Ingabe ubuthi buqongelela ngaphakathi kwamaseli akho? Lokhu kumayelana nezifo zokugcina ze-Lysosomal!

Wake wezwa nge-Lysosomal Storage Diseases, noma ama-LSD? Lezi azivamile, okusho ukuthi abantu abaningi abazitholi, izimo zofuzo. Kalula nje, lezi zifo zibangela izinto ezingafuneki, ezingaba yingozi ukuba ziqoqeke ngaphakathi kwamaseli emizimba yethu. Ake sixoxe ngalokhu ngemininingwane ethe xaxa namuhla, akunjalo?

Ayini ama-enzyme nama-lysosome? Asebenza kanjani?

Cabanga ukuthi yonke iseli emzimbeni wakho ifana nefektri encane. Ngaphakathi kwalezi zimboni, kunomnyango okhethekile obizwa ngokuthi 'i-Lysosome'. Lawa ma-lysosome asebenza njengomhlanzi endlini yethu. Ukuze abasize benze lo msebenzi kahle, banezisebenzi ezikhethekile ezibizwa ngokuthi 'ama-Enzymes'. Lawa ma-enzyme ayizinto ezahlukahlukene ezifika emaseli ethu, isibonelo:

• Ama-carbohydrate (izinto ezifana ne-fiber, isitashi, noshukela)
• Ama-lipid (izinhlobo zamafutha)
• Amaprotheni
• Izingxenye zeseli ezindala, ezingenamsebenzi

Zisiza ekuqhekekeni, ekuqhekekeni, nasekugayeni izinto ezinjalo. Sibiza le nqubo ngokuthi i-metabolism . Ngakho-ke, la ma-enzyme nama-lysosome asebenza ndawonye ukugcina amangqamuzana ethu ehlanzekile futhi enempilo.

Ngakho-ke kwenzekani ezifweni zokugcina i-lysosomal (LSDs)?

Manje cabanga ngesisebenzi esikhethekile emnyangweni wokuhlanza waleyo fektri okukhulunywe ngayo ngaphambili, kwenzekani uma i-enzyme ethile ingasebenzi kahle, noma uma leyo enzyme ingekho nhlobo? Yilapho inkinga iqala khona.

Yilokho okwenzeka emzimbeni womuntu onesifo sokugcina i-lysosomal (LSD). Abanayo i-enzyme ethile, noma okunye okusiza ukuthi leyo enzyme isebenze (i-enzyme activator noma i-modifier). Bese, lawo ma-lysosome awakwazi ukuphula kahle izinto ezifana namafutha noshukela okudingeka aphule.

Ngakho-ke kwenzekani? Lezi zinto ezingenakuphuka ziqala ukuqongelela ngaphakathi kwamaseli. Kufana nenqwaba kadoti. Ngokuhamba kwesikhathi, lezi zinto ziba yingozi futhi zilimaze amaseli. Lo monakalo ungasakazeka futhi uthinte izitho ezahlukahlukene emzimbeni wethu. Isibonelo:

• Ubuchopho
• Isistimu Yezinzwa Ephakathi
• Inhliziyo
• Uhlelo Lwamathambo
• Isikhumba

Yilokhu okwenzekayo kwisifo sokugcina i-lysosomal (LSD), uma sikubeka kalula.

Ingabe zikhona izinhlobo zezifo zokugcina i-lysosomal (LSDs)?

Yebo, kuze kube manje, abacwaningi sebethole izinhlobo ezingaphezu kuka-50 zezifo zokugcina i-lysosomal (LSDs). Izinhlobo ezintsha zisatholakala. Kuyinkimbinkimbi kakhulu, akunjalo?

Ngokuvamile, lezi zifo zingahlukaniswa zibe izinhlobo ezintathu eziyinhloko kuye ngokuthi i-enzyme ayisebenzi kahle yini.

Ama-lipidoses

Lolu hlobo lwesifo lwenzeka lapho umzimba untula i-enzyme edingekayo ukuphula amafutha. Ezinye izibonelo yilezi:

• Isifo Sokugcina I-Cholesteryl Ester
• Isifo sikaWolman

Ama-Mucopolysaccharidoses

Lokhu kwenzeka lapho i-enzyme edingekayo ukuphula i-glycosaminoglycans, uhlobo lwe-molecule kashukela eyinkimbinkimbi, ingekho. Izibonelo zifaka:

• Isifo Sokuzingela
• Isifo SikaHurler

Ama-Sphingolipidoses

Lolu hlobo lwenzeka lapho kungekho khona i-enzyme ephula uhlobo oluthile lwamafutha olubizwa ngokuthi ama-sphingolipids . Lawa ma-sphingolipid ayizinto ezenza imisebenzi ekhethekile, njengokuvikela ubuso bamaseli ethu. Ezinye izifo eziwela kulesi sigaba yilezi:

• Isifo sikaFabry
• Isifo seGaucher
• Isifo sikaKrabbe / i-Globoid Cell Leukodystrophy
• I-Leukodystrophy ye-Metachromatic
• Isifo sikaNiemann-Pick (NP)
• Isifo seSandhoff
• Isifo sikaTay-Sachs

Ezinye izinhlobo ze-LSD

Ngaphezu kwalezi zigaba eziyinhloko, kunezinye izinhlobo zama-LSD. Isibonelo:

• Isifo se-Batten
• I-Cystinosis
• Isifo saseDanon
• Isifo sikaPompe

Uyabona, zonke lezi zifo zibangelwa ukuntuleka kwe-enzyme ethile. Lesi sifo nemiphumela yaso kuyahlukahluka kuye ngokuthi i-enzyme ayisebenzi kahle.

Ubani ongathuthukisa lezi zifo zokugcina i-lysosomal (LSDs)? Zivame kangakanani?

Eqinisweni, noma ubani angaba nesifo sokugcina i-lysosomal (LSD). Kodwa-ke, amanye amaqembu ezinhlanga nezifunda anamathuba amaningi okuba nalesi sifo. Isibonelo, ezinye izinhlobo zama-LSD zivame kakhulu phakathi kwamaJuda eMpumalanga Yurophu kanye nabantu baseFinland.

Lezi zifo zivamile kangangokuthi cishe umuntu oyedwa kuphela kubantu abangu-40,000 kuya ku-60,000 one-LSD. Lokhu kusho ukuthi lezi yiqembu lezifo elingavamile kakhulu. Yingakho abantu abaningi bengakaze bezwe ngazo.

Yini ebangela izifo zokugcina i-lysosomal (LSDs)?

Izifo zokugcina i-Lysosomal (ama-LSD) ziyizifo ze-metabolic ezizuzwe njengefa ezikhona kusukela ekuzalweni futhi ezibangelwa izici zofuzo . Ukuze kube sobala, eziningi zalezi zidluliselwa ezizukulwaneni ngezizukulwane njenge- 'Autosomal Recessive Disorders' .

Manje cishe uyazibuza ukuthi kusho ukuthini ukuthi 'ukuhlehlisa okuzenzakalelayo'. Kalula nje, kunje:

Ngokuvamile, sithola ikhophi eyodwa yezakhi zofuzo ngasinye kumzali ngamunye. Ukuze sakhe i-LSD,Ingane kumele ithole ikhophi yesakhi sofuzo esiguquliwe sesifo kumama nakubaba. Into ebalulekile ukuthi laba bazali bangabathwali besakhi sofuzo esiguquliwe. Lokhu kusho ukuthi abanayo i-LSD, kodwa banayo isakhi sofuzo esingadala lesi sifo.

Ngakho-ke, uma bobabili abazali benazo lezi zinkinga, nansi amathuba okuba nomntwana:

• Kukhona ithuba elingama-25% (1 kwangu-4) lokuthi ingane izoba nempilo enhle ngaphandle kokuthola noma yiziphi izakhi zofuzo ezishintshiwe.
• Kukhona ithuba elingama-25% (1 kwangu-4) lokuthi ingane izokuba ne-LSD (uma izuza ifa lofuzo olushintshiwe kubazali bobabili).
• Kukhona ithuba elingu-50% (1 kwababili) lokuthi ingane izoba nomthwali ongenazimpawu, njengabazali (uma izuza ifa lofuzo olushintshiwe kumzali oyedwa kuphela).

Uyaqonda? Lokhu kungase kubonakale kuyinkimbinkimbi kancane, kodwa yileyo ndlela izifo zofuzo ezisakazeka ngayo.

Kunezinhlobo ezithile zama-LSD ezibizwa ngokuthi i-X-linked Inheritance . Lokhu kusho ukuthi i-gene yesifo iku-X chromosome, ngakho-ke ingane (ikakhulukazi ingane yesilisa) ingazuza lesi sifo kunina kuphela. I-Danon Disease, i-Fabry Disease, kanye ne-Hunter Syndrome yizifo ezintathu ezinjalo.

Ngaphezu kwalezi zimbangela zofuzo, ngezinye izikhathi izici ezilandelayo zingaba nomthelela ekwandeni noma ekuthuthukisweni kwama-LSD:

• Ukuvuvukala emzimbeni.
• Ukucindezeleka kwe-oxidative ukuxhumana phakathi komzimba nama -free radicals , okuyimikhiqizo ye-metabolism.

Ama-LSD avame ukuvela ngesikhathi sokukhulelwa noma ngemva nje kokuzalwa. Kodwa-ke, akuvamile kakhulu, angaqala nakubantu abadala. Ama-LSD aqala ebuntwaneni avame ukuba mandundu kakhulu, kanti lawo aqala kamuva ekuphileni angase abe mandundu kancane.

Ziyini izimpawu zezifo zokugcina i-lysosomal (LSDs)?

Izimpawu zalezi zifo zingahluka kakhulu. Kuya ngokuthi:

• Kuye ngokuthi yimaphi amaseli noma izitho zomzimba ezithintwa yi-LSD.
• Kuya ngokuthi hlobo luni lwe-LSD.

Kodwa-ke, kunezimpawu ezimbalwa ezivame kakhulu ezinhlotsheni eziningi ze-LSD. Lezi yilezi:

• Ukwanda okungavamile kwezitho esiswini, njengezinso, isibindi, i-pancreas, i-spleen, noma isisu (i-visceromegaly).
• Izinguquko zemisipha yamathambo.
• Izici zobuso ziba nzima kancane. Isibonelo, ibunzi eliphumayo, impumulo eyisicaba, nezindebe ezikhulisiwe .
• Ukubambezeleka kokukhula kwengane. Lokhu kunganda kancane kancane ngokuhamba kwesikhathi.

Uma ingane yakho inesinye noma ngaphezulu salezi zimpawu, kubaluleke kakhulu ukubona udokotela ngokushesha ukuze uthole iseluleko.

Izifo zokugcina i-lysosomal (LSDs) zitholakala kanjani?

Odokotela bangathola izifo zokugcina i-lysosomal (LSDs) ngesikhathi sokukhulelwa. Basebenzisa izivivinyo zokuhlolwa kokukhulelwa . Isibonelo:

• I-Amniocentesis (ukuhlola uketshezi esibelethweni)
• Ukuhlolwa kwe-Chorionic Villus Sampling (ukuhlolwa kwengxenye ye-placenta)

Ukuze kuhlolwe ama-LSD ezinsaneni ezisanda kuzalwa, kungenziwa ukuhlolwa kwegazi ukuze kubhekwe ama-enzyme aphansi. Ngezinye izikhathi, kuthathwa ithonsi elincane legazi (amabala egazi omisiwe) emunweni, lisakazwe ephepheni elikhethekile, lishiywe lome, bese lihlolwa ama-enzyme.

