Isifo Pompe: iimpawu kunye nonyango

Namhlanje kukho izifo ezininzi ezahlukeneyo ukuba iingcali nazo ezinqabileyo kakhulu. Enye yezi ngxaki - isifo Pompe. Yintoni na? Kule kwaye ufuna ukuthetha ngayo ngoku.

lwesigama

Ekuqaleni, kuyimfuneko ukuba ukuqonda imigaqo esisiseko. Ngoko ke, isifo Pompe - a ukuphazamiseka pathways kunqabile ukuba unalo imvelaphi yemfuza. Le ukungabikho azalwa enzyme ezizodwa, ekufuneka umntu ngamnye njengoko lukhuthaza ukuthotywa of glycogen (umthombo wamandla namandla). Xa kungekho lwesi sakhi kwindawo ukuqokelelana abaninzi kakhulu le glycogen ngasentla, ibangela iingxaki ezahlukahlukeneyo. Kubalulekile ukuba uqaphele ukuba esi sifo isigulana abachaphazelekayo imicu kwezihlunu.

Main malunga nesifo

Ekuqaleni, kufanele kuqatshelwe ukuba iimpawu zesi sifo zingenzeka nangaliphi na ixesha kwaye na ubudala, ukususela ebuntwaneni kunye nesiphelo ukuvuthwa. Nangona kunjalo, zonke izigulane baye ngendlela enye: olwenzeka kancane glycogen emzimbeni, nto leyo zisoloko ekhokelela muscular dystrophy. Ubungqongqo sifo zinokuba nomahluko. Yonke into ixhomekeke kweminyaka obubonakala, kwakunye ukubandakanyeka kwinkqubo causative amalungu kunye neenkqubo (amaninzi yokuphefumla, ezesifuba izilonda skeletal) ezahlukeneyo.

Apha ke kubalulekile ukuqaphela ukuba isifo Pompe ke iintlobo ezahlukeneyo. Ngoko ke, oogqirha bathi malunga ifomu weklasiki kwaye non-classical ingenzeka yayo.

Symptomatology kwefom lakudala lwesifo Pompe

Ekuqaleni, kufuneka kuthiwe apha ukuba oku enzima kwaye ifomu ezisongela ubomi kwesi sifo. Kaninzi kwenzeka ekuqaleni ubomi babantu, ingakumbi kwiinyanga ezintandathu zokuqala. Kule meko kulisiko ukuthetha malunga neempawu ezifana:

• Myopathy - zicaca buthathaka kwezihlunu.
• Hypotonia - yehle kwezihlunu. Ezi abantwana badla akakwazi Niziphakamise intloko yakhe.
• Cardiomegaly - ukwanda kwentliziyo.
• Hepatomegaly - isibindi akhula ukusuka kwisayizi.
• Macroglossia - ukwanda lolwimi.
• Kids nale ngxaki kakubi sifumane ubunzima, abanengxaki ngokomzimba.
• Ukuphefumla iingxaki.

Kubalulekile ukuphawula ukuba kuloo meko libalekela kulo zinzima Pompe sifo ebantwaneni. Kwaye rhoqo, ngomnyaka wokuqala wobomi, aba bantwana bayafa. Okokuqala, abanako niphakamise iintloko zabo zikhangeleke namasele. Zonke izakhono motor zinaso ngokucothayo, njengoko nako ukuphulukana ngokuhamba kwexesha. Amaxesha amaninzi ezi chips abakwazi ukufunda ukuhlala, khasa uhambe. Ngenxa yobuthathaka kwezihlunu baye kancane kancane insufficiency cardiopulmonary. Ukuba ngaba ukunika uncedo ngexesha umntwana onjalo yaye akazange ukuqala unyango oluchanekileyo, umntwana udla afe kokuba wokuzalwa kwakhe kuqala.

I non-classical uhlobo sifo

nga Pompe njani isifo kwenzeka kwi non-classical kwifomu? Ngoko ke, ekuqaleni kufanele kuphawulwe ukuba abonakala phambi kweminyaka konyaka omnye. Abantwana enjalo waphawula:

• izakhono motor baswele kunye lizuza.
• Muscle ubuthathaka, leyo luqhubeka kuphela.
• Cardiomegaly, ukuze kuthi ukusilela intliziyo.

Olu hlobo esi sifo yahlukile kuba lwenzeka hayi ngokukhawuleza. Iimpawu zokuqala nabo bangabonwa hayi, njengoko kuboniswa kuphela xa ubuthathaka kwezihlunu. Kubalulekile ukuba uqaphele ukuba le meko kufuneka uqale unyango kwangethuba kangangoko kunokwenzeka. Ngapha koko, xa umntwana ubaleka ingozi yokuba afe esemncinane ngendlela eyahlukileyo lweziganeko.

Ikhosi ye sifo abadala

Cinga indlela iinzuzo evela sifo abantwana Pompe (photo kids nesi sifo zithiwe thaca kwinqaku), kufuneka nabo banibikele malunga iimpawu le ngxaki abadala. Ngoko ke, ekuqaleni kufanele kuqatshelwe ukuba iimpawu zokuqala zesi sifo kuvela ekuyeni ekupheleni lokufikisa, kwaye ngamanye amaxesha kamva. Pompe sifo kwenzeka kubantu abadala lithambile kakhulu kunokuba kwiintsana, Noko ke, kufuneka uqale unyango kwangethuba kangangoko kunokwenzeka. Eyona eziphambili Iimpawu kulo mzekelo:

• Muscle ubuthathaka, ikakhulu ukuba umntla kunye nemilenze.
• iintsilelo zokuphefumla, kukho ukusilela uvalo.
• utshintsho iqinelwa uba iyaxokozela kunye ezingazinzanga.
• Ubuhlungu imisipha.
• Ndidikwe umzimba kunokwenzeka yaye benyuka ngezinyuko.
• Isibindi nentliziyo ukunyuka ubukhulu.

unyango

Xa ucinga isifo Pompe, unyango kufuneka nazo zihlolwe. Kufuneka kuqatshelwe ukuba ukumelana nale ngxaki ayikho simple kunjalo, ukwazi nje ukuya ivenkile kuthenga amayeza omnye. Kudinga unyango replacement xa ufuna ukubuyisela i-enzayimi ekuthiwa myositis. Emva koko, izigulane ziya kuyeka ukuqhubela phambili sifo, kwaye kukho ixesha kuzolile. Kubalulekile ukuqaphela ukuba unyango yesondlo kunceda ukuba ugcine kufanelekile namandla ubomi obuqhelekileyo.