I-Mucopolysaccharidosis I (MPS-1) - I-Ype ye-Hereditary ye-Molecular Storage Disease
Ukuba ufundile ukuba umntwana wakho okanye umntwana womntu onomthandayo unesifo se-Hurler syndrome, mhlawumbi udidekile kwaye uyethusa. Ithetha ntoni le nto?
Inkcazo
I-Hurler syndrome ngumhlobo wesifo sokugcina emzimbeni obangelwa kukuntuleka kwe-enzyme enye. I-enzyme engavumelekanga, i-alpha -L-iduronidase (IDUA) ibangelwa ukuguqulwa kwemfuza kwi-gene i-IDUA, i-gene ekhoyo kwi-chromosome 4.
Le meko ihluka ngobunzima, kodwa yimeko eqhubekayo equka iinkqubo ezininzi zomzimba.
Ukuqonda iMucopolysaccharidoses (MPS)
I-Mucopolysaccaridoses (i-MPS) yiqela leengxaki ze-genetic apho i-enzyme yomzimba ebalulekileyo (iikhemikhali) ilahlekile okanye ingabikho ngokwaneleyo. I-MPS Isifo esibangelwa kukusilela kwenzzythi ethile ebizwa ngokuthi i-alpha-L-iduronidase (IUDA).
I-enzyme i-alpha-L-iduronidase idiliza iinqununu ezininzi zeamolekyuli zeshukela ukuze umzimba ungakwazi ukuwachitha. Ngaphandle kwe-enzyme, iinqununu ezinkulu zeeshukela zakha kwaye ziwonakalise ngokukhawuleza iinxalenye zomzimba.
Ukwakhiwa kwee-molecule (i-glycosaminoglycans okanye i-GAG) kwenzeka kwi-lysosomes (i-organelle ekhethekileyo kwiiseli eziphethe iindidi ezininzi). I-GAG echanekileyo ezakhayo kwi-lysosomes zihluke kwiintlobo ezahlukeneyo zezifo ze-MPS.
I-Hurler Syndrome okanye i-Hurler Disease yili gama lembali kwiinguqu ezinzima kakhulu ze-MPS.
U-Hurler wayeyigama lokugqibela logqirha owaqala ukuchaza imeko.
Umntwana uza kubonisa iimpawu ezimbalwa ze-disorder ngexesha lokuzalwa kodwa emva kweenyanga ezimbalwa (xa ama-molecule eqala ukwakhiwa kwiiseli) iimpawu ziqala. Izifo ezinokukhubazeka ziyafumaneka. Intliziyo kunye neenkqubo zokuphefumula zichaphazelekayo, njengokuba ezinye izitho zangaphakathi ziquka ingqondo.
Umntwana ukhula kodwa uhlala emva kokukhula kwenyama kunye nengqondo yakhe.
Umntwana unokuba neengxaki zokukhwela kunye nokuhamba, kwaye iingxaki zamalungu akhe zikhula, ezibangela ukuba amalungu omzimba afane nezandla zakhe ukuba angakwazi ukulungisa. Abantwana abane-syndrome ye-Hurler bavame ukungena kwiingxaki ezinjenge-heart failure okanye pneumonia.
Ukuxilongwa
Ukuxilongwa kwe-Hurler syndrome kusekelwe kwimpawu zomzimba zomntwana. Ngokuqhelekileyo, iimpawu ze-MPS ezinzima ndiya kubakho ngunyaka wokuqala wobomi, ngelixa iimpawu ze-MPS ezithintekayo zivela ebuntwaneni. Uvavanyo lunokubona ukuhla kwe-enzyme. Kusenokuba nako ukufumanisa isifo kwiimvavanyo zezofuzo zemfuyo
U vavanya
Ukuvavanywa kwangaphambi kokubeletha kwe-MPS Ndiyinxalenye yePhaneli eFunyiwe yokuBoniswa kweeNyunithi ezinconywayo ezenziwa kwiintsana ezingama-24 ubudala. Ukuvavanywa kwenkxaso yomzimba kwintsapho yentsapho ikhona, kodwa kuphela ukuba iinguqu ze-IUDA zeentlobo ziye zafunyanwa kwintsapho.
