Gaucher (cututtukan "GO shay" a matsayin cututtukan kwayoyin halitta tare da jigilar cututtuka da suka shafi tsarin kwayoyin jiki. A mafi yawan al'amuran Gaucher, mutane suna da alamun bayyanar cututtuka. A wasu nau'o'in cutar Gaucher, cututtuka suna da tsanani kuma suna da wuyar magance. Dole likitanku zai taimake ku koyi abin da zai sa ran ku a cikin halinku na musamman.
Menene Yake Cutar Gaucher?
Labaran cutar shi ne cututtukan kwayoyin cutar da cutar ta haifar da matsala tare da jinsin da ake kira GBA . Wannan rukuni na daga cikin DNA ɗinku, jinsin abin da kuka mallaka daga iyayen ku.
Kwayar GBA tana da alhakin yin wani enzyme da ake kira glucocerebrosidase. A cikin mutanen da ke fama da cutar Gaucher, wannan enzyme ba shi da kasa, ko kuma ba ya aiki kamar yadda ya kamata.
Don fahimtar muhimmancin wannan enzyme, yana da muhimmanci a san game da sashi na tantanin halitta da ake kira lysosome. Lysosomes wanzu ne a matsayin sassan jikin jikinka. Suna taimakawa wajen tsaftacewa da kuma shimfida kayan da jiki ke iya samun damar karya. Suna taka muhimmiyar rawa wajen warware kayan da zasu iya tarawa cikin jiki. Glucocerebrosidase yana daya daga cikin enzymes da ke taimaka wa lysosomes yi haka.
Yawancin lokaci, wannan enzyme yana taimakawa sake maimaita abu mai ma'ana a jikin da ake kira glucocerebroside. Amma a Gaucher cuta, glucocerebrosidase ba ya aiki sosai.
Harshen enzyme bazai yi aiki ba, ko yana iya rage aiki. Saboda haka, glucocerebroside zai fara ginawa a wurare daban-daban na jiki. Wannan yana haifar da bayyanar cututtuka na yanayin.
Lokacin da wasu kwayoyin halitta sun cika da glucocerebroside, an kira su "Gaucher cells". Wadannan Kwayoyin Gaura zasu iya yada kwayoyin halitta, suna haifar da matsaloli.
Alal misali, gina ɗakunan Gaucher a cikin kututtukan kasusuwa ya hana jikinka daga samun damar samar da sababbin jini a can. Ginin glucocerebroside da Gaucher yana da matsala a cikin sutura, hanta, kashi, da kwakwalwa.
Matsaloli da sauran nau'in enzymes a cikin lysosomes zai iya haifar da wasu nau'in cuta. A matsayin rukuni, an kira wadannan nau'in cututtuka na lysosomal.
Yaya Kwayar Cutar Guda ta Koma?
Gaucher cuta wani yanayi ne mai wuya. Yana shafar kusan jaririn da aka haifa daga 100,000. Duk da haka, a wasu kabilu, cutar Gaucher yafi kowa, irin su Yahudawa Ashkenazi. Alal misali, game da ɗayan a cikin yara 450 na wannan tushen kwayar cutar yana da cutar Gaucher.
Labaran cutar shi ne mafi yawancin cututtuka na lysosomal, wanda ya haɗa da wasu yanayi irin su cutar Tay-Sachs da cutar Pompe .
Ta Yaya Yarda Cutar Gaucher?
Wata likita na iya fara zaton cutar ta Gaucher bisa ga alamu da alamun likita. Idan an san mutumin da zai iya cutar cutar a cikin iyalinsu, hakan yana ƙara damuwa da cutar.
Mutanen da ke fama da cutar Gaucher sukan saba samun binciken binciken da ba a saba ba, irin su a kan kututtukan kasusuwa. Wadannan binciken zasu iya taimakawa wajen nunawa zuwa Gaucher.
Akwai gwaje-gwaje da yawa na gwaje-gwaje da gwaje-gwaje wanda likitanku zai iya amfani dasu don kimanta matsayi na Gaucher. Alal misali, likitanku na iya buƙatar MRI don dubawa ga ƙirar ciki na ciki.
