Pane mumwe munhu mumhuri yako ane zviratidzo izvi here? Ngatikurukurei nezveBannayan-Riley-Ruvalcaba Syndrome (BRRS)

Nhasi tichataura nezvechirwere chisingawanzoitiki asi chakakosha zvikuru. Chinonzi Banyan-Riley-Ruvalcaba Syndrome, kana kuti "BRRS" muchidimbu. Ichirwere chemajini. Kureva kuti, chinokonzerwa nekuchinja kudiki kwemajini mumuviri wedu. Chirwere ichi chinowedzera njodzi yekuva nemapundu asina kujairika (''mabundu'') muzvikamu zvakasiyana-siyana zvemuviri. Musazvidya mwoyo, ngatinzwisisei izvi zviri nyore.

Chii chinonzi Banyan-Riley-Ruvalcaba Syndrome (BRRS)?

Zvichitaurwa zviri nyore, `(BRRS)` chirwere chinokonzerwa nemajini . Chiri muboka rezvirwere zvinonzi `(PTEN hamartoma tumor syndrome (PHTS))`. Ungave wakambonzwawo nezve `(Cowden syndrome)`, iyo inowirawo muchikamu ichi `(PHTS)`.

Dambudziko iri rekuti `(BRRS)` rinowanzo kukonzerwa nekuchinja, kana kuti kuchinja , mujini rinonzi `(PTEN)` mumuviri wedu. Iri `(PTEN)` jini rinodzora kukura kwemasero edu, kunyanya kugadzirwa kwemapuroteni anodzora kukura kwebundu. Saka, nekuti `(PTEN)` jini iri mumunhu ane `(BRRS)` harishande nemazvo, masero avo anogona kukura zvisingadzoreki. Izvi zvinowedzera njodzi yekubatwa nehamartomas , pamwe nemamwe mabundu ane kenza uye asiri kenza. Pamusoro pezvo, njodzi yekubatwa nemarudzi akasiyana-siyana ekenza inowedzerawo.

Pamusoro pezvo, panogona kunge paine huremu hwakakwira hwekuzvarwa, hukuru hwemusoro hwakakura kupfuura avhareji (macrocephaly), nhengo dzepabonde dzevarume, uye kunonoka kwakasiyana-siyana kwekukura nepfungwa.

Ndeapi mamwe mazita anoshandiswa pa `(BRRS)`?

Dambudziko iri rinodanwa nemamwe mazita akati wandei. Ungave wakambonzwa rimwe remazita aya:

• Riley-Smith chirwere
• Ruvalcaba-Myhre syndrome
• Ruvalcaba-Myhre-Smith syndrome
• Chirwere cheBannayan-Zonana

Dambudziko iri rekuti `(BRRS)` rakajairika zvakadii?

Zvakaoma kutaura kuti chirwere ichi chakajairika zvakadii, nekuti zviratidzo zvinosiyana zvikuru kubva pamunhu kusvika pamunhu. Zvimwe zvezviratidzo izvi hazvinyatsooneki. Zvisinei, vaongorori vazhinji vanotenda kuti ichi chirwere chisingawanzoitiki .

Ndezvipi zviratidzo zve `(BRRS)`?

Zviratidzo zvechirwere cheBannayan-Riley-Ruvalcaba zvakasiyana-siyana. Vamwe vanhu vanogona kunge vaine zviratidzo izvi zvakawanda, vamwe vachingova nezvishoma. Ngatitarisei zviratidzo zvikuru zvinogona kuonekwa:

• Kuva nehuremu hwakakura uye kureba kwenguva refu .
• Musoro wakakura kupfuura wakajairika (macrocephaly).
• Kuona mavanga (mapule ane pigmented) munzvimbo yepabonde yevakomana.
• Kushaikwa kwetsinga (hypotonia). Fungidzira, paunotora mwana, nhengo dzemuviri dzinonzwa dzakasununguka zvishoma.
• Kuvandudza hunyanzvi hwekutaura uye/kana hunyanzvi hwekufamba netsokaKunonoka kukura kwemwana.
• Izvi zvinogona kukanganisa vanhu vanosvika 50% vane hurema hwepfungwa (BRRS).
• Dambudziko reAutism spectrum (`(Autism spectrum disorder)`) - Zvakawanikwa kuti vana vanosvika 20% vane autism vane shanduko mujini re`(PTEN)`.
• Kushaya simba kwetsandanyama .
• Hamartomas imhando yemasero nenyama muura zvisina kenza, zvinokura zvisina kujairika.
• Majoini anochinjika zvakanyanya .
• Kubatwa nepfari kwakafanana nepfari (`(pfari)`).
• Pectus excavatum - Ichi chirwere apo pakati pepfupa rechipfuva panopinda mukati.
• Kurwara kwemusoro (scoliosis ).
• Acanthosis nigricans (`(Acanthosis nigricans)`) - Kusviba kweganda munzvimbo dzakapetwa dzemuviri nenzvimbo dzakadai semagokora, mutsipa, nezvimwewo.
• Matumbu ane mafuta (lipomas) anokura pasi peganda.
• Mapundu asina kenza anoumbwa nemafuta netsinga dzeropa (angiolipomas).
• Mavara akafanana nemavara ekuzvarwa (hemangiomas) anobuda kubva mumitsipa yeropa iri pasi peganda.

Yeuka kuti havasi vese vane hunhu uhwu. Vamwe vanhu vanogona kunge vaine hushoma hwacho.

Ndezvipi zvinokonzera `(BRRS)`?

Pane zvikonzero zviviri zvikuru nei mamiriro aya ekuti ``(BRRS)`` achiitika:

1. Kuchinja kwejini rako re `(PTEN)`. (Ichi ndicho chikonzero chinowanzoitika.)

2. Kubviswa kukuru kwezvinhu zvemajini zvinosanganisira jini rako rese kana chikamu charo (PTEN). (Izvi zvinoitika muzviitiko zvinenge gumi muzana.)

Sezvatakambokurukura, jini rako rePTEN rinogadzira puroteni inodzora kukura kwemabundu. Kana jini iri risipo kana kuti risingashande zvakanaka, masero ako anotanga kupatsanuka zvisingadzoreki. Izvi zvinoguma nehamartomas nedzimwe bundu dzine kenza uye dzisiri kenza.

Zvisinei, nyanzvi hadzisati dzaziva kuti kuchinja kwemajini ePTEN kunokonzera sei zvimwe zviratidzo zveBRRS, zvakaita semacrocephaly (musoro mukuru), kusashanda zvakanaka kwetsandanyama nemapfupa, uye kunonoka kukura kwepfungwa.

Ko `(BRