Hari umuntu wo mu muryango wawe ufite indwara idakunze kugaragara mu buryo bw'uturemangingo? Menya ibijyanye n'indwara zo kubika za Lysosomal

Hari igihe bitugora gusobanukirwa indwara zimwe na zimwe zigera ku muntu wo mu muryango wacu, cyane cyane umwana muto. Iyo tugiye kwa muganga, ntabwo tuba tuzi zimwe muri izo ndwara atubwira. Uyu munsi rero turimo kuvuga ku itsinda ry'indwara abantu benshi batari barigeze bumva, ariko ni ingenzi cyane kuzimenya. Izi ndwara zitwa Lysosomal Storage Disorders. Nubwo iri zina rishobora kugaragara nk'aho rigoye iyo urisobanukiwe, reka turisobanukirwe mu buryo bworoshye.

Ni iki mu by'ukuri gisobanura indwara zo kubika lysosomal (LSD)?

Reka tuvuge dutya. Imibiri yacu igizwe n'uturemangingo duto tubarirwa muri za miriyari. Muri buri turemangingo harimo igice cyihariye cyitwa 'lysosome.' Tekereza ko ari 'ikigo cyo kuvugurura imyanda' imbere mu turemangingo. Akazi kayo k'ingenzi ni ugusenya, gusya no kongera gukoresha ibintu turemangingo tudakeneye, nka poroteyine, isukari, n'ibice bya kera by'uturemangingo.

Kugira ngo ikore aka kazi k'ingenzi, lysosome ifite itsinda ryihariye ry'abafasha. Tuyita 'enzymes'. Izi ni ubwoko bwihariye bwa poroteyine. Kimwe n'imikasi, izi enzymes zifasha mu gusenya no gusenya ibintu binini.

Noneho tekereza kuri ibi, bigenda bite iyo ku mpamvu runaka imwe muri izi enzymes idakozwe neza mu mubiri wacu? Hanyuma akazi k'icyo 'gikoresho cyo kongera gutunganya ibintu' ntigakora neza. Ibintu bigomba gusenywa no gusya, ni ukuvuga ibintu nka poroteyine n'ibinure, bitangira kwirundanya mu turemangingo. Nk'aho imyanda ijugunywa. Uko igihe kigenda gihita, ibyo bintu byirundanyije biba uburozi ku turemangingo, bigatangira gusenya uturemangingo, kandi binyuze muri ibyo, byangiza ingingo zitandukanye mu mubiri wacu. Iyo ni yo ndwara twita lysosomal storage disorder.

Ni ubuhe bwoko bw'ingenzi bw'iri tsinda ry'indwara?

Hari ubwoko bwinshi bw'indwara muri iki cyiciro. Buri bwoko buterwa no kubura enzyme runaka. Reka turebe ubwoko bumwe na bumwe bukunze kugaragara. Nubwo amazina y'izi ndwara asa n'aho ateye urujijo, biroroshye kuyumva iyo umaze kumenya izo ari zo.

Kuki izi ndwara zibaho?

Inyinshi muri izi ndwara ni indwara zikomoka ku maraso. Ni ukuvuga ko zikomoka ku babyeyi ku bana. Uku ni ko bigenda.

Tekereza ko ababyeyi bombi bafite 'inkomoko y'ingirabuzimafatizo idakomeye' ikora enzyme runaka. Ariko ntibagaragaza ibimenyetso kuko bafite 'inkomoko nziza' y'iyo ngirabuzimafatizo. Abo bantu tubita 'abatwara'.

Ariko, iyo umwana azunguye iyi gene idakomeye iva kuri nyina na se, umubiri w'umwana ntuzakora enzyme ijyanye nayo. Icyo gihe ni bwo umwana azarwara indwara yo kubika lysosomal.

Izi ni indwara zidasanzwe. Ariko, zimwe mu ndwara zikunze kugaragara mu moko amwe n'amwe. Urugero, indwara za Gaucher na Tay-Sachs zikunze kugaragara mu bantu bakomoka mu Bayahudi b'i Burayi.

Ibimenyetso ni ibihe?

Ibimenyetso biterwa n'imisemburo idafite akamaro, bityo bikaba biterwa n'ibice by'umubiri ibintu bidakenewe bibikwamo. Bityo rero, ibimenyetso bya buri ndwara biratandukanye.