Duk da haka, don ganewa na gaskiya, likitanku kuma yana buƙatar fitinar jini ko kuma jikin mutum na fata. Ana amfani da wannan samfurin don ganin yadda glucocerebrosidase ke aiki. Wani madadin shine jinsin kwayoyin jini ko gwaji wanda aka yi amfani dashi don nazarin tsarin GBA.
Saboda mummunar cuta, yawancin likitoci ba su da masaniya da Gaucher. Dalili saboda wannan, ganewar asali na cutar Gaucher wani lokaci yakan dauki lokaci.
Wannan yana da mahimmanci idan babu wani a cikin iyali da aka rigaya san shi da shi.
Mene ne Dabbobi daban-daban na Gaucher Cutar?
Akwai manyan nau'o'i uku na Gaucher: type 1, type 2, da kuma nau'i 3. Wadannan iri sun bambanta da yawa a cikin alamomin su da kuma tsananin su. Nau'in 1 shine nau'i mai nauyin Gaucher. Ba zai shafi tsarin jin tsoro ba, kamar nau'in 2 da kuma cutar 3 Gaucher. Rubutun cututtuka 2 shi ne mafi tsananin tsanani.
Mafi yawan mutanen da ke fama da cutar Gaucher sun kamu da cuta na Type 1. Kimanin kashi 1 cikin dari na mutanen da ke Gaucher suna zaton suna da cuta 2. Kimanin kashi 5 cikin 100 na mutanen Gaucher suna da cuta 3.
Yayin da ake nazarin alamun cutar Gaucher, yana da muhimmanci a tuna cewa mutane suna fama da mummunan cututtuka. Kwayoyin cututtuka suna tasowa tsakanin nau'in nau'in.
Kwayoyin cututtuka na Cutin Gaucher na Type 1
Alamun da alamun bayyanar cututtuka na farko 1 Gaucher na farko ya bayyana a lokacin yaro ko girma. Matsalar lalacewa na iya hada da:
- Raunin kashi na fata
- Lokaci na ƙarshe na ciwo na ƙashi
- Kashi karya
- Osteoporosis
- Arthritis
Rubuta na 1 yana shafar wasu ɓangarorin ciki. Zai iya haifar da fadadawa da hanta (wanda ake kira hepatosplenomegaly). Wannan shi ne yawanci ba mai wahala ba amma yana haifar da farfadowa na ciki da jin dadi.
Rubutun 1 yana sa wani abu da ake kira cytopenia . Wannan yana nufin cewa mutanen da ke fama da cutar Gaucher suna da ƙananan ƙwayoyin jinin jini (haddasa anemia ), da jini mai launin jini, da kuma platelets. Mutane tare da Gaucher na iya samun wasu coagulation da kuma magance matsaloli. Wannan zai haifar da bayyanar cututtuka kamar:
- Wulo
- Ruwa mai saukowa ko murya
- Hanciyar nama
- Ƙarin haɗarin kamuwa da cuta
Cutar cutar zai iya rinjayar huhu, wanda zai haifar da irin wadannan matsaloli kamar:
- Cutar kututtukan ƙwayar cuta
- Rawan jini na jini
- Ƙara
- Rawancin numfashi
Bugu da ƙari, rubuta 1 Gaucher zai iya haifar da:
- Ƙarin haɗari gallstones
- Rashin girma da ci gaba
- Harkokin ilimin kimiyya, irin su halin da ake ciki
- Ciwon zuciya (rare)
- Koda matsalolin (rare)
Wasu mutanen da suke da irin cutar Gaucher 1 suna da mummunar cuta kuma basu iya lura da wani bayyanar cututtuka. Duk da haka, likitoci na iya gano wasu ƙananan hauka tare da taimakon binciken injuna da gwajin hoto.
Kwayoyin cututtuka irin na 2 da kuma Cutin 3 na Gaucher?
