Sclerosis Ya Tuberous

Tuberous sclerosis (TOO-bur-us skluh-ROH-sis), izwi kandi nka tuberous sclerosis complex (TSC), ni indwara idasanzwe iterwa na gene itera udukoko mu bice byinshi by'umubiri. Aya maduduka si kanseri. Udukoko tudatera kanseri, tuzwi kandi nka duduka nta ngaruka, ni ukwiyongera kw'uturemangingo n'imiterere y'umubiri bitateganijwe. Ibimenyetso bitandukanye cyane, bitewe n'aho ubwo bwivuka bukura n'ubunini bwabwo.

Tuberous sclerosis ikunze kuboneka bwa mbere mu buto cyangwa mu bwana. Rimwe na rimwe tuberous sclerosis ishobora kugira ibimenyetso bidakomeye ku buryo iyi ndwara itaboneka kugeza mu bukure, cyangwa ntiboneke na gato. Rimwe na rimwe tuberous sclerosis itera ubumuga bukomeye.

Nta muti uwo ari wo wose wa tuberous sclerosis, kandi uko iyi ndwara igenda n'uburemere bwayo ntibishobora kumenyekana. Ariko hari uburyo bwo kuvura ibimenyetso.

Ibimenyetso bya tuberous sclerosis biterwa n'ibibyimba bidatera kanseri mu bice bimwe na bimwe by'umubiri, cyane cyane ku ruhu, mu bwonko, mu maso, mu mpyiko, mu mutima no mu mwijima. Ariko igice icyo ari cyo cyose cy'umubiri gishobora kwibasirwa. Ibimenyetso bishobora kuba bito cyangwa bikomeye, bitewe n'ubunini cyangwa aho ibibyimba biherereye. Nubwo ibimenyetso bitandukanye kuri buri muntu ufite tuberous sclerosis, bishobora kuba birimo: Impinduka z'uruhu. Impinduka z'uruhu ni zo zihoraho. Ibi birimo ibice by'uruhu rwera kandi ibice bito by'uruhu rworoheye, rworoheye cyangwa rworoheye. Ku gahanga, uruhu rushobora kugira ibice byazamutse, byahindutse ibara. Ibice bito byoroheje biri munsi cyangwa hafi y'imisumari bishobora kubaho. Ibimera ku maso bitangira mu bwana kandi bigasa nka bagiteri ni byo bisanzwe. Imihindagurikire. Ibimera mu bwonko bishobora guhuzwa n'imihindagurikire. Akenshi, ihinduka ni ryo bimenyetso cya mbere cya tuberous sclerosis. Mu bana bato, ubwoko busanzwe bw'ihinduka bita infantile spasm burimo gukomera kw'amaboko n'amaguru no gukubita inyuma n'umutwe. Ibibazo mu kwiyumvisha, mu gutekereza no kwiga. Tuberous sclerosis ishobora gutera ubusembwa mu iterambere. Rimwe na rimwe bigabanya ubushobozi bwo gutekereza, gutekereza no kwiga. Ibimenyetso byo mu mutwe, nka autism spectrum disorder cyangwa attention-deficit/hyperactivity disorder (ADHD), bishobora kandi kubaho. Ibibazo by'imyitwarire. Ibibazo bisanzwe by'imyitwarire bishobora kuba birimo umuvuduko, kwangiza umubiri cyangwa ubugome, cyangwa ibibazo byo guhuza imibanire n'amarangamutima. Ibibazo by'impyiko. Ibimera ku mpyiko ni byo bisanzwe, kandi ibindi bimera bishobora kuzamuka uko umuntu akura. Ibibazo by'umutima. Ibimera mu mutima, niba bihari, akenshi biba binini cyane igihe umwana avutse kandi bigabanuka uko umwana akura. Ibibazo by'imwijima. Ibimera bikura mu mwijima bishobora gutera inkorora cyangwa kugira ikibazo cyo guhumeka, cyane cyane mu gihe cy'imikino cyangwa imyitozo. Ibi bibyimba by'imwijima bibaho kenshi mu bagore kuruta mu bagabo. Ibibazo by'amaso. Ibimera bishobora kugaragara nk'ibice byera ku mubiri wumva umucyo inyuma y'ijisho bita retina. Ibi bimera akenshi ntibibangamira ubwenge. Impinduka z'amenyo. Amenyo ashobora kugira iminkanyari ku mubiri. Ibimera bito bishobora kugaragara ku manwa, imbere y'amasura no ku rurimi. Ibimenyetso bya tuberous sclerosis bishobora kuboneka igihe umwana avutse. Cyangwa ibimenyetso bya mbere bishobora kugaragara mu bwana cyangwa imyaka myinshi nyuma y'ubukure. Suhuza umuvuzi w'umwana wawe niba uhangayikishijwe n'iterambere ry'umwana wawe cyangwa ukabona ibimenyetso bya tuberous sclerosis.

Ibimenyetso bya tuberous sclerosis bishobora kugaragara umwana avutse. Cyangwa ibimenyetso bya mbere bishobora kugaragara mu bwana cyangwa imyaka myinshi nyuma y'ubukure.

Suhuza n'abaganga bita ku buzima bw'umwana wawe niba uhangayikishijwe n'iterambere ry'umwana wawe cyangwa ukabonye ibimenyetso bya tuberous sclerosis.

Tuberous sclerosis ni indwara iterwa na gene idahwitse iterwa n'impinduka za gene- rimwe na rimwe bizwi nka mutations-muri TSC1 cyangwa gene ya TSC2. Izi gene zifatwa ko zikumira ko uturemangingo dukura cyane cyangwa mu buryo budacunguwe. Impinduka muri imwe muri izi gene zishobora gutuma uturemangingo dukura kandi tugakwirakwira kurusha uko bikenewe. Ibi bituma habaho ibintu byinshi mu mubiri wose. Ibi bintu bifatwa nk'ibituburwa bitari kanseri.

Tuberous sclerosis ishobora guterwa na:

• Akosa k'umwanya w'akagabane k'uturemangingo. Abantu bagera kuri bibiri bya gatatu bafite tuberous sclerosis bagira impinduka nshya mu gene TSC1 cyangwa TSC2 bifitanye isano na tuberous sclerosis. Abantu benshi nta mateka y'umuryango wa tuberous sclerosis bafite.
• Impinduka mu gene iherwa mu miryango. Abantu bagera kuri kimwe cya gatatu bafite tuberous sclerosis babona gene ya TSC1 cyangwa TSC2 yahindutse iva ku mubyeyi ufite iyo ndwara.

Niba ufite tuberous sclerosis, ufite amahirwe agera kuri 50% yo guhererekanya gene yahindutse n'indwara ku bana bawe babyaranye, bisobanura ko abana bafitanye isano nawe amaraso bashobora kurakomoka iyo gene. Uko iyo ndwara ikomeye bishobora gutandukana. Umubyeyi ufite tuberous sclerosis ashobora kugira umwana ufite uburwayi buke cyangwa bukomeye.

Bitewe n'aho udukoko tudatera kanseri dukura n'ubunini bwabo, bishobora gutera ingaruka zikomeye cyangwa zishobora kwica. Dore bimwe mu byo bishobora gutera:

• Amazi menshi mu bwonko no ku ruhande rwabwo. Ubwoko bumwe bw'ubwonko budatera kanseri, subependymal giant cell astrocytoma, bushobora gukura ku ruhande rw'ahantu hazuyemo amazi mu bwonko, twita ventricles. Udukoko dushobora kubuza amazi afasha kurinda ubwonko kugenda neza, bigatuma amazi yiyongera mu bwonko. Iyi myongera y'amazi mu bwonko yitwa hydrocephalus. Ibimenyetso bishobora kuba birimo umutwe munini udasanzwe, isereri, kubabara umutwe n'impinduka mu myitwarire.
• Ingaruka ku mutima. Udukoko mu mutima, akenshi mu bana bato, dushobora kubuza amaraso kugenda neza cyangwa gutera ibibazo mu mikorere y'umutima.
• Gucika intege kw'ibihaha. Udukoko mu bihaha birangiza imikorere y'ibihaha kandi bishobora gutera ko ibihaha bidakora neza. Udukoko buza imikorere y'ibihaha mu gutanga umwuka mu mubiri wose.
• Ibyago byiyongereye byo kurwara kanseri. Tuberous sclerosis ifitanye isano n'ibyago byiyongereye byo kurwara kanseri mu mpyiko no mu bwonko.
• Kwangirika kw'ubuhanga bwo kubona. Udukoko mu jisho bishobora kubangamira ubuhanga bwo kubona niba bibangamiye retina cyane, nubwo ari bike.

