Uturu huri kuungana mumasero ako here? Izvi ndezveLysosomal Storage Diseases!

Wakambonzwa nezveLysosomal Storage Diseases, kana LSDs here? Izvi hazviwanzoitiki, zvichireva kuti vanhu vazhinji havazviwani, zvirwere zvemajini. Zvichitaurwa zviri nyore, zvirwere izvi zvinokonzera zvinhu zvisingadiwi, zvinogona kunge zvine chepfu kuti zviungane mumasero emuviri wedu. Ngatitaurei nezvazvo zvakadzama nhasi, handiti?

Chii chinonzi ma enzymes ne lysosomes? Anoshanda sei?

Fungidzira kuti sero rega rega riri mumuviri wako rakaita sefekitori diki. Mukati memafekitori aya, mune dhipatimendi rakakosha rinonzi 'Lysosome'. Aya malysosome anoshanda semuchenesi mumba medu. Kuti avabatsire kuita basa iri nemazvo, vane vashandi vakakosha vanonzi 'Enzymes'. Aya maenzyme zvinhu zvakasiyana-siyana zvinouya mumasero edu, semuenzaniso:

• Makabhohaidhiretsi (zvinhu zvakaita sefayibha, starch, uye shuga)
• Mafuta (mhando dzemafuta)
• Mapuroteni
• Zvikamu zvemasero zvekare, zvisingabatsiri

Dzinobatsira kupwanya, kupwanya, uye kugaya zvinhu zvakadaro. Tinodaidza maitiro aya kuti metabolism . Saka, ma enzyme aya ne lysosomes zvinoshanda pamwe chete kuchengetedza masero edu akachena uye ane hutano.

Saka chii chinoitika muzvirwere zve lysosomal storage diseases (LSDs)?

Zvino fungidzira mushandi akakosha mudhipatimendi rekuchenesa refekitori iyoyo yambotaurwa, chii chinoitika kana imwe enzyme isiri kushanda nemazvo, kana iyo enzyme isipo zvachose? Ndipo panotanga dambudziko.

Ndizvo zvinoitika mumuviri wemunhu ane chirwere che lysosomal storage disease (LSD). Havasi ne enzyme yakati, kana chimwe chinhu chinobatsira kuti enzyme iyoyo ishande (enzyme activator kana modifier). Zvadaro, ma lysosome iwayo haakwanise kuputsa zvinhu zvakaita semafuta neshuga zvavanoda kuputsa.

Saka chii chinoitika? Zvinhu izvi zvisingaputsike zvinotanga kuungana mukati memasero. Zvakaita semurwi wemarara. Nekufamba kwenguva, zvinhu izvi zvinova chepfu uye zvinokuvadza masero. Kukuvadzwa uku kunogona kupararira uye kukanganisa nhengo dzakasiyana-siyana mumuviri wedu. Semuenzaniso:

• Uropi
• Sisitimu Yepakati Yetsinga
• Mwoyo
• Sisitimu yeMafupa
• Ganda

Izvi ndizvo zvinoitika muchirwere che lysosomal storage disease (LSD), kana tichizvitsanangura zviri nyore.

Kune mhando dzezvirwere zve lysosomal storage diseases (LSDs) here?

Ehe, kusvika pari zvino, vaongorori vaona marudzi anopfuura makumi mashanu ezvirwere zve lysosomal storage diseases (LSDs). Mhando itsva dzichiri kuwanikwa. Zvakaoma zvikuru, handiti?

Kazhinji, zvirwere izvi zvinogona kukamurwa kuita mhando nhatu huru zvichienderana neenzyme isina kukwana.

Mafuta akawandisa mumuviri

Rudzi urwu rwechirwere runoitika kana muviri usina enzyme inodiwa kuti uparadze mafuta (lipids). Mimwe mienzaniso ndeiyi:

• Chirwere Chekuchengetera Cholesteryl Ester
• Chirwere cheWolman

Mucopolysaccharidoses

Izvi zvinoitika kana enzyme inodiwa kupwanya glycosaminoglycans, rudzi rwemorekuru yeshuga yakaoma, isipo. Mienzaniso inosanganisira:

• Chirwere cheHunter
• Chirwere chaHurler

Sphingolipidoses

Rudzi urwu runoitika kana paine kushomeka kwe enzyme inopwanya rudzi rwakakosha rwemafuta anonzi sphingolipids . Aya ma sphingolipids zvinhu zvinoita mabasa akakosha, akadai sekudzivirira pamusoro pemasero edu. Zvimwe zvirwere zviri muchikamu ichi ndeizvi:

