Ese uburozi burimo kwirundanya mu turemangingo twawe? Ibi bivuga ku ndwara zo kubika za Lysosomal!

Wigeze wumva indwara zo kubika za Lysosomal, cyangwa LSD? Izi ni gake cyane, bivuze ko abantu benshi batazirwara, indwara ziterwa n'uturemangingo. Mu magambo make, izi ndwara zitera ibintu bidakenewe kandi bishobora kuba uburozi kwirundanya mu turemangingo tw'umubiri wacu. Reka tubiganireho birambuye uyu munsi, si byo se?

Enzymes na lysosomes ni iki? Bikora bite?

Tekereza ko buri karemangingo mu mubiri wawe kameze nk'uruganda ruto. Muri izi nganda, hari ishami ryihariye ryitwa 'Lysosome'. Izi lysosome zikora nk'isuku mu nzu yacu. Kugira ngo zibafashe gukora uyu murimo neza, bafite abakozi bihariye bitwa 'Enzymes'. Izi enzymes ni ibintu bitandukanye byinjira mu turemangingo twacu, urugero:

• Karubohidrati (ibintu nka fibre, sitashi, n'isukari)
• Lipide (ubwoko bw'ibinure)
• Poroteyine
• Ibice by'uturemangingo bishaje, bidafite akamaro

Bifasha mu gusenya, gusenya no gusya ibintu nk'ibyo. Iyi gahunda twita metabolism . Rero, izi enzymes na lysosomes bikorana kugira ngo uturemangingo twacu tugire isuku kandi tugire ubuzima bwiza.

None se ni iki kibaho mu ndwara zo kubika lysosomal (LSDs)?

Noneho tekereza umukozi wihariye mu ishami rishinzwe isuku ry'urwo ruganda twavuze mbere, bigenda bite iyo enzyme runaka idakora neza, cyangwa iyo enzyme idafite na gato? Ni bwo ikibazo gitangira.

Ibyo ni byo biba mu mubiri w'umuntu ufite indwara yo kubika lysosomal (LSD). Nta enzyme runaka ihari, cyangwa ikindi kintu gifasha iyo enzyme gukora (enzyme activator cyangwa modifier). Hanyuma, izo lysosome ntizishobora gusenya neza ibintu nk'ibinure n'isukari bakeneye gusenya.

None se bigenda bite? Ibi bintu bidacika bitangira kwirundanya mu turemangingo. Bimeze nk'umurundo w'imyanda. Uko igihe kigenda gihita, ibi bintu biba uburozi bikangiza uturemangingo. Uku kwangirika gushobora gukwirakwira no kugira ingaruka ku ngingo zitandukanye z'umubiri wacu. Urugero:

• Ubwonko
• Uturemangingo tw'imitsi two hagati
• Umutima
• Sisitemu y'amagufwa
• Uruhu

Ibi nibyo bibaho mu ndwara yo kubika lysosomal (LSD), mu buryo bworoshye.

Ese hari ubwoko bw'indwara zo kubika lysosomal (LSDs)?

Yego, kugeza ubu, abashakashatsi bamaze kubona ubwoko burenga 50 bw'indwara zo kubika lysosomal (LSD). Ubwoko bushya buracyavumburwa. Biragoye cyane, si byo se?

Muri rusange, izi ndwara zishobora kugabanywamo ubwoko butatu bw'ingenzi bitewe n'umusemburo udafite akamaro.

Lipidoze

Ubu bwoko bw'indwara bubaho iyo umubiri ubuze enzyme ikenewe kugira ngo usenye ibinure. Ingero zimwe ni izi:

• Indwara yo kubika Kolesteroli Ester
• Indwara ya Wolman

Mucopolysaccharidoses

Ibi bibaho iyo enzyme ikenewe mu gusenya glycosaminoglycans, ubwoko bw'isukari ikomeye, ibuze. Ingero zirimo:

• Indwara y'umuhigi
• Indwara ya Hurler

Sphingolipidoses

Ubu bwoko bubaho iyo habayeho kubura enzyme isenya ubwoko bwihariye bw'ibinure yitwa sphingolipides . Izi sphingolipides ni ibintu bikora imirimo idasanzwe, nko kurinda ubuso bw'uturemangingo twacu. Zimwe mu ndwara ziri muri iki cyiciro ni izi:

• Indwara ya Fabry
• Indwara ya Gaucher
• Indwara ya Krabbe / Leukodystrophy y'ingirabuzima fatizo za Globoid
• Leukodystrophy ikoresha uburyo bwa metachromatic
• Indwara ya Niemann-Pick (NP)
• Indwara ya Sandhoff
• Indwara ya Tay-Sachs

Ubundi bwoko bwa LSD

Uretse ibi byiciro by'ingenzi, hari n'ubundi bwoko bwa LSD. Urugero:

• Indwara ya Batten
• Cystinosis
• Indwara ya Danon
• Indwara ya Pompe

Urabona, izi ndwara zose ziterwa no kubura kwa enzyme runaka. Indwara n'ingaruka zayo biratandukanye bitewe na enzyme idafite akamaro.

Ni nde ushobora kurwara izi ndwara zo kubika lysosomal (LSD)? Zikunze kugaragara gute?

Mu by’ukuri, umuntu wese ashobora kurwara indwara yo kubika lysosomal (LSD). Ariko, amwe mu moko n’uturere bimwe na bimwe ni byo bishobora kurwara iyi ndwara. Urugero, ubwoko bumwe bwa LSD bukunze kugaragara cyane mu Bayahudi bo mu Burayi bw’Iburasirazuba n’abaturage bo muri Finlande.

Izi ndwara zirakunze kugaragara ku buryo umuntu umwe gusa mu bantu 40.000 kugeza ku 60.000 ari we ufite LSD. Ibi bivuze ko izi ari indwara zidasanzwe . Niyo mpamvu abantu benshi batarabyumva.

Ni iki gitera indwara zo kubika lysosomal (LSDs)?

Indwara zo kubika Lysosomal (LSDs) ni indwara z’imikorere y’umubiri zivukana kuva umuntu avutse kandi ziterwa n’ibintu bigize imiterere y’umubiri . Mu by’ukuri, inyinshi muri zo zihererekanywa kuva ku gisekuru kugeza ku kindi nka ' Autosomal Recessive Disorders' .

Noneho ushobora kuba wibaza icyo 'auto-retard' bivuze. Mu magambo make, ni uku:

Ubusanzwe, duhabwa kopi imwe ya buri gene kuri buri mubyeyi. Kugira ngo tugire LSD,Umwana agomba kuragwa kopi y’ingirabuzimafatizo yanduye indwara iva kuri nyina na se. Icy'ingenzi ni uko aba babyeyi ari bo batwara gusa ingirabuzimafatizo yanduye. Ibi bivuze ko badafite LSD, ariko bafite ingirabuzimafatizo ishobora gutera iyo ndwara.

Niba ababyeyi bombi ari bo banduye iyi ndwara, dore amahirwe yo kubyara umwana:

• Hari amahirwe angana na 25% (1 kuri 4) ko umwana azaba afite ubuzima bwiza adahawe uturemangingo twahinduwe.
• Hari amahirwe angana na 25% (1 kuri 4) ko umwana azarwara LSD (niba azunguye gene yahinduwe n'ababyeyi bombi).
• Hari amahirwe angana na 50% (1 kuri 2) ko umwana azaba afite ibimenyetso by'uburwayi, kimwe n'ababyeyi (niba barazwe gene yahindutse iturutse ku mubyeyi umwe gusa).

Urabyumva? Ibi bishobora gusa nkaho bigoye gato, ariko uko ni ko indwara ziterwa n'uturemangingo zikwirakwira.

Hari ubwoko bumwe na bumwe bwa LSD bwitwa X-linked Inheritance . Ibi bivuze ko gene y'iyi ndwara iri kuri chromosome ya X, bityo umwana (cyane cyane umwana w'umuhungu) ashobora kuragwa iyi ndwara na nyina wenyine. Indwara ya Danon, Indwara ya Fabry, na Hunter Syndrome ni indwara eshatu nk'izo.

Uretse izi mpamvu zikomoka ku ngirabuzimafatizo, hari igihe ibintu bikurikira bishobora no gutuma LSD irushaho kwiyongera cyangwa ikura:

• Kubyimba mu mubiri.
• Umuvuduko wa oxidative ni imikoranire iri hagati y'umubiri n'ibintu bitera ubwihindurize , ari nabyo biva mu mikorere y'umubiri.

Ibinini bya LSD bikunze kugaragara mu gihe cyo gutwita cyangwa nyuma gato yo kuvuka. Ariko, ni gake cyane, bishobora no gutangirira ku bantu bakuru. Ibinini bya LSD bitangira mu bwana akenshi biba bikomeye cyane, mu gihe ibitangira mu bwana bishobora kuba bike cyane.

Ni ibihe bimenyetso by'indwara zo kubika lysosomal (LSD)?

Ibimenyetso by'izi ndwara bishobora gutandukana cyane. Biterwa na:

• Bitewe n'uturemangingo cyangwa ingingo zigizweho ingaruka na LSD.
• Biterwa n'ubwoko bwa LSD.

Ariko, hari ibimenyetso bike bikunze kugaragara ku bwoko bwinshi bwa LSD. Ibi ni ibi bikurikira:

• Kwaguka kudasanzwe kw'ingingo zo mu nda, nk'impyiko, umwijima, pancreas, urwagashya, cyangwa igifu (visceromegaly).
• Impinduka mu mitsi y'amagufwa.
• Isura ihinduka nk'iy'uruhanga rugaragara, izuru rirambuye, n'iminwa yagutse .
• Gutinda mu mikurire y'umwana. Ibi bishobora kwiyongera uko igihe kigenda gihita.

Niba umwana wawe afite kimwe cyangwa byinshi muri ibi bimenyetso, ni ngombwa cyane kujya kwa muganga vuba kugira ngo amugire inama.

Ni gute indwara zo kubika lysosomal (LSDs) zipimwa?

Abaganga bashobora kubona indwara zo kubika lysosomal (LSDs) mu gihe cyo gutwita. Bakoresha ibizamini byo gupima mbere yo kubyara . Urugero:

• Amniocentesis (gupima amazi ari mu nda)
• Gupima Viliyoni (gusuzuma igice cy'ingobyi)

Kugira ngo hamenyekane LSD mu bana bavutse, hashobora gupimwa amaraso kugira ngo hamenyekane niba hari enzyme nkeya. Hari igihe hafatwa agatonyanga gato k'amaraso (uduheri tw'amaraso twumye) mu rutoki, tugashyirwa ku rupapuro rwabugenewe, tugasigara twumye, hanyuma tugasuzuma niba hari enzymes.

Niba ukeka ko wowe cyangwa umwana wawe mufite LSD, mushobora koherezwa kwa muganga w’indwara z’imitsi cyangwa umwana . Ku bana no ku bakuru, muganga ashobora kukugira inama yo gupima ibipimo nka:

• Gupima amaraso: Kureba urugero rwa enzyme.
• Gupima imiterere y'uturemangingo: Reba niba hari impinduka mu turemangingo twawe.
• Gufata agace gato k'uruhu urebe niba nta mpinduka mu ngirabuzimafatizo.
• Gupima inkari / isesengura ry'inkari: Pima ingano y'udusimba dusanzwe dukoreshwa na enzymes.

Uretse ibi, hari n'ibindi bizamini bishobora gukorwa kugira ngo harebwe niba ingingo zawe zangiritse. Urugero:

• Umubare w'amaraso wose
• Isuzuma ry'amaso
• Ikizamini cyo kumva
• Ibipimo by'umutima: nka echocardiogram na electrocardiogram (EKG) .
• Ibipimo by'imikorere y'impyiko
• Ibizamini by'imikorere y'umwijima
• Gupima MRI (MRI)
• Imirasire ya X

Ibi bizamini bikoreshwa kugira ngo hamenyekane neza indwara n'ubukana bwayo.

Indwara zo kubika lysosomal (LSD) zivurwa zite?

Indwara zo kubika za Lysosomal (LSD) zikunze kuvurirwa mu bigo by’ubuvuzi byihariye. Nta muti uhari wo kuzivura. Ariko, hari uburyo bwo kuvura bushobora gufasha mu kugenzura ibimenyetso no kugabanya kwangirika kw'ingingo. Muri ubwo buryo harimo:

• Ubuvuzi bwo Gusimbuza Enzyme (ERT): Ibi bikubiyemo gutanga enzyme yahinduwe mu buryo bwa genetiki mu mubiri mu buryo bwo kuyishyira mu mitsi.
• Gutera uturemangingo tw’umugongo:Uturemangingo tw’inyuma, twaba duturutse ku batanga cyangwa amaraso y’inkondo y’umura, turaterwa. Utwo turemangingo dushobora gufasha gukora enzyme ibura. Binafasha kugabanya ububyimbirwe no kwangirika kw’ingingo.
• Ubuvuzi bwo Kugabanya Ibice by'Ingirabuzimafatizo (SRT): Ibi bikubiyemo gutanga imiti igabanya ingano y'ibintu (ibice by'Ingirabuzimafatizo) byirundanya mu turemangingo. Urugero, Miglustat ikoreshwa mu kuvura indwara ya Gaucher. Izindi SRT ziri mu igeragezwa ry'ubuvuzi.

Abashakashatsi baracyashaka uburyo bushya bwo kuvura LSD. Bumwe muri bwo burimo:

• Ubuvuzi bw'uturemangingo: Ubu buracyari mu cyiciro cy'ubushakashatsi. Bukubiyemo gusimbuza uturemangingo twangiritse n'utuzima.
• Ubuvuzi bw'abashinzwe ubuvuzi bw'imiti (PCT): Muri ibi, molekile nto zifatanya na enzymes zangiritse kandi zigatuma lysosomes zikora neza.

Uretse ubu buryo bwihariye bwo kuvura, hari ubundi buryo bwo kuvura bukoreshwa mu kugenzura ibimenyetso. Urugero:

• Imiti igabanya ubudahangarwa bw'umubiri
• Imiti igabanya ubushyuhe idafite steroide (NSAIDs)
• Ibikoresho byo gukingira amagufwa
• Indi miti iterwa n'ibimenyetso n'ingingo zagize ikibazo
• Ubuvuzi bw'umubiri
• Ubuvuzi bw'imivugire
• Rimwe na rimwe kubagwa

Ese ibyago byo kurwara indwara zo kubika lysosomal (LSD) bishobora kugabanuka?

Nta kintu na kimwe twakora kugira ngo tugabanye ibyago byo kurwara indwara zo mu bwoko bwa lysosomal storage diseases (LSDs) kuko ziterwa n’ibintu bigize genetiki. Ariko, gutangira kuvurwa ukimara gusanga umwana wawe afite iyi ndwara bishobora gutuma ubuzima bwawe burushaho kuba bwiza.

Ni ubuhe buryo bw'ejo hazaza umuntu urwaye LSD yiteze?

Ahazaza h'umuntu urwaye LSD haterwa n'ibintu byinshi:

• Uburyo iyi ndwara yagaragaye vuba.
• Ni ubuhe bwoko bw'ubuvuzi uzahabwa?
• Ni ikibazo gusa ku bwoko bwa LSD.
• Niba LSD zishobora kujya ahantu hafite ibitaro byihariye.

Muri rusange, umuntu ufite LSD ikomeye ashobora kugira igihe cyo kubaho gito. Ariko, mu ndwara za LSD zitari zikomeye cyane, iyo hatangiye kuvurwa mbere yuko ingingo z'umubiri zangirika, ashobora kubaho igihe kirekire.

Ni gute nakwitaho njye n'umwana wanjye mu gihe mbana na LSD?

Niba wowe cyangwa umwana wawe mufite indwara yo kubika lysosomal (LSD), bishobora kuba ikibazo gikomeye cyo mu mutwe. Kubwibyo, ni ngombwa cyane gushaka ubufasha ku muhanga mu by'imitekerereze. Bashobora kukwigisha uburyo bwo kugufasha guhangana n'iyo ndwara mu buryo bw'amarangamutima.

Nanone, ni byiza kujya mu matsinda yo gushyigikirana. Muri ubwo buryo ushobora guhura n'abandi bantu bahura n'ibibazo nk'ibyo no gusangira ubunararibonye bwabo.

Ni ryari ngomba kujya kwa muganga?

Niba ibimenyetso byawe birushaho kwiyongera, cyangwa niba nta musaruro ubona mu miti yawe nyuma y'igihe runaka, menya neza ko wagiye kwa muganga wawe. Ashobora kukugira inama y'ubundi buryo bwo kuvura bushobora kugufasha.

Ubutumwa bwa nyuma bwo kujyana mu rugo

Indwara zo kubika Lysosomal, cyangwa LSD, ni itsinda ry'indwara zidasanzwe, zikomoka ku miterere y'umubiri ziterwa no kwirundanya kw'ibintu byangiza mu turemangingo tw'umubiri wacu. Ubu burozi bushobora kwangiza uturemangingo n'ingingo zitandukanye.

Ubwoko burenga 70 bwa LSD bwaragaragaye. Buterwa n'impinduka mu ngirabuzimafatizo. Nubwo ibimenyetso bitandukanye bitewe n'ubwoko bwa LSD, ibimenyetso bisanzwe birimo kwaguka kw'ingingo zo mu nda, imiterere yo mu maso ikabije, no gutinda gukura.

LSD zishobora kumenyekana mu gihe cyo gutwita, mu bana bavutse, cyangwa mu bana n'abantu bakuru binyuze mu gupima amaraso, ibizamini by'uturemangingo, gusuzuma indwara za kanseri, no gupima inkari.

Nubwo izi ndwara zidashobora gukira burundu, hari uburyo bwo kuvura bushobora gufasha kugenzura ibimenyetso no kunoza ubuzima. Kubwibyo, ni ngombwa cyane gusuzuma indwara hakiri kare no gushaka ubuvuzi bukwiye. Niba ufite ibindi bibazo kuri ibi, ntutindiganye kubaza muganga wawe, sibyo?

Indwara zo kubika Lysosomal , LSD, Indwara z'uturemangingo, Enzymes, Indwara za Metabolic, Indwara zidasanzwe, Ubuzima bw'Umwana