I-Mucopolysaccharidosis I (MPS-1) - I-Yered Hideitary ye-Molecular Storage Storage
Uma ufunde ukuthi ingane yakho noma ingane yomuntu othandekayo une-Hurler syndrome, mhlawumbe udidekile futhi wesaba. Kusho ukuthini lokhu?
Incazelo
I-Hurler syndrome iyinhlobo yesifo sokugcina emzimbeni obangelwa ukuntuleka kwe-enzyme eyodwa. I-enzyme engavamile, i-alpha -L-iduronidase (IDUA) ibangelwa ukuguqulwa kwezakhi zofuzo ku-gene u-IDUA, isakhi esifakwe ku-chromosome 4.
Isimo sihluka ngobukhulu, kodwa isimo esiqhubekayo esithinta izinhlelo eziningi zomzimba.
Ukuqonda iMucopolysaccharidoses (MPS)
I-Mucopolysaccaridoses (i-MPS) iqoqo lezinkinga eziphathelene nezofuzo lapho ama-enzyme ebalulekile emzimbeni (amakhemikhali) engekho noma abe khona ngamanani anganele. I-MPS Isifo sami sibangelwa ukungabi khona kwe-enzyme ethiwa i-alpha-L-iduronidase (IUDA).
I-enzyme i-alpha-L-iduronidase idiliza amaketanga amade ama-molecule eshukela ukuze umzimba ukwazi ukuwachitha. Ngaphandle kwe-enzyme, ama-molecule amakhulu ashukela akhuphuka futhi awonakele kancane kancane izingxenye zomzimba.
Ukwakhiwa kwama-molecule (glycosaminoglycans noma ama-GAG) kwenzeke kuma-lysosomes (i-organelle ekhethekile emangqamuzaneni aphethe izinhlobo eziningi ze-enzyme). Ama-GAG wangempela akhayo kuma-lysosomes ahluke kuhlobo oluhlukile lwesifo se-MPS.
I-Hurler Syndrome noma i-Hurler Disease yiyona nkulumo yomlando yenguqulo enzima kakhulu ye-MPS.
U-Hurler wayeyigama lokugcina lodokotela owaqala ukuchaza isimo.
Ingane izobonisa izimpawu ezimbalwa zesifo ngesikhathi sokuzalwa kodwa zingakapheli izinyanga ezimbalwa (uma ama-molecule eqala ukwakha emaseli) izimpawu ziyaqala. I-Bone deformities ingatholakala. Inhliziyo nesimiso sokuphefumula siyathinteka, njengamanye amalungu angaphakathi ahlanganisa nobuchopho.
Ingane ikhula kodwa ihlala ngemuva kokubili ukuthuthukiswa ngokomzimba nangokwengqondo yesikhathi sakhe.
Ingane ingase ibe nenkinga yokukhahla nokuhamba, futhi izinkinga ngamalungu akhe zikhula, ezibangela izingxenye zomzimba njengezandla zakhe ukuba zingakwazi ukuqondisa. Izingane ezine-Hurler syndrome zivame ukungena ezinkingeni ezifana nokuhluleka kwenhliziyo noma i-pneumonia.
Ukuxilongwa
Ukuxilongwa kwe-Hurler syndrome kusekelwe ezimpawu zomzimba zomntwana. Ngokuvamile, izimpawu ze-MPS ezinzima ngizoba khona ngonyaka wokuqala wokuphila, kuyilapho izimpawu ze-MPS ezithintekayo zivela ebuntwaneni. Ukuhlolwa kungase kuthole umsebenzi we-enzyme owehla. Kungase kwenzeke futhi ukuthi kutholakale lesi sifo ekuvivinyweni kwezakhi zofuzo
Ukuhlola
Ukuhlolwa kwangaphambi kokubeletha kwe-MPS Ngingxenye yeKhansela Elibukwayo Lokuhlola Elimisiwe elenziwe ngezinsana ezingamahora angu-24 ubudala. Ukuhlolwa kwamakhansela kwamalungu omndeni osengozini kukhona, kodwa kuphela uma kutholakala kokubili izinhlobo ze-IUDA zofuzo emndenini.