• Chirwere cheFabry
• Chirwere cheGaucher
• Chirwere cheKrabbe / Globoid Cell Leukodystrophy
• Leukodystrophy yeMetachromatic
• Chirwere cheNiemann-Pick (NP)
• Chirwere cheSandhoff
• Chirwere cheTay-Sachs

Mamwe marudzi eLSD

Kuwedzera kune aya mapoka makuru, kune mamwe marudzi eLSD. Semuenzaniso:

• Chirwere cheBatten
• Cystinosis
• Chirwere cheDanon
• Chirwere chePompe

Unoona, zvirwere izvi zvose zvinokonzerwa nekushaikwa kweenzyme chaiyo. Chirwere chacho nemigumisiro yacho zvinosiyana zvichienderana neenzyme isina kukwana.

Ndiani anogona kuwana zvirwere izvi zve lysosomal storage diseases (LSDs)? Zvakawanda sei?

Kutaura zvazviri, chero ani zvake anogona kubatwa nechirwere che lysosomal storage disease (LSD). Zvisinei, mamwe marudzi nematunhu ane mukana wekuva nechirwere ichi. Semuenzaniso, mamwe marudzi eLSD anowanikwa zvakanyanya mumaJuda ekuEastern Europe uye muvanhu vekuFinland.

Zvirwere izvi zvakajairika zvekuti munhu mumwe chete pavanhu 40,000 kusvika 60,000 ane LSDs. Izvi zvinoreva kuti idzi iboka rezvirwere risingawanzoitiki . Ndosaka vanhu vazhinji vasati vatombonzwa nezvazvo.

Chii chinokonzera zvirwere zve lysosomal storage diseases (LSDs)?

Zvirwere zveLysosomal storage diseases (LSDs) zvirwere zvinogarwa nhaka zve metabolic disorders zviripo kubva pakuzvarwa uye zvinokonzerwa nemagene factors . Kutaura chokwadi, mazhinji acho anopfuudzwa kubva kuchizvarwa kuenda kune chimwe se ' Autosomal Recessive Disorders' .

Zvino pamwe uri kushamisika kuti 'auto-retard' zvinorevei. Zvichitaurwa zviri nyore, zvakaita seizvi:

Kazhinji, tinowana kopi imwe chete yejini rega rega kubva kumubereki wega wega. Kuti tigadzire LSD,Mwana anofanira kugara nhaka kopi yejini rakachinjwa rechirwere kubva kuna amai nababa. Chinhu chakakosha ndechekuti vabereki ava ndivo chete vanotakura jini rakachinjwa. Izvi zvinoreva kuti havana LSD, asi vane jini rinogona kukonzera chirwere.

Saka, kana vabereki vese vari ivo vane chirwere ichi, heino mikana yekuti vabereke mwana:

• Pane mukana we25% (1 pa4) wekuti mwana achava neutano hwakanaka asina kugara nhaka chero majini akachinjwa.
• Pane mukana we25% (1 pa4) wekuti mwana achava neLSD (kana akagara nhaka gene rakachinjwa kubva kuvabereki vese).
• Pane mukana we50% (1 pa2) wekuti mwana achava nechirwere ichi asina zviratidzo, kungofanana nevabereki (kana vakagara nhaka jini rakachinjwa kubva kumubereki mumwe chete).

Unonzwisisa here? Izvi zvingaita sezvakaoma zvishoma, asi ndizvo zvinoita kuti zvirwere zvemajini zvipararire.

Kune mamwe marudzi eLSD anonzi X-linked Inheritance . Izvi zvinoreva kuti jini rechirwere iri paX chromosome, saka mwana (kunyanya mwana wechirume) anogona kugara nhaka yechirwere kubva kuna amai chete. Danon Disease, Fabry Disease, uye Hunter Syndrome ndidzo nhatu dzezvirwere zvakadaro.

Kuwedzera kune izvi zvinokonzera majini, dzimwe nguva zvinhu zvinotevera zvinogonawo kukonzera kuwedzera kana kukura kweLSD:

• Kuzvimba mumuviri.
• Kushushikana kwe oxidative ndiko kusangana kwemuviri nema free radicals , ayo ari zvibereko zve metabolism.

MaLSD anowanzoonekwa panguva yekuzvitakura kana nguva pfupi mushure mekuzvarwa. Zvisinei, kashoma, anogona kutangawo muvanhu vakuru. MaLSD anotanga muhudiki anowanzova akaoma, nepo ayo anotanga gare gare muhupenyu angasanyanya kuoma.

Ndezvipi zviratidzo zvezvirwere zve lysosomal storage diseases (LSDs)?

Zviratidzo zvezvirwere izvi zvinogona kusiyana zvikuru. Zvinoenderana ne:

• Zvichienderana nekuti ndeapi masero kana nhengo dzinokanganiswa neLSD.
• Zvinoenderana nekuti imhando yeLSD ipi.

Zvisinei, kune zviratidzo zvishoma zvinowanikwa mumhando zhinji dzeLSD. Izvi ndeizvi:

• Kukura kusina kujairika kwenhengo dzemuviri mudumbu, dzakadai seitsvo, chiropa, pancreas, spleen, kana dumbu (visceromegaly).
• Kuchinja kwetsandanyama dzemapfupa.
• Chiso chinotanga kushata zvishoma. Semuenzaniso, huma yakabudikira, mhino yakati sandara, uye miromo yakakura .
• Kunonoka kukura kwemwana. Izvi zvinogona kuwedzera zvishoma nezvishoma nekufamba kwenguva.

Kana mwana wako aine chimwe chezviratidzo izvi kana kupfuura, zvakakosha kuti uone chiremba nekukasika kuti akupe mazano.

Zvirwere zveLysosomal storage (LSDs) zvinoonekwa sei?

Vanachiremba vanogona kuona zvirwere zve lysosomal storage diseases (LSDs) panguva yekuzvitakura. Vanoshandisa bvunzo dze prenatal tests . Semuenzaniso:

• Amniocentesis (kuyedza mvura iri mudumbu)
• Kuongororwa kwechikamu che placenta che Chorionic Villus (kuongorora chikamu che placenta)

Kuti vaongorore maLSD muvana vachangoberekwa, kuongororwa kweropa kunogona kuitwa kuti vaone kana maenzymes asina simba. Dzimwe nguva, donhwe diki reropa (mavara eropa akaomeswa) rinotorwa kubva pamunwe, roparadzirwa papepa rakakosha, rosiyiwa kuti riome, uye rozoongororwa maenzymes.

Kana muchifungidzira kuti imi kana mwana wenyu mune LSD, munogona kutumirwa kuna chiremba we endocrinologist kana chiremba we endocrinologist wevana . Kune vana nevakuru, chiremba anogona kukurudzira bvunzo dzakadai se:

• Kuongororwa kweropa: Tarisa huwandu hwema enzymes.
• Kuongororwa kwemajini: Tarisa kana paine shanduko mumajini ako.
• Bhanya biopsy: Tora ganda diki wotarisa kana paine shanduko mumajini.
• Kuongororwa kweweti / kuongororwa kweweti: Kuyera huwandu hwezvinhu zvinoshandiswa nema enzymes.

Pamusoro peizvi, mimwe miedzo inogona kuitwa kuti ione kana nhengo dzako dzakakuvara. Semuenzaniso:

• Kuwanda Kweropa Rakazara
• Kuongororwa kweziso
• Kuongororwa kwekunzwa
• Kuongororwa kwemoyo: senge echocardiogram uye electrocardiogram (EKG) .
• Kuongororwa kwebasa reitsvo
• Kuongororwa kwebasa rechiropa
• Kuongororwa kweMRI (MRI)
• X-rays

Miedzo iyi inoshandiswa kuona kuti chirwere ichi chii chaizvo uye kuti chakakomba zvakadii.

Zvirwere zveLysosomal storage diseases (LSDs) zvinorapwa sei?

Zvirwere zveLysosomal storage diseases (LSDs) zvinowanzo shandiswa muzvipatara zvine hunyanzvi. Hapana mushonga wezvirwere izvi. Zvisinei, kune mishonga inogona kubatsira kudzora zviratidzo uye kuderedza kukuvara kwenhengo dzemuviri. Izvi zvinosanganisira:

• Kurapa Kutsiva MaEnzyme (ERT): Izvi zvinosanganisira kupa muviri enzyme yakagadzirwa nemajini.
• Kuisirwa Masero Emuviri:Masero emuviri, angave anobva kune vanopa kana kubva kuropa rerukuvhute, anosiiwa. Masero aya anogona kubatsira kugadzira enzyme isipo. Anobatsirawo kuderedza kuzvimba uye kukuvara kwenyama.
• Kurapa Kuderedza Substrate (SRT): Izvi zvinosanganisira kupa mishonga inoderedza huwandu hwezvinhu (substrate) zvinoungana mukati memasero. Semuenzaniso, Miglustat inoshandiswa pakurapa Gaucher Disease. Mamwe maSRT ari mukuyedzwa kwekiriniki parizvino.