Iingcali ezininzi zibandakanyeka ekunyamekelweni komntu kunye ne-MPS I. Umcebisi wezofuzo unokuthetha kunye nosapho kunye nezihlobo malunga neengozi zokudlula kwi-syndrome.
Iintlobo
Kukho iintlobo ezi-7 zezifo ze-MPS kunye ne-MPS ndiyinxalenye yokuqala (enye i-MPS II (i-Hunter syndrome), i-MPS III (i-Sanfilippo syndrome), i-MPS IV, i-MPS VI, i-MPS VII kunye ne-MPS IX).
Iimpawu
Ngenye yeengxaki ze-MPS zinokubangela iintlobo ezahlukeneyo zempawu, kodwa ezininzi zezifo zineempawu ezifanayo, ezifana nalezi:
- Iintambo ze-Corneal (iingxaki zamehlo)
- Isiqu esifutshane (ubuncinane okanye ngaphantsi kokuphakama okuqhelekileyo)
- Ubunzima obuhlangeneyo
- Ingxoxo kunye neengxaki zokuva
- Hernias
- Iingxaki zeentliziyo
Izimpawu eziqhelekileyo kwi-Hurler syndrome (kunye ne-Scheie ne-Hurler-Scheie syndrome) ziquka:
- Ubuso obungabonakaliyo (ubuso obunzima buso) buchazwa ngokuba yi "inkambo"
- Ukwandiswa kweseyile nesibindi
- Ukukhutshwa komoya ophezulu
- Ukuguqulwa kwamathambo
- Ukwandiswa nokuqina kwesisu senhliziyo (i- cardiomypathy )
Isiganeko
Ehlabathini lonke, i-MPS enamandla ndiyenzeka malunga no-1 kuwo onke ama-100,000 okuzalwa kwaye ihlulwe ngamacandelo amathathu ngokohlobo, ubunzima, kunye nendlela iimpawu eziqhubeka ngayo.
I-MPS ekulindelweyo Andiqhelekanga, eyenzeka ngaphantsi kwe-1 kwii-500,000 zokuzalwa.
Ifa
I-Hurler syndrome izuze iprotomu ye-autosomal pattern , echaza ukuba umntwana kufuneka azuze iikopi ezimbini ze-genes ye-MPS I, omnye kumzali ngamnye, ukuze kuphuhliswe eso sifo.
Ekubeni iimeko zifa, abazali abaninzi abanomntwana abane-syndrome ye-Hurler bakhathazeke kukuba abanye abantwana banokuzalwa kunye ne-enzyme ekhoyo. Ekubeni imeko leyo i-autosomal recessive, abazali bobabini baninzi bajongwa "ngabathwali." Oku kuthetha ukuba banekhophi enye yegeni evelisa i-enzyme ngokuqhelekileyo, kunye nekopi enye engekho. Umntwana kufuneka azuze ilifa leengxaki eziphilayo ezingabikhoyo kubazali bobabini.
Umngcipheko wokuba abazali ababini abathwala imithwalo baya kuba nomntwana one-MPS ngamaphesenti angama-25. Kukho neepesenti ezingama-25 ukuba umntwana uya kufumana iikopi eziqhelekileyo zombini iigesi. Isiqingatha ixesha (iipesenti ezingama-50) umntwana uya kulidla ilifa elingenampembelelo kumzali omnye kunye nomdla wesiqhelo ukusuka kwenye. Aba bantwana abayi kuba naziphi iimpawu, kodwa baya kuba ngabaphathi be-syndrome njengabazali bakhe.
Ranges
I-MPS ndicingwa ukuba ikhona kwi-spectrum evela kumnxeba (i-atttenuated) ibe nzima: Kukho ukuphazamiseka okuphawulekayo phakathi kwezi zinto kwaye akukho nantlukwano ebalulekileyo yezinto eziphilayo ezikhoyo phakathi kwezi.
