwaƙwalwa, ko ɓacin jini.
Jiyya Zɓk
Idan mutum yana da Gaucher cututtuka irin na 1 ko kuma nau'in 3, magani zai hada da tsarin maye gurbin enzyme (ERT). Wannan zai haifar da isar da beta-glucocerebrosidase na roba ta hanyar raguwa.
Cibiyar Abinci da Harkokin Kiyaye na Amurka (FDA) ta amince da irin wadannan kwayoyi guda uku don wannan amfani:
- Cerezyme (imiglucerase)
- Elelyso (taliglucerase)
- Vpriv (velaglucerase)
Duk da yake ERT yana da tasiri a rage girman hanta da kuma yalwatawa, rage ƙananan ƙwaƙwalwar ƙwala, kuma sake juyayin sauran cututtuka na cutar, yana da tsada (fiye da $ 200,000 a kowace shekara). Har ila yau, ƙananan iya ƙetare ƙwayar cutar ƙwaƙwalwar ƙwayar cuta , yana nufin cewa bazai iya tasiri wajen magance matsalolin kwakwalwa mai tsanani ba.
Bugu da ƙari, saboda Gaucher wani cututtuka ne mai wuya, babu wanda ya tabbata abin da ake buƙata don samo kyakkyawan sakamako ba tare da cutar da cutar ba.
Bayan ERT, ƙwayoyin magunguna biyu sun yarda da FDA don hana hana lipids a cikin mutanen da suka kamu da cutar Gaucher 1:
- Zavesca (miglustat)
- Cerdelga (Eliglustat)
Abin baƙin ciki, babu magani mai mahimmanci ga cutar cutar Gaucher 2. Za a mayar da hankali ga aikin magance cututtukan cututtuka kuma zai iya amfani da maganin maganin rigakafin kwayoyi, magungunan magunguna, da gogewa, da kuma ciyar da tubes .
Nazarin kwayoyin halitta
Saboda cutar Gaucher wata cuta ce da ta wuce daga iyaye zuwa zuriya, mafi yawancin ba su san cewa su masu sufuri ne ba domin basu da cutar kansu.
Idan kun kasance cikin wata haɗari mai haɗari ko kuna da tarihin iyali na cutar Gaucher, kuna iya ɗaukar nazarin kwayoyin don gano matsayin ku. Duk da haka, jarrabawar kawai zata gano iyakoki takwas na GBA kuma yana da ƙuntatawa a abin da zai iya gaya maka game da hadarinka na ainihi.
Ma'aurata da aka sani ko ake zargi da damuwa zasu iya kawar da gwaje-gwajen kwayoyin da aka yi a lokacin daukar ciki ta hanyar cire kwayoyin tayi tare da amniocentesis ko zabin chorionic villus (CVS). Idan aka lura da damun Gaucher, za a iya yin nazari mafi mahimmanci don gane da irin wannan.
Idan an mayar da sakamako mai kyau, yana da muhimmanci a yi magana da likita na musamman don fahimtar abin da ganewar asali ke nufi da abin da zaɓuɓɓukanku suke. Babu wani zaɓi na dama ko kuskure, kawai waɗanda ke da kanka da abin da kai da abokinka suna da kowane dama ga sirri da girmamawa.
> Sources:
> Campbell, T. da Choy, R. "Gaucher cuta da synucleinopathies: refining da dangantaka." Orphanet J Rare Dis. 2012: 7:12. DOI: 10.1186 / 1750-1172-7-12.
> Nagral, A. "Gaucher Cutar." J Clin Exp Hepatol . 2014; 4 (1): 37 -50. DOI: 10.1016 / j.jceh.2014.02.005.
> Gaucher Foundation. "Mene ne Gaucher Cutar?" Rockville, Maryland.
> Cibiyoyin Lafiya na Ƙasar. "Gaucher cuta." Gidajen Gida Ref. Bethesda, Maryland; sabunta Janairu 30, 2018.