Shin guba tana taruwa a cikin ƙwayoyin halittarka? Wannan yana magana ne game da Cututtukan Ajiya na Lysosomal!

Shin kun taɓa jin labarin Cututtukan Ajiya na Lysosomal, ko LSDs? Waɗannan ba kasafai suke faruwa ba, ma'ana yawancin mutane ba sa kamuwa da su, yanayin kwayoyin halitta. A taƙaice dai, waɗannan cututtuka suna haifar da abubuwa marasa so, waɗanda za su iya zama masu guba su taru a cikin ƙwayoyin jikinmu. Bari mu yi magana game da wannan dalla-dalla a yau, ko?

Menene enzymes da lysosomes? Ta yaya suke aiki?

Ka yi tunanin kowace ƙwayar halitta a jikinka kamar ƙaramin masana'anta ce. A cikin waɗannan masana'antun, akwai wani sashe na musamman da ake kira 'Lysosome'. Waɗannan ƙwayoyin halitta suna aiki kamar mai tsaftacewa a gidanmu. Don taimaka musu su yi wannan aikin yadda ya kamata, suna da ma'aikata na musamman da ake kira 'Enzymes'. Waɗannan ƙwayoyin halitta sune abubuwa daban-daban da ke shigowa cikin ƙwayoyin halittarmu, misali:

• Carbohydrates (kamar fiber, sitaci, da sukari)
• Lipids (nau'ikan kitse)
• Sunadaran
• Tsoffin sassan ƙwayoyin halitta marasa amfani

Suna taimakawa wajen wargazawa, wargazawa, da kuma narkar da abubuwa kamar haka. Muna kiran wannan tsari da metabolism . Don haka, waɗannan enzymes da lysosomes suna aiki tare don kiyaye ƙwayoyin halittarmu tsabta da lafiya.

To me ke faruwa a cututtukan ajiya na lysosomal (LSDs)?

To, ka yi tunanin wani ma'aikaci na musamman a sashen tsaftacewa na wannan masana'anta da aka ambata a baya, me zai faru idan wani enzyme bai yi aiki yadda ya kamata ba, ko kuma idan wannan enzyme bai kasance ba kwata-kwata? A lokacin ne matsalar za ta fara.

Wannan shine abin da ke faruwa a jikin wani da ke fama da cutar ajiyar lysosomal (LSD). Ba su da wani enzyme, ko wani abu da ke taimaka wa wannan enzyme aiki (mai kunna enzyme ko mai gyara). Sannan, waɗannan lysosomes ba za su iya wargaza abubuwa kamar kitse da sukari da suke buƙatar wargazawa yadda ya kamata ba.

To me zai faru? Waɗannan abubuwan da ba za su iya karyewa ba suna fara taruwa a cikin ƙwayoyin halitta. Kamar tarin shara ne. Bayan lokaci, waɗannan abubuwan suna zama masu guba kuma suna lalata ƙwayoyin halitta. Wannan lalacewar na iya yaɗuwa kuma ta shafi sassa daban-daban na jikinmu. Misali:

• Kwakwalwa
• Tsarin Jijiyoyi na Tsakiya
• Zuciya
• Tsarin kwarangwal
• Fata

Wannan shine abin da ke faruwa a cikin cutar ajiyar lysosomal (LSD), a takaice.

Akwai nau'ikan cututtukan ajiyar lysosomal (LSDs)?

Eh, zuwa yanzu, masu bincike sun gano nau'ikan cututtukan ajiyar lysosomal (LSDs) sama da 50. Har yanzu ana gano sabbin nau'ikan. Yana da rikitarwa sosai, ko ba haka ba?

Gabaɗaya, waɗannan cututtuka za a iya raba su zuwa manyan nau'i uku dangane da ƙarancin sinadarin enzyme.

Lipidoses

Wannan nau'in cuta yana faruwa ne lokacin da jiki ba shi da wani enzyme da ake buƙata don rushe lipids. Wasu misalai sune:

• Cutar Ajiye Cholesteryl Ester
• Cutar Wolman

Mucopolysaccharidoses

Waɗannan suna faruwa ne lokacin da babu wani sinadarin enzyme da ake buƙata don wargaza glycosaminoglycans, wani nau'in ƙwayar sukari mai rikitarwa . Misalan sun haɗa da:

• Ciwon Hunter
• Cutar Hurler

Sphingolipidoses

Wannan nau'in yana faruwa ne lokacin da babu wani enzyme da ke rushe wani nau'in kitse na musamman da ake kira sphingolipids . Waɗannan sphingolipids abubuwa ne da ke yin ayyuka na musamman, kamar kare saman ƙwayoyin halittarmu. Wasu cututtuka da ke cikin wannan rukuni sune:

• Cutar Fabry
• Cutar Gaucher
• Cutar Krabbe / Ciwon Kwayoyin Halittar Duniya
• Ciwon Leukodystrophy Mai Zurfi
• Cutar Niemann-Pick (NP)
• Cutar Sandhoff
• Cutar Tay-Sachs

Sauran nau'ikan LSDs

Baya ga waɗannan manyan rukunan, akwai wasu nau'ikan LSDs. Misali:

• Cutar Batten
• Cystinosis
• Cutar Danon
• Cutar Pompe

Ka gani, duk waɗannan cututtuka suna faruwa ne sakamakon ƙarancin wani takamaiman enzyme. Cutar da tasirinta sun bambanta dangane da ƙarancin enzyme.

Wa zai iya kamuwa da waɗannan cututtukan ajiyar lysosomal (LSDs)? Yaya yawansu yake?

A gaskiya ma, kowa zai iya kamuwa da cutar lysosomal ajiyayyun kwayoyin halitta (LSD). Duk da haka, wasu kabilu da yankuna sun fi kamuwa da cutar. Misali, wasu nau'ikan LSD sun fi yawa a tsakanin Yahudawa a Gabashin Turai da mutanen Finland.

Waɗannan cututtuka sun zama ruwan dare gama gari har kusan mutum ɗaya ne kawai cikin mutane 40,000 zuwa 60,000 ke da LSDs. Wannan yana nufin cewa waɗannan rukuni ne na cututtuka da ba kasafai ake samun su ba. Shi ya sa mutane da yawa ba su ma ji labarinsu ba.

Me ke haifar da cututtukan ajiyar lysosomal (LSDs)?

Cututtukan ajiyar Lysosomal (LSDs) cututtuka ne na rayuwa da aka gada waɗanda ke faruwa tun daga haihuwa kuma abubuwan da suka shafi kwayoyin halitta ne ke haifar da su . A takaice dai, yawancin waɗannan ana watsa su daga tsara zuwa tsara a matsayin ' Ciwon da ke Cire Kai' .

Yanzu wataƙila kana mamakin ma'anar 'auto-retard'. A taƙaice dai, kamar haka ne:

A al'ada, muna samun kwafin kowace kwayar halitta ɗaya daga kowace iyaye. Domin haɓaka LSD,Dole ne yaron ya gaji kwafin kwayar halittar cutar da aka canza daga uwa da uba. Abu mafi mahimmanci shine cewa waɗannan iyayen kawai suna ɗauke da kwayar halittar da aka canza. Wannan yana nufin cewa ba su da LSD, amma suna da kwayar halittar da za ta iya haifar da cutar.

Don haka, idan iyaye biyu suna ɗauke da ɗa, ga damar da za su samu:

• Akwai kashi 25% (1 cikin 4) damar yaron ya kasance cikin koshin lafiya ba tare da ya gaji wani canjin kwayoyin halitta ba.
• Akwai kashi 25% (1 cikin 4) damar yaro ya kamu da LSD (idan ya gaji kwayar halittar da ta canza daga iyayen biyu).
• Akwai kashi 50% (1 cikin 2) damar cewa yaron zai kasance mai ɗauke da cutar da ba ta nuna alamun cutar ba, kamar yadda iyaye suka yi (idan sun gaji kwayar halittar da aka canza daga iyaye ɗaya kawai).

Shin ka fahimta? Wannan na iya zama kamar abu ne mai rikitarwa, amma haka cututtukan gado ke yaɗuwa.

Akwai wasu nau'ikan LSDs da ake kira X-linked Inheritance . Wannan yana nufin cewa kwayar halittar cutar tana kan X chromosome, don haka yaro (musamman ɗa namiji) zai iya gadon cutar daga uwa shi kaɗai. Cutar Danon, Fabry Disease, da Hunter Syndrome sune irin waɗannan cututtuka guda uku.

Baya ga waɗannan abubuwan da suka haifar da kwayoyin halitta, wani lokacin waɗannan abubuwan na iya taimakawa wajen ƙaruwa ko haɓaka LSDs:

• Kumburi a jiki.
• Damuwar iskar oxygen ita ce hulɗar da ke tsakanin jiki da free radicals , waɗanda sune sakamakon metabolism.

LSDs yawanci suna bayyana ne a lokacin daukar ciki ko kuma jim kaɗan bayan haihuwa. Duk da haka, ba kasafai ake samun su a manya ba. LSDs da suka fara tun suna yara yawanci sun fi tsanani, yayin da waɗanda suka fara daga baya a rayuwa ba su da tsanani sosai.