- Ifom ye-MPS enomoya omnene, okanye okhunjulwayo ndiyaziwa ngokuba yi- Scheie syndrome okanye i- MPS IS : Abantwana abazalwe ngale fom banesicatshulwa esiqhelekileyo kwaye banokuphila kubantu abadala.
- Ifomu enzima ye-MPS ndiyaziwa njenge- Hurler syndrome okanye i- MPS IH : Abantwana abachaphazelekayo kwifomu enokuthi banokulinda kwengqondo, ukuma okufutshane, ama-joints aqinile, intetho kunye nokuphazamiseka kokuva, isifo senhliziyo kunye nobude obufutshane. La bantwana bavame ukubonakala beqhelekileyo ekuzalweni kunye neempawu ezingezizo eziza kuphuhliswa kunyaka wokuqala wokuphila. Ngokomzekelo, kunyaka wokuqala wobomi banokuba nezifo zokuphefumula okanye i-hernilical hernia, imeko ifunyenwe rhoqo kwizingane ezingenayo i-syndrome. Iinkalo zobuso zibonakaliswa ngunyaka wokuqala, zilandelwa iingxaki zesifo segazi. Ngokukhula kweminyaka emithathu ngokuqhelekileyo kuphungula kakhulu kwaye iingxaki zengqondo kunye neentetho zibonakala.
- Abanye abantwana banokuba neengqondo eziqhelekileyo kunye nezibonakaliso ezinzima zomzimba; le meko ingabizwa ngokuba yi- Hurler-Scheie syndrome okanye i- MPS I-HS .
Ezi zimpawu zifana kakhulu ne-MPS II (i-Hunter syndrome) , kodwa iimpawu ze-Hurler ze-syndrome ziba zibi kakhulu ngokukhawuleza kune-Hunter syndrome type A.
Unyango
Akukho-mpiliso ye-MPS, kodwa unyango lujolise ekunciphiseni iimpawu.
Imithi - i-Aldurazyme (i-laronidase) ithatha indawo ye-enzyme engenawo amandla kwi-MPS I. I-Aldurazyme inikezelwa ngokunyuswa kwamanyango ngeveki kubomi kubantu abane-MPS I. I-Aldurazyme inceda ekunciphiseni iimpawu kodwa ayiyiyo yonyango.
Ukutshintshwa kwe-cell stem - Olunye unyango olutholakalayo lwe-MPS Ndiyifumanisa umongo we-bone , obeka iiseli eziqhelekileyo emzimbeni oza kuvelisa i-enzyme ekhoyo. Nangona kunjalo, abaninzi abantwana abane-syndrome ye-Hurler banesifo senhliziyo kwaye abanako ukuhamba nge-chemotherapy efunekayo ukutshintshwa. Ukutshintshwa kweseli yesitshixo, xa kunokwenzeka, kunokuphucula ukuphila, ukuhla kweengqondo, kunye neengxaki zomoya kunye nokuphefumula, kodwa kusebenza kangangoko ekujonganeni neempawu zesifo.
Imithombo:
UJameson, E., Jones, S., kunye noT. Remmington. I-Enzyme Replacement Therapy kunye neLaronidase (Aldurazyme) yokuPhatha iMucopolysaccharidosis Uhlobo I. I-Cochrane Database yeeNkqubo eziPhezulu . 2016. 4: CD009354.
Wraith, J., noS. Jones. Mucopolysaccharidosis Uhlobo I. Uphononongo lwe-Endocrinology . 2014. ISibonelelo 1: 102-6.
I-Wolf, D., iBerjejee, S., Hackett, P., Whitley, C., McIvor, R., kunye no-W. Low. I-Therapy ye-Gene ye-Neurologic Ukubonakaliswa kweMucopolysaccharidoses. Iingcamango zengcali kwiNgcaciso yeMithi . 2015. 12 (2): 283-96.