Bitewe ku bimenyetso, wowe cyangwa umwana wawe mushobora kubona abaganga batandukanye b'inzobere mu ndwara ya tuberous sclerosis. Abo baganga bashobora kuba barimo abaganga b'inzobere mu ndwara z'ubwonko (neurologist), umutima (cardiologist), amaso (ophthalmologist), uruhu (dermatologist) n'impyiko (nephrologist). Abandi baganga bashobora kongerwamo uko bikenewe.

Umuganga ubuvuza akenshi akora isuzuma ngaramukama kandi aganira nawe ku bimenyetso n'amateka y'umuryango. Umuvuzi arashaka ibintu bikura, bizwi kandi nka tumorous zidakomeretsa, ziterwa cyane na tuberous sclerosis. Umuvuzi ashobora kandi gutegeka ibizamini byinshi - birimo ibizamini by'amaraso n'ibizamini bya gene - kugira ngo amenye tuberous sclerosis kandi amenye ibibazo bifitanye isano.

Ibizamini byo kuvura bishobora kuba birimo electroencephalogram (eh-lek-tro-en-SEF-uh-lo-gram), rimwe na rimwe bitwa EEG. Iki kizamini cyandika ibikorwa by'amashanyarazi mu bwonko kandi gishobora gufasha kumenya icyateye indwara y'ubwonko.

Kugira ngo hamenyekane ibintu bikura mu mubiri, ibizamini bishobora kuba birimo:

• MRI. Iki kizamini gikoreshwa uburyo bwa magnétique n'amajwi ya radiyo kugira ngo hakorwe amashusho y'ubwonko cyangwa izindi nzego z'umubiri.
• CT scan. Ubu buryo bwa X-ray bukorera amashusho yaciwe, rimwe na rimwe amashusho ya 3D, y'ubwonko cyangwa izindi nzego z'umubiri.
• Ultrasound. Bizwi kandi nka sonography, iki kizamini gikoreshwa amajwi y'umuvuduko mwinshi kugira ngo hakorwe amashusho y'ibice bimwe na bimwe by'umubiri, nka figwa, umutima n'impyiko.

Kugira ngo hamenyekane niba umutima ukozweho, ibizamini bisanzwe birimo:

• Echocardiogram. Iki kizamini gikoreshwa amajwi kugira ngo hakorwe amashusho y'umutima.
• Electrocardiogram. Bizwi kandi nka ECG cyangwa EKG, iki kizamini cyandika ibikorwa by'amashanyarazi by'umutima.

Umucyo n'ikirahure cyagurura bifashishwa kureba imbere y'ijisho, harimo na retina.

Iki kizamini kireba amenyo n'imbere y'akanwa. Bishobora kuba birimo ama-X-rays y'amenyo n'amashati.

Nibiba ngombwa hashingiwe ku isuzuma, isuzuma rikorwa n'umuganga w'indwara zo mu mutwe, umuhanga mu by'imitekerereze cyangwa undi muvuzi w'ubuzima bwo mu mutwe bishobora gufasha kumenya gutinda mu iterambere, ibibazo mu bushobozi bw'umwana bwo kwiga no gukora, ibibazo by'ishuri cyangwa by'imibanire, cyangwa ibibazo by'imyitwarire cyangwa ibyiyumvo.

Ibizamini bya gene bishobora kwemeza indwara ya tuberous sclerosis. Niba umwana agaragayeho tuberous sclerosis adafite amateka y'umuryango w'iyi ndwara, ababyeyi bombi bashobora kwifuza gukora ibizamini bya gene bya tuberous sclerosis kuri bo ubwabo. Inama ku bijyanye na gene ishobora gufasha ababyeyi kumva ibyago bya tuberous sclerosis ku bana babo abandi n'abandi bana bazabyara mu gihe kizaza.

Abantu bafite tuberous sclerosis bashobora gutekereza ku nama ku bijyanye na gene mbere y'imyaka yo kubyara kugira ngo bamenye ibyago byo kwanduza iyi ndwara n'amahirwe bafite.