Kusan dukkanin tsarin tsarin jiki wanda cutar ta irin wannan cuta zai iya haifar da matsaloli a cikin nau'i na 2 da kuma cutar 3. Duk da haka, iri 2 da 3 suna da ƙarin alamun bayyanar cututtuka. Wadannan bayyanar cututtuka sun fi tsanani a marasa lafiya da cututtuka 2. Wadannan yara yawanci suna mutuwa kafin shekaru 2. A cikin irin wannan cuta, yara sukan mutu jimawa ko kuma jimawa bayan haihuwa. A cikin mutane da nau'in Gaucher 3, waɗannan matsalolin ba su da tsanani, kuma mutane na iya zama cikin 20s, 30s, ko fiye.
Magungunan cututtukan da ba a gani ba ne a cikin nau'i na 2 da kuma irin 3 cututtuka da yawa sun hada da:
- Alamar ido (strabismus)
- Matsaloli tare da abubuwa masu mahimmanci ko canzawa ido
- Riƙe
- Rashin hankali na tsoka
- Ƙarfin tsoka
- Matsaloli da ma'auni da haɗin kai
- Matsaloli da magana da haɗiyewa
- Rawar tunani
- Dementia
Sakamakon mutanen da ke da nau'i na 2 ko sa 3 Gaucher suna da ƙarin alamar bayyanar. Misalan sun hada da canjin fata, matsaloli tare da cornea, da lissafi na zuciya.
Gaucher and Secondary Diseases
Sakamakon cutar yana ƙara haɗarin wasu cututtuka. Alal misali, mutanen da ke Gaucher suna da mummunan hatsari na rashin lafiyar Parkinson . Wasu cututtuka na iya zama mafi yawan mutane tare da cutar Gaucher, ciki har da:
- Magunguna na jini
- Mye myeloma
- Ciwon daji
- Ciwon daji
Mutane tare da Gaucher suna cikin haɗari ga wasu matsalolin na biyu, irin su infarction splenic (rashin yaduwar jini zuwa ga tsuntsu, haifar da mutuwar jiki da ciwon ciki mai tsanani).
Jiyya na Gaucher Cutar
Daidaran kula da cutar Gaucher shine farfadowa mai sauƙi (wani lokaci ake kira ERT). Wannan maganin ya canza mahimmancin Gaucher.
A cikin ERT, mutum yana karɓar nau'in glucocerebrosidase wanda ya hada da haɗin jini ta hanyar jigilar intravenous. Siffofin daban-daban na ERT suna yanzu a kasuwar kasuwanci, amma duk suna samar da enzyme sauyawa. Wadannan su ne:
- imiglucerase (alamar kasuwancin Cerezyme)
- velaglucerase alfa (VPRIV)
- taliglucerase alfa (Elelyso)
Wadannan jiyya suna da matukar tasiri a rage karfin cututtuka, matsalolin jini, da hanta da kuma yalwata girma. Duk da haka, ba suyi aiki sosai wajen inganta sifofin cututtukan da ba a gani ba a cikin nau'i na 2 da kuma rubuta 3 Gaucher cuta.
ERT yana da tasiri sosai wajen rage alamun bayyanar Gaucher 1, da kuma rage wasu alamun bayyanar 3 Gaucher. Abin takaici, saboda nau'in Gaucher na 2 yana da matsalolin matsaloli mai tsanani, ERT ba a bada shawara ba saboda irin wannan. Mutane da nau'i na 2 Gaucher suna karɓar magani ne kawai.
Wani sabon zaɓi na zafin jiki na Gaucher na 1 shine maganin rage ƙwayar maye. Wadannan kwayoyi sun ƙayyade samar da abubuwa wanda glucocerebrosidase ya rushe. Wadannan su ne:
- miglustat (Zavesca)
- eliglustat (Cerdelga)
Miglustat yana samuwa a matsayin wani zaɓi ga mutanen da ba za su iya ɗaukar ERT ba saboda wani dalili. Eliglustat wata magani ne mai mahimmanci wadda ke da wani zaɓi ga wasu mutane tare da Gaucher 1. Yana da sababbin maganin miyagun ƙwayoyi, amma wasu shaidu sun nuna cewa yana da tasiri sosai kamar yadda hanyoyin ta ERT suke.