Uma usola ukuthi wena noma ingane yakho ninayo i-LSD, ungathunyelwa kudokotela we-endocrinologist noma kudokotela we-endocrinologist wezingane . Kubantwana nakubantu abadala, udokotela angancoma ukuhlolwa okufana nalokhu:

• Ukuhlolwa kwegazi: Hlola amazinga e-enzyme.
• Ukuhlolwa kwezakhi zofuzo: Hlola izinguquko ezakhiweni zakho zofuzo.
• I-biopsy Yokuhlikihla: Thatha ingxenye encane yesikhumba bese uhlola izinguquko zofuzo.
• Ukuhlolwa komchamo / ukuhlolwa komchamo: Linganisa inani lezinto ezisetshenziswa ama-enzyme ngokuvamile.

Ngaphezu kwalokhu, kungenziwa ezinye izivivinyo ukuze kubonakale ukuthi izitho zakho zomzimba zonakele yini. Isibonelo:

• Inani Eliphelele Legazi
• Ukuhlolwa kwamehlo
• Ukuhlolwa kokuzwa
• Ukuhlolwa kwenhliziyo: njenge -echocardiogram kanye ne-electrocardiogram (EKG) .
• Ukuhlolwa kokusebenza kwezinso
• Ukuhlolwa kokusebenza kwesibindi
• Ukuskena kwe-MRI (i-MRI)
• Ama-X-ray

Lezi zivivinyo zisetshenziselwa ukuthola ukuthi lesi sifo siyini nokuthi sibi kangakanani.

Ziphathwa kanjani izifo zokugcina i-lysosomal (LSDs)?

Izifo zokugcina i-Lysosomal (LSDs) zivame ukwelashwa ezikhungweni zezokwelapha ezikhethekile. Akukho ukwelashwa kwalezi zifo. Kodwa-ke, kunezindlela zokwelapha ezingasiza ekulawuleni izimpawu nokunciphisa ukulimala kwezitho zomzimba. Lokhu kufaka phakathi:

• Ukwelashwa Kokufaka I-Enzyme Replacement Therapy (ERT): Lokhu kuhilela ukunikeza umzimba i-enzyme eyakhiwe ngofuzo ngemithambo yegazi.
• Ukufakelwa Kwamaseli Esiqu:Amaseli e-stem, kungaba avela kubanikeli noma egazini le-umbilical cord, ayatshalwa. Lawa maseli angasiza ekukhiqizeni i-enzyme engekho. Aphinde asize ekunciphiseni ukuvuvukala kanye nokulimala kwezicubu.
• Ukwelashwa Kokunciphisa Ama-Substrate (SRT): Lokhu kuhilela ukunikeza imithi enciphisa inani lezinto (ama-substrate) eziqongelela ngaphakathi kwamaseli. Isibonelo, i-Miglustat isetshenziselwa i-Gaucher Disease. Amanye ama-SRT asezivivinyweni zemitholampilo okwamanje.

Abacwaningi basafuna izindlela ezintsha zokwelapha ama-LSD. Ezinye zazo zifaka:

• Ukwelashwa Ngezakhi Zofuzo: Lokhu kusesesigabeni socwaningo. Kuhilela ukufaka esikhundleni izakhi zofuzo ezonakele ngeziphilile.
• Ukwelashwa Nge-Pharmacological Chaperone (PCT): Kulokhu, ama-molecule amancane anamathela kuma-enzyme alimele futhi athuthukise ukusebenza kwama-lysosome.

Ngaphezu kwalezi zindlela zokwelapha ezithile, ezinye izindlela zokwelapha zisetshenziselwa ukulawula izimpawu. Isibonelo:

• Izithiyo zokucindezela amasosha omzimba
• Izidakamizwa Ezingavimbeli Ukuvuvukala (ama-NSAID)
• Ama-braces e-Orthopedic
• Eminye imithi kuye ngezimpawu kanye nezitho zomzimba ezithintekile
• Ukwelashwa ngokomzimba
• Ukwelashwa ngenkulumo
• Ngezinye izikhathi ukuhlinzwa

Ingabe ingozi yokuthola izifo zokugcina i-lysosomal (LSDs) ingancishiswa?