Vatsvakurudzi vachiri kutsvaga mishonga mitsva yeLSD. Mimwe yacho inosanganisira:

• Kurapa Majini: Izvi zvichiri muchikamu chekutsvagisa. Zvinosanganisira kutsiva majini akakuvara neane hutano.
• Kurapa Nemushonga Wekurapa Nemushonga (PCT): Mukuita izvi, mamorekuru madiki anosungana nema enzyme akakuvara uye anovandudza mashandiro e lysosomes.

Kuwedzera kune mishonga iyi chaiyo, mamwe marapirwo anoshandiswa kudzora zviratidzo. Semuenzaniso:

• Mishonga inodzvinyirira muviri
• Mishonga Isingarwisi Kuzvimba (NSAIDs)
• Zvishongedzo zvemapfupa
• Mimwe mishonga zvichienderana nezviratidzo uye nhengo dzakabatwa nayo
• Kurapa muviri
• Kurapa kwekutaura
• Dzimwe nguva kuvhiyiwa

Njodzi yekubatwa nezvirwere zve lysosomal storage diseases (LSDs) inogona kuderedzwa here?

Hapana chatingaita kuderedza njodzi yekubatwa nezvirwere zve lysosomal storage diseases (LSDs) nekuti zvinokonzerwa nemagene factors. Zvisinei, kutanga kurapwa iwe kana mwana wako paunoonekwa uine chirwere ichi kunogona kuvandudza hupenyu hwako zvakanyanya.

Munhu ane LSD anogona kutarisira remangwana rerudzii?

Ramangwana remunhu ane LSD rinoenderana nezvinhu zvakati wandei:

• Kukurumidza kwakawanikwa chirwere ichi.
• Uchawana kurapwa kwerudzii?
• Ingori nyaya yekuti imhando yeLSD.
• Kana LSDs inogona kuenda kunzvimbo dzine zvipatara zvine hunyanzvi.

Kazhinji, munhu ane chirwere cheLSD chakakomba anogona kurarama kwenguva pfupi. Zvisinei, kana paine chirwere cheLSD chisina kunyanya kuoma, kana kurapwa kukatanga nhengo dzisati dzakuvara, anogona kurarama kwenguva yakareba.

Ndingazvitarisira sei ini nemwana wangu ndichirarama neLSD?

Kana iwe kana mwana wako aine chirwere che lysosomal storage disease (LSD), chinogona kuva dambudziko guru repfungwa. Saka, zvakakosha kutsvaga rubatsiro kubva kune nyanzvi yepfungwa. Vanogona kukudzidzisa nzira dzekukubatsira kurarama nechirwere ichi mupfungwa.

Zvakare, zvakanaka kubatana nemapoka ekutsigirana. Nenzira iyi unogona kusangana nevamwe vanhu vari kusangana nematambudziko akafanana uye kugovana zvavakasangana nazvo.

Ndinofanira kuona chiremba rini?

Kana zviratidzo zvako zviri kuramba zvichiwedzera, kana kuti usingaone mhedzisiro kubva mukurapwa kwako mushure mechinguva, iva nechokwadi chekuona chiremba wako. Anogona kukupa mamwe marapirwo angakubatsira.

Mharidzo Yekupedzisira Yekuenda Kumba

Zvirwere zveLysosomal Storage, kana kuti LSDs, iboka rezvirwere zvisingawanzoitiki, zvemajini zvinokonzerwa nekuunganidzwa kwezvinhu zvine chepfu mumasero emuviri wedu. Chepfu idzi dzinogona kukuvadza masero nenhengo dzakasiyana-siyana.

Mhando dzeLSD dzinopfuura makumi manomwe dzakaonekwa. Dzinokonzerwa nekuchinja kwemajini. Kunyange zvazvo zviratidzo zvichisiyana zvichienderana nerudzi rweLSD, zviratidzo zvinowanzoonekwa zvinosanganisira nhengo dzemudumbu dzakakura, zviso zvakakora, uye kunonoka kukura.

LSDs dzinogona kuonekwa panguva yekuzvitakura, muvacheche, kana muvana nevakuru kuburikidza nekuongororwa kweropa, kuongororwa kwemajini, biopsies, uye bvunzo dzeweti.

Kunyangwe zvirwere izvi zvisingarapike zvachose, kune mishonga inogona kubatsira kudzora zviratidzo uye kuvandudza mararamiro emunhu. Saka, zvakakosha zvikuru kuongorora chirwere ichi nekukurumidza uye kutsvaga kurapwa kwakakodzera. Kana uine mimwe mibvunzo nezveizvi, usazeza kubvunza chiremba wako, zvakanaka here?

` Zvirwere zveLysosomal Storage, LSDs, Zvirwere zveGenetic, MaEnzymes, Zvirwere zveMetabolic, Zvirwere Zvisingawanzoitiki, Hutano hweVana