Wadannan jiyya ga Gaucher na iya zama tsada sosai. Yawancin mutane zasu bukaci yin aiki tare da kamfanonin inshora don ganin cewa zasu iya samun cikakkun ɗaukar hoto.
Mutanen da ke fama da cutar Gaucher ya kamata a bi da su ta hanyar gwani da kwarewa tare da yanayin. Wadannan mutane suna buƙatar bin bi da bi don su ga yadda cutar su ke magancewa. Alal misali, mutane tare da Gaucher sau da yawa suna buƙatar buƙatar ƙwayar ƙasa don ganin yadda cutar ta shafi ƙasusuwan su.
Mutanen da ba su iya karɓar ERT ko sabon saiti na rage ƙwayar substrate na iya buƙatar ƙarin jiyya ga alamun bayyanar Gaucher. Alal misali, waɗannan mutane na iya buƙatar karuwar jini don zub da jini mai tsanani.
Yaya Cutar Gaucher Cutar ta Sami?
Labaran cutar shi ne ƙarancin kwayoyin halitta. Wannan yana nufin cewa mutumin da ke fama da cutar Gaucher ya sami kwafin nau'in FAR din da aka shafi GBA daga kowane iyaye. Mutumin da ke da ɗaya kofi na mahaifa na GBA (wanda ya gaji daga iyayensa) an gaya wa mai ɗaukar yanayin. Wadannan mutane suna da glucocerebrosidase mai yawa da basu da alamun bayyanar. Wadannan mutane ba sa san cewa su masu dauke da cututtuka ne kawai sai dai idan an gano wani dangin su da cutar. Masu sufuri suna cikin haɗarin wucewa a kan wani nau'i na gwargwadon cutar zuwa ga 'ya'yansu.
Idan kai da abokin tarayya duka su ne masu ɗauka don cutar Gaucher, akwai yiwuwar kashi 25 cikin dari na yaro zai sami cutar. Har ila yau, akwai damar da kashi 50 cikin dari na yaro ba zai da cutar ba amma zai zama mai ɗaukar yanayin. Akwai kimanin kashi 25 cikin dari wanda yaronka ba zai cutar da shi ba kuma ba shi da wani mota. Gwajin gwaji na samuwa a cikin lokuta inda yaro yana cikin haɗarin Gaucher.
Yi magana da likitanka idan ka damu da cewa za ka kasance mai dauke da cutar Gaucher dangane da tarihin iyalinka. Idan wani cikin iyalinka yana da cutar Gaucher, zaka iya zama cikin hadari. Za'a iya amfani da gwaje-gwajen kwayoyin don nazarin kwayoyin halittarku kuma ku gani idan kun kasance mai dauke da cutar.
Kalma Daga
Zai iya zama abin ƙyama don sanin cewa kai ko ƙaunataccen yana da cutar Gaucher. Akwai abubuwa da yawa da za a koyi game da gudanar da yanayin, kuma ba dole ba ne ka yi shi gaba daya. Abin farin, tun da kasancewar ERT, mutane da yawa tare da cutar Gaucher na iya haifar da rayuwa mai mahimmanci.
> Sources:
> Nagral A. Gaucher cuta. Journal of Clinical and Experimental > Hepatology. > 2014; 4 (1): 37-50. > doi >: 10.1016 / j.jceh.2014.02.005.
> Pastores GM, Hughes DA. Gaucher Cutar. 2000 Jul 27 [Updated 2015 Feb 26]. A cikin: Adam MP, Ardinger HH, Pagon RA, et al., Masu gyara. GeneReviews® [Intanit]. Seattle (WA): Jami'ar Washington, Seattle; 1993-2018. Ya samo daga: https://www.ncbi.nlm.nih.gov/books/NBK1269/