Mene ne alamun cututtukan ajiyar lysosomal (LSDs)?

Alamomin waɗannan cututtuka na iya bambanta sosai. Ya danganta da:

• Ya danganta da ƙwayoyin halitta ko gabobin da LSD ke shafar.
• Ya dogara da nau'in LSD ɗin da yake.

Duk da haka, akwai wasu alamomi da suka zama ruwan dare ga yawancin nau'ikan LSDs. Waɗannan su ne:

• Faɗaɗa gabobin ciki ba daidai ba, kamar koda, hanta, pancreas, saifa, ko ciki (visceromegaly).
• Canje-canje a cikin tsokoki na ƙashi.
• Sifofin fuska suna ɗan yi tsauri. Misali, goshi mai fitowa, hanci mai faɗi, da kuma lebe mai faɗi .
• Jinkirin ci gaban yaro. Wannan na iya ƙaruwa a hankali akan lokaci.

Idan yaronka yana da ɗaya ko fiye daga cikin waɗannan alamun, yana da matuƙar muhimmanci ka ga likita nan da nan don neman shawara.

Ta yaya ake gano cututtukan ajiya na lysosomal (LSDs)?

Likitoci na iya gano cututtukan ajiyar lysosomal (LSDs) yayin daukar ciki. Suna amfani da gwaje-gwajen tantancewa kafin haihuwa . Misali:

• Amniocentesis (gwajin ruwan da ke cikin mahaifa)
• Samfurin Chorionic Villus (duba wani ɓangare na mahaifa)

Domin a duba LSDs a jarirai, ana iya yin gwajin jini don neman ƙarancin enzymes. Wani lokaci, ana ɗaukar ƙaramin digo na jini (busasshen tabo na jini) daga yatsa, a baza a kan takarda ta musamman, a bar shi ya bushe, sannan a gwada don samun enzymes.

Idan kuna zargin ku ko ɗanku kuna da LSD, za a iya tura ku zuwa ga likitan endocrinologist ko likitan cututtukan yara . Ga yara da manya, likita zai iya ba da shawarar gwaje-gwaje kamar:

• Gwaje-gwajen jini: Duba matakan enzyme.
• Gwajin kwayoyin halitta: Duba ko akwai sauye-sauye a cikin kwayoyin halittarka.
• Nunka biopsy: A ɗauki ƙaramin yanki na fata a duba ko akwai canje-canje a cikin kwayoyin halitta.
• Gwaje-gwajen fitsari/binciken fitsari: Auna adadin abubuwan da enzymes ke amfani da su akai-akai.

Baya ga wannan, ana iya yin wasu gwaje-gwaje don ganin ko gabobin jikinka sun lalace. Misali:

• Cikakken Kididdigar Jini
• Jarrabawar ido
• Gwajin ji
• Gwaje-gwajen zuciya: kamar su echocardiogram da electrocardiogram (EKG) .
• Gwaje-gwajen aikin koda
• Gwaje-gwajen aikin hanta
• Duban MRI (MRI)
• X-ray

Ana amfani da waɗannan gwaje-gwajen don tantance ainihin menene cutar da kuma yadda take da tsanani.

Ta yaya ake magance cututtukan ajiya na lysosomal (LSDs)?

Ana yawan yin maganin cututtukan ajiyar Lysosomal (LSDs) a cibiyoyin kiwon lafiya na musamman. Babu maganin waɗannan cututtuka. Duk da haka, akwai magunguna da za su iya taimakawa wajen magance alamun cutar da kuma rage lalacewar gabobi. Waɗannan sun haɗa da:

• Maganin Sauya Enzyme (ERT): Wannan ya ƙunshi ba da wani enzyme da aka ƙera ta hanyar halitta ga jiki ta hanyar jijiya.
• Dashen Kwayoyin Halitta:Ana dasa ƙwayoyin halitta, ko dai daga masu bayarwa ko kuma daga jinin cibiya. Waɗannan ƙwayoyin halitta na iya taimakawa wajen samar da sinadarin enzyme da ya ɓace. Suna kuma taimakawa wajen rage kumburi da lalacewar nama.
• Maganin Rage Gilashin Ƙasa (SRT): Wannan ya haɗa da ba da magunguna waɗanda ke rage adadin abubuwan da ke taruwa a cikin ƙwayoyin halitta. Misali, ana amfani da Miglustat don Cutar Gaucher. Sauran SRTs a halin yanzu suna cikin gwaje-gwaje na asibiti.

