Schwannomatosis

Schwannomatosis ni uburwayi butera udukoko twikura gahoro gahoro ku mubiri w'imijyana. Ibyo bikoko bishobora gukura ku mijyana yo mu matwi, mu bwonko, mu mugongo no mu maso. Bishobora kandi gukura ku mijyana yo ku mpande, ari yo mijyana iri hanze y'ubwonko n'umugongo. Schwannomatosis birare. Bisanzwe bimenyekana mu myaka y'ubukure.

Hari ubwoko butatu bwa schwannomatosis. Buri bwoko buterwa na gene yahindutse.

Muri schwannomatosis ifitanye isano na NF2 (NF2), udukoko twikura mu matwi yombi kandi bishobora gutera igihombo cy'kumva. Gene yahindutse itera ubwo bwoko rimwe na rimwe irazwa n'umubyeyi. Schwannomatosis ifitanye isano na NF2 izwiho kera nka neurofibromatosis 2 (NF2).

Ubwoko bundi bubiri bwa schwannomatosis ni schwannomatosis ifitanye isano na SMARCB1 na schwannomatosis ifitanye isano na LZTR1. Igene yahindutse itera ubwo bwoko busanzwe ntabwo irazwa mu miryango.

Udukoko twaterwa na schwannomatosis busanzwe ntabwo ari kanseri. Ibimenyetso bishobora kuba harimo: kubabara umutwe, igihombo cy'kumva, kugira ikibazo cyo kubona umubiri, no kubabara. Ubuvuzi bushingiye ku gukemura ibimenyetso.

Ibimenyetso bya Schwannomatosis biterwa n'ubwoko bwabyo. Ibimenyetso bya Schwannomatosis ifitanye isano na NF2 (NF2) bikunze guterwa n'ibibyimba bikura buhoro buhoro mu matwi yombi, bizwi nka acoustic neuromas cyangwa vestibular schwannomas. Ibibyimba ni inyama mbi, bisobanura ko atari kanseri. Ibibyimba bikura ku mpande z'imitsi itwara amakuru y'amajwi n'uburinganire kuva mu gutwi ryo hagati kugera mu bwonko. Ibi bibyimba bishobora gutera igihombo cy'umva. Ibimenyetso bikunze kugaragara mu myaka y'ubwangavu no mu myaka ya mbere y'ubukure, kandi bishobora gutandukana. Ibimenyetso bishobora kuba birimo: Kugabanuka k'umva buhoro buhoro. Gucurika mu matwi. Kubura ubushobozi bwo kubika. Uburwayi bw'umutwe. Rimwe na rimwe NF2 ishobora gutera ukura kw'ibibyimba ku zindi mitsi, harimo no mu bwonko, umugongo n'amaso. Bishobora kandi gukura ku mitsi yo ku mpande, iherereye hanze y'ubwonko n'umugongo. Abantu bafite NF2 bashobora kandi kwibasirwa n'ibindi bibyimba bidakomeye. Ibimenyetso by'ibi bibyimba bishobora kuba birimo: Kubabara no kunanirwa mu biganza cyangwa mu birenge. Kubabara. Kubura ubushobozi bwo kubika. Gukomera mu maso. Guhinduka k'ubuhanga cyangwa cataracte. Imihango. Uburwayi bw'umutwe. Ubu bwoko bubiri bwa Schwannomatosis busanzwe bugira ingaruka ku bantu nyuma y'imyaka 20. Ibimenyetso bikunze kugaragara hagati y'imyaka 25 na 30. SMARCB1- na LZTR1-bifitanye isano na Schwannomatosis bishobora gutera ukura kw'ibibyimba ku mitsi yo mu bwonko, umugongo n'amaso. Ibibyimba bishobora kandi gukura ku mitsi yo ku mpande iherereye hanze y'ubwonko n'umugongo. Ibimenyetso bya SMARCB1- na LZTR1-bifitanye isano na Schwannomatosis birimo: Kubabara igihe kirekire, bishobora kuba ahantu hose mu mubiri kandi bishobora gutera ubumuga. Kubabara cyangwa kunanirwa mu bice bitandukanye by'umubiri. Gutakaza imitsi, bizwi nka atrophy. Ubu bwoko bwa Schwannomatosis bushobora kandi gutera ukura kw'ibibyimba mu gutwi. Ariko bibaho gake, kandi ibibyimba bikunze gukura mu gutwi rimwe gusa. Ibi bitandukanye na NF2, itera ukura kw'ibibyimba mu matwi yombi. Kubw'ibyo, abantu bafite SMARCB1- na LZTR1-bifitanye isano na Schwannomatosis ntabwo bagira igihombo cy'umva kimwe n'abantu bafite NF2. Reba umuganga niba ufite ibimenyetso bya Schwannomatosis. Nubwo nta muti uhari, ingaruka zishobora kuvurwa.

Jya kwa muganga niba ufite ibimenyetso bya schwannomatosis. Nubwo nta muti uraboneka, ingaruka mbi zishobora kuvurwa.

Schwannomatosis iterwaho n'impamvu ihindura gene. Igenamiterere ry'impyiko zihariye biterwa n'ubwoko: Schwannomatosis ifitanye isano na NF2 (NF2). Gene ya NF2 ikora poroteyine yitwa merlin, izwi kandi nka schwannomin, ihagarika udukoko. Impamvu ihindura gene itera kubura kwa merlin, bigatuma uturemangingo twakura tudafite uburyo bwo kubigenzura. Schwannomatosis ifitanye isano na SMARCB1 na LZTR1. Kugeza ubu, hari impyiko ebyiri zizwi ko ziterwa n'izo ngaruka za schwannomatosis. Impinduka z'impyiko za SMARCB1 na LZTR1, zihangana n'indwara, zifitanye isano n'izo ndwara.

Mu ndwara iterwa na gene imwe ikomoka ku babyeyi, gene yahindutse ni gene nyamukuru. Iherereye kuri imwe mu ntera zidafite aho zihuriye n'igitsina, zizwi nka autosomes. Gene imwe gusa yahindutse irakenewe kugira ngo umuntu azagwe muri ubu bwoko bw'uburwayi. Umuntu ufite uburwayi bwa autosomal dominant—muri uru rugero, se—afite amahirwe 50% yo kubyara umwana urwaye ufite gene imwe yahindutse na 50% yo kubyara umwana udahwaye.

Gene itera schwannomatosis rimwe na rimwe irazwa na umubyeyi. Icyago cyo kuzaragwa gene gitandukanye bitewe n'ubwoko bwa schwannomatosis.

Ku bantu hafi kimwe cya kabiri bafite schwannomatosis ifitanye isano na NF2 (NF2), bahawe gene yahindutse ikomoka ku mubyeyi yateye indwara. NF2 ifite imiterere yo kuzaragwa ya autosomal dominant. Ibi bivuze ko umwana wese w'umubyeyi urwaye iyo ndwara afite amahirwe 50% yo kugira gene yahindutse. Abantu bafite NF2 kandi abavandimwe babo batarwaye bishoboka ko bafite gene yahindutse nshya.

Muri schwannomatosis ifitanye isano na SMARCB1 na LZTR1, iyo ndwara ntabwo ishobora kuzaragwa cyane na umubyeyi. Abashakashatsi barabarura ko ibyago byo kuzaragwa schwannomatosis ifitanye isano na SMARCB1 na LZTR1 ukomoka ku mubyeyi urwaye ari hafi 15%.

Ingaruka mbi zishobora kubaho muri schwannomatosis, kandi zishingiye ku bwoko umuntu afite.

Ingaruka mbi za schwannomatosis ifitanye isano na NF2 (NF2) zishobora kuba:

• Kugira ikibazo cyo kumva, cyangwa kutakumva na gato.
• Gukomereka kw'umutsi wo mu maso.
• Impinduka z'ububone.
• Udukibuno duto tw'uruhu, tuzwi nka schwannomas z'uruhu.
• Kugira intege nke cyangwa uburibwe mu maguru cyangwa mu maboko.
• Kugira udukibuno twinshi tw'ubwonko cyangwa tw'umugongo, tuzwi nka meningiomas. Ibi bisaba kubagwa kenshi.

Ububabare buterwa n'ubwo bwoko bwa schwannomatosis bushobora kuba bubabaza cyane. Abantu bafite ubwo bwoko bashobora kuba bakeneye kubagwa cyangwa kuvurwa n'inzobere mu kuvura ububabare.

Kugira ngo hamenyekane indwara ya schwannomatosis, umuganga atangira asuzumye amateka y'ubuzima bwawe bwite n'ubw'umuryango wawe, akanakora isuzuma ngaruka mbere. Ushobora kandi gukenera ibindi bipimo kugira ngo hamenyekane schwannomatosis ifitanye isano na NF2 (NF2) cyangwa schwannomatosis ifitanye isano na SMARCB1 na LZTR1.

Ibindi bipimo birimo:

• Isuzuma ry'amaso. Isuzuma ry'amaso rishobora kugaragaza cataracte no kubura ubushobozi bwo kubona.
• Isuzuma ry'umva n'uburinganire. Ibi birimo ikizamini gipima ubumenyi bw'amajwi (audiometry) n'ikizamini gipima ubushobozi bwo kuringanira hakurikiwe imiterere y'amaso, bizwi nka electronystagmography. Ikindi kizamini kipima ubutumwa bwa electrique butwara amajwi kuva mu gutwi ryo hagati kugera mu bwonko, bizwi nka brain stem auditory evoked response.
• Isuzuma rishingiye ku mashusho. X-rays, CT scans cyangwa MRIs bishobora gufasha kumenya impinduka mu guhagarara kw'amagufa, imikurire mu bwonko cyangwa mu mugongo, ndetse n'imikurire mito cyane. Isuzuma rishingiye ku mashusho kandi rikoreshwa mu gukurikirana uko iyi ndwara ihagaze nyuma yo kuyimenya.
• Isuzuma rya gene. Isuzuma rya gene ntirizahora rigaragaza NF2 cyangwa schwannomatosis ifitanye isano na SMARCB1 na LZTR1 kuko hari izindi gene tutazi zishobora kuba zifitanye isano n'iyi ndwara. Ariko kandi, bamwe bahitamo gupimisha gene mbere yo kubyara.