• Ibimenyetso by'indwara ya Fabry birimo kubyimba, ububabare, gucika intege, ibibara bitukura ku ruhu, kugabanuka kw'ibyuya, no kubura amatwi mu maguru.
• Indwara ya Gaucher ishobora gutera ubwandu bw'umwobo n'umwijima, gukomereka byoroshye, kubabara amagufwa, umunaniro ukabije, no kubura amaraso (amaraso make).
• Indwara ya Pompe itera ibimenyetso nko kugira intege nke cyane mu mitsi, kugorwa no guhumeka, gukura nabi mu bana, no kugira umutima mwinshi.
• Abana barwaye indwara ya Tay-Sachs bakura neza mu mezi make ya mbere, ariko nyuma bakabura ubushobozi bwo kugenzura imitsi. Bashobora kutabona no kutumva, ndetse bakagira n'indwara zo mu mutwe.

Wamenya ute niba ufite izi ndwara?

Gusuzuma izi ndwara ni inzira igoye, ariko kuzimenya hakiri kare ni ingenzi cyane.

1. Gupima Ubwishingizi bw'Ubwishingizi bw'Ubwishingizi: Bitewe n'amateka y'umuryango wawe, muganga wawe ashobora kukugira inama yo gupima imiterere y'umubiri mbere yo gushyingirwa cyangwa mu gihe utwite. Ibi bishobora gufasha kumenya niba wowe cyangwa uwo mwashakanye mufite izi ndwara.

2. Ibizamini mu gihe cyo gutwita: Iyo hagaragaye ikintu kidasanzwe mu gihe cyo gupima umwana utwite hakoreshejwe ultrasound, muganga ashobora kukugira inama yo gupima umwana uri mu nda.

• Amniocentesis: Gupima imiterere y'uturemangingo hakoreshejwe urugero ruto rw'amazi y'umura akikije inda ya nyina.
• Gupima Viliyonike (CVS): Ingero nto y'uturemangingo ivanwa mu nyababyeyi hanyuma igapimwa.

3. Iyo umwana afite ibimenyetso: Isuzuma ry'amaraso y'umwana rishobora gupimwa kugira ngo harebwe urugero rwa enzyme. Byongeye kandi, ibindi bizamini nka MRI scan, biopsy, cyangwa isuzuma ry'inkari bishobora gukorwa.

Ni ubuhe buryo bwo kuvura ibi?

Nta muti uraboneka w’izi ndwara. Ariko hari uburyo butandukanye bwo kuvura bushobora kugenzura ibimenyetso no kongera igihe cyo kubaho n’ubuzima bwiza.

• Ubuvuzi bwo Gusimbuza Enzyme (ERT): Ibi bikubiyemo gutanga enzyme idafite umubiri igera mu mubiri binyuze mu mitsi (IV).
• Ubuvuzi bwo Kugabanya Ibice by'umubiri (SRT): Ibi bikubiyemo gutanga imiti igabanya umusaruro w'ibintu bidakenewe byirundanya mu turemangingo.
• Gutera uturemangingo tw’umugongo:Uturemangingo twakuwe ku muntu muzima dushyirwa mu mubiri w’umurwayi, bigafasha umubiri gukora enzyme ukeneye.
• Kurwanya ibimenyetso: Ibimenyetso bigenzurwa hakoreshejwe uburyo bwo kuvura nk'imiti igabanya ububabare, ubuvuzi bw'umubiri, kubagwa, ndetse rimwe na rimwe, dialyse.

Byongeye kandi, hari ubushakashatsi burimo gukorwa ku buryo bugezweho bwo kuvura indwara ziterwa n’uturemangingo, bushobora gutanga igisubizo kirambye mu gihe kizaza.

Reka twige ku bijyanye no kubaho n'izi ndwara.

Izi ni indwara z’ubuzima bwose, bityo hamwe no kuvura, ni ingenzi cyane guhindura imibereho.

• Indyo nziza: Vugana na muganga wawe n'inzobere mu mirire kugira ngo ugire indyo yuzuye ikubereye.
• Gabanya ibyago byawe: Izi ndwara zishobora kongera ibyago byo kurwara izindi ndwara. Urugero, ni ngombwa cyane ko umuntu urwaye indwara ya Fabry agenzura urugero rwa cholesterol mu mubiri we.
• Komeza gukora siporo: Baza muganga wawe imyitozo ngororamubiri ijyanye n'umubiri wawe.
• Ubuzima bwo mu mutwe: Kubana n'indwara nk'iyi igihe kirekire bishobora kugorana mu mutwe. Shaka ubufasha ku muhanga mu by'imitekerereze cyangwa umujyanama. Nanone, kujya mu matsinda y'ubufasha afitanye n'abantu bafite indwara nk'izo bishobora gufasha cyane.