Masu bincike har yanzu suna neman sabbin magunguna don LSDs. Wasu daga cikinsu sun haɗa da:

• Maganin Halitta: Wannan har yanzu yana cikin matakin bincike. Ya ƙunshi maye gurbin kwayoyin halittar da suka lalace da waɗanda suka dace.
• Maganin Magungunan Chaperone (PCT): A cikin wannan, ƙananan ƙwayoyin halitta suna ɗaurewa da enzymes da suka lalace kuma suna inganta aikin lysosomes.

Baya ga waɗannan takamaiman jiyya, ana amfani da wasu jiyya don magance alamun. Misali:

• Magungunan rage garkuwar jiki
• Magungunan hana kumburi marasa steroidal (NSAIDs)
• Katako na ƙashin baya
• Sauran magunguna dangane da alamun cutar da gabobin da abin ya shafa
• Jiyya ta jiki
• Maganin magana
• Wani lokacin tiyata

Za a iya rage haɗarin kamuwa da cututtukan ajiyar lysosomal (LSDs)?

Babu abin da za mu iya yi don rage haɗarin kamuwa da cututtukan ajiyar lysosomal (LSDs) saboda abubuwan da suka shafi kwayoyin halitta ne ke haifar da su. Duk da haka, fara magani da zarar an gano kai ko ɗanka yana da cutar zai iya inganta rayuwarka sosai.

Wane irin makoma ne wanda ke da LSD zai iya tsammani?

Makomar wanda ke da LSD ya dogara da dalilai da yawa:

• Yadda aka gano cutar cikin sauri.
• Wane irin magani za ku samu?
• Kawai dai batun irin LSD ne.
• Ko LSDs za su iya zuwa wurare masu cibiyoyin kiwon lafiya na musamman.

Gabaɗaya, mutumin da ke da mummunan nau'in LSD na iya samun ɗan gajeren tsawon rai. Duk da haka, a cikin marasa tsanani na LSD, idan aka fara magani kafin lalacewar gabobi, yana iya samun damar rayuwa mai tsawo.

Ta yaya zan iya kula da kaina da ɗana yayin da nake rayuwa da LSD?

Idan kai ko ɗanka yana da cutar lysosomal archive disease (LSD), zai iya zama babban ƙalubalen tunani. Saboda haka, yana da matuƙar muhimmanci a nemi taimako daga likitan halayyar ɗan adam. Za su iya koya maka hanyoyin da za su taimaka maka ka jure wa wannan yanayin a motsin rai.

Haka kuma, yana da kyau a shiga ƙungiyoyin tallafi. Ta wannan hanyar za ku iya haɗuwa da wasu mutanen da ke fuskantar irin waɗannan ƙalubalen kuma ku raba abubuwan da suka faru.

Yaushe ya kamata in ga likita?

Idan alamun cutar suna ƙara muni, ko kuma idan ba ka ga wani sakamako daga jiyya ba bayan wani lokaci, ka tabbata ka ga likitanka. Zai iya ba da shawarar wasu magunguna da za su iya taimaka maka.

Saƙon Ƙarshe na Ɗauka Gida

Cututtukan Ajiya na Lysosomal, ko LSDs, rukuni ne na cututtukan kwayoyin halitta marasa yawa waɗanda ke faruwa sakamakon tarin abubuwa masu guba a cikin ƙwayoyin jikinmu. Waɗannan gubobi na iya lalata ƙwayoyin halitta da gabobin jiki daban-daban.

An gano nau'ikan LSD sama da 70. Ana haifar da su ne ta hanyar maye gurbi na kwayoyin halitta. Duk da cewa alamun sun bambanta dangane da nau'in LSD, alamun da aka saba gani sun haɗa da faɗaɗa gabobin ciki, fuskoki masu kauri, da kuma jinkirin ci gaba.

Ana iya gano LSDs a lokacin daukar ciki, a jarirai, ko a yara da manya ta hanyar gwajin jini, gwajin kwayoyin halitta, gwajin biopsy, da gwajin fitsari.

Duk da cewa waɗannan cututtukan ba za a iya warkewa gaba ɗaya ba, akwai magunguna da za su iya taimakawa wajen shawo kan alamun cutar da kuma inganta rayuwar mutane. Saboda haka, yana da matuƙar muhimmanci a gano cutar da wuri kuma a nemi magani mai kyau. Idan kuna da wasu tambayoyi game da wannan, kada ku yi jinkirin tambayar likitan ku, ko?

Cututtukan Ajiya na Lysosomal , LSDs, Cututtukan Halitta, Enzymes, Cututtukan Metabolic, Cututtuka Masu Rauni, Lafiyar Yara