Akukho lutho esingakwenza ukunciphisa ingozi yokuthola izifo zokugcina i-lysosomal (LSDs) ngoba zibangelwa izici zofuzo. Kodwa-ke, ukuqala ukwelashwa ngokushesha nje lapho wena noma ingane yakho nitholakala ninesifo kungathuthukisa kakhulu ikhwalithi yempilo yenu.

Hlobo luni lwekusasa umuntu one-LSD angalulindela?

Ikusasa lomuntu one-LSD lincike ezintweni eziningana:

• Indlela lesi sifo esatholakala ngokushesha ngayo.
• Uhlobo luni lokwelashwa ozoluthola?
• Kumane nje kuyindaba yokuthi iluhlobo luni lwe-LSD.
• Ingabe ama-LSD angaya yini ezindaweni ezinezikhungo zezokwelapha ezikhethekile?

Ngokuvamile, umuntu onesimo esibi se-LSD angase abe nesikhathi sokuphila esifushane. Kodwa-ke, ezimweni ezingembi kangako ze-LSD, uma ukwelashwa kuqalwa ngaphambi kokuba kwenzeke umonakalo wezitho zomzimba, angase akwazi ukuphila isikhathi eside.

Ngingazinakekela kanjani mina kanye nengane yami ngenkathi ngiphila ne-LSD?

Uma wena noma ingane yakho ninesifo sokugcina i-lysosomal (LSD), kungaba yinselele enkulu engqondweni. Ngakho-ke, kubaluleke kakhulu ukufuna usizo kudokotela wengqondo. Bangakufundisa izindlela zokukusiza ubhekane nalesi simo ngokomzwelo.

Futhi, kuhle ukujoyina amaqembu okusekelana. Ngaleyo ndlela ungahlangana nabanye abantu ababhekene nezinselele ezifanayo futhi wabelane ngolwazi lwabo.

Kufanele ngimbone nini udokotela?

Uma izimpawu zakho ziba zimbi kakhulu, noma uma ungaboni miphumela yokwelashwa kwakho ngemva kwesikhathi esithile, qiniseka ukuthi ubona udokotela wakho. Angaphakamisa ezinye izindlela zokwelapha ezingakusiza.

Umyalezo Wokugcina Wokuya Nasekhaya

Izifo Zokugcina I-Lysosomal, noma ama-LSD, yiqembu lezifo ezingavamile, ezibangelwa izakhi zofuzo ezibangelwa ukuqongelela kwezinto ezinobuthi ngaphakathi kwamangqamuzana omzimba wethu. Lezi zinobuthi zingalimaza amangqamuzana nezitho ezahlukahlukene.

Kutholakale izinhlobo ezingaphezu kuka-70 zama-LSD. Zibangelwa ukuguquka kwezakhi zofuzo. Nakuba izimpawu ziyahlukahluka kuye ngohlobo lwe-LSD, izimpawu ezivamile zifaka phakathi izitho zesisu ezikhuphukile, izici zobuso eziqinile, kanye nokubambezeleka kokukhula.

Ama-LSD angatholakala ngesikhathi sokukhulelwa, ezinsaneni ezisanda kuzalwa, noma ezinganeni nakubantu abadala ngokuhlolwa kwegazi, ukuhlolwa kofuzo, ukuhlolwa kwe-biopsies, kanye nokuhlolwa komchamo.

Nakuba lezi zifo zingelapheki ngokuphelele, kunezindlela zokwelapha ezingasiza ekulawuleni izimpawu futhi zithuthukise ikhwalithi yokuphila. Ngakho-ke, kubaluleke kakhulu ukuxilonga lesi sifo kusenesikhathi futhi ufune ukwelashwa okufanele. Uma uneminye imibuzo mayelana nalokhu, ungangabazi ukubuza udokotela wakho, kulungile?

Izifo Zokugcina I - Lysosomal, Ama-LSD, Izifo Zofuzo, Ama-Enzyme, Izifo Ze-Metabolic, Izifo Ezingavamile, Impilo Yengane