Ochwepheshe abaningi bahilelekile ekunakekeleni umuntu nge-MPS I. Umeluleki wezakhi zofuzo angakhuluma nomndeni kanye nezihlobo mayelana nezingozi zokudlulisa isifo.
Izinhlobo
Kunezinhlobo ezingu-7 ezincane zezifo ze-MPS kanye ne-MPS I-subtype yokuqala (enye i-MPS II (Hunter syndrome), i-MPS III (i-Sanfilippo syndrome), i-MPS IV, i-MPS VI, i-MPS VII, ne-MPS IX).
Izimpawu
Ngenye yezinkinga ze-MPS zingabangela izimpawu ezihlukahlukene, kodwa eziningi zezifo zihlanganyela izimpawu ezifanayo, njenge:
- I-corneal clouding (izinkinga zamehlo)
- Isifinyezo esifushane (ukushaywa phansi noma ngaphansi kokuphakama okujwayelekile)
- Ubunzima obuhlangene
- Izinkinga zokukhuluma nezokuzwa
- I-Hernias
- Izinkinga zenhliziyo
Izimpawu ezivamile eziqondene noHurler syndrome (kanye neSyme neHurler-Scheie syndrome) zifaka:
- Ukubukeka okungavamile kokubukeka (ukukhubazeka kwesimo sobuso) kuchazwe ngokuthi "inkambo"
- Ukwandiswa kwesilwane nesibindi
- Ukuvinjelwa kwamandla omgwaqo ophezulu
- Ukukhubazeka kwamathambo
- Ukwandiswa nokuqina kwenhliziyo yesisu ( cardiomypathy )
Isigameko
Emhlabeni wonke, i-MPS enamandla ngenza cishe ku-1 kuzo zonke izinhlobo zokuzalwa ezingu-100,000 futhi ihlukaniswe ngamaqembu amathathu ngokusho kohlobo, ubunzima, nendlela izimpawu eziqhubeka ngayo.
Ama-MPS anqatshelwe Ngingavamile, okwenzeka ngaphansi kwezingu-1 ku-500,000 ukuzalwa.
Ifa
I-Hurler syndrome izuzwe ngefayela elilodwa le- autosomal pattern ethintekayo , okusho ukuthi ingane kufanele izuze amakhophi amabili wegesi ye-MPS I, eyodwa evela kumzali ngamunye, ukuze kuthuthukiswe lesi sifo.
Njengoba isimo sinesifazana, abazali abaningi abanezingane ezine-Hurler syndrome bakhathazeka ngokuthi ezinye izingane nazo zingazalwa nge-enzyme elahlekile. Njengoba lesi simo sisebenza ngokweqile, bobabili abazali ngokuvamile babhekwa "abathwali." Lokhu kusho ukuthi banekhophi eyodwa yegesi eveza i-enzyme evamile, kanye nekhophi eyodwa engekho. Ingane kufanele izuze izakhi zofuzo ezingalungile kubazali bobabili.
Ingozi yokuthi abazali ababili abathwali bayoba nengane ene-MPS engamaphesenti angu-25. Kukhona namaphesenti angama-25 amathuba okuthi ingane izothatha amakhophi avamile kokubili izakhi zofuzo. Ingxenye yesikhashana (amaphesenti angu-50) ingane izodla ifulethi elingenasici kusuka komzali oyedwa kanye nesakhi sofuzo esivela kwenye. Lezi zingane ngeke zibe nezimpawu, kodwa izothatha isifo se-syndrome njengabazali bakhe.
Imigqa
I-MPS Ngicatshangelwa ukuthi ikhona phakathi kwezinto ezibonakalayo ezincane (ezinqatshelwe) kuya ezinzima: Kukhona ukweqa okuphawulekayo phakathi kwalezi zingekho kanye nokungafani okuphawulekayo kwezinto eziphilayo ezikhona phakathi kwalezi zinto.
- Ifomu elimnene, noma elinqunyiwe le-MPS Mina futhi ngiyaziwa njengeSyme syndrome noma i- MPS IS : Izingane ezizalwe ngaleli fomu zinokuhlakanipha okujwayelekile futhi zingaphila kubantu abadala.
- Ifomu elibi le-MPS engaziwa ngokuthi i- Hurler syndrome noma i- MPS IH : Izingane ezithintekayo ngesimo esibi zingase zibe nokuphuza kwengqondo, iziqu ezincane, amalunga anzima, inkulumo nokukhubazeka kokuzwa, isifo senhliziyo nokuphila okuncishisiwe. Lezi zingane zivame ukubonakala zivame ukuzalwa lapho izimpawu ezingezona ezithile zikhula phakathi nonyaka wokuqala wokuphila. Isibonelo, ngonyaka wokuqala wokuphila bangase babe nezifo zokuphefumula noma i-hernia embilical, izimo ezitholakala kaningi ezinganeni ezingenayo i-syndrome. Izici zobuso zibonakala phakathi nonyaka wokuqala, zilandelwa izinkinga zamathambo ezandayo. Ngokukhula kweminyaka emithathu kuvame ukunciphisa kakhulu futhi izinkinga zokuqonda nokuzwa zibonakala.
- Ezinye izingane zingase zibe nokuhlakanipha okujwayelekile futhi izimpawu zomzimba ezinzima; lesi simo singabizwa ngokuthi i- Hurler-Scheie syndrome noma i- MPS I HS .
Lezi zimpawu zifana kakhulu ne-MPS II (Hunter syndrome) , kodwa izimpawu ze-Hurler ze-syndrome ziba zibi kakhulu kunesi-Hunter syndrome uhlobo A.
Ukwelapha
Akusekho ukwelashwa kwe-MPS I, ngakho-ke ukwelashwa kugxile ekusuleni izimpawu.
Imithi - i-Aldurazyme (i-laronidase) ithatha isikhundla se-enzyme engenalutho ku-MPS I. Aldurazyme inikezwa ngokukhipha okungenayo ngesonto ngalinye ngokuphila kubantu abane-MPS I. Aldurazyme kusiza ukukhulula izimpawu kodwa akuyona ikhambi.
Ukufakelwa kwesitembu se-Stem - Okunye ukwelashwa okutholakala ku-MPS I- transplant bone , okubeka amangqamuzana avamile emzimbeni ozokhiqiza i-enzyme elahlekile. Kodwa-ke, izingane eziningi ezine-Hurler syndrome zinezifo zenhliziyo futhi azikwazi ukubhekana ne-chemotherapy edingekayo ukufakelwa. Ukufakelwa kwe-stem cell, uma kunokwenzeka, kungase kuthuthukise ukusinda, ukwehla kwengqondo, nezinkinga zomzimba nokuphefumula, kodwa akuphumelelanga kakhulu ekubhekaneni nezimpawu zamathambo.
Imithombo:
UJameson, E., Jones, S., noT. Remmington. I-Enzyme Replacement Therapy neLaronidase (Aldurazyme) Yokuphatha I-Mucopolysaccharidosis Uhlobo I. I-Cochrane Database yezibuyekezo ezihleliwe . 2016. 4: CD009354.
Wraith, J., noS. Jones. Uhlobo lwe-Mucopolysaccharidosis I. Ukubuyekezwa kwe-Endocrinology yezingane . 2014. 12 Isamba 1: 102-6.
Wolf, D., Banerjee, S., Hackett, P., Whitley, C., McIvor, R., no W. Low. I-Gene Therapy ye-Neurologic Ukubonakaliswa kweMucopolysaccharidoses. Umbono wezobuchwepheshe ekuDlulisweni kwezidakamizwa . 2015. 12 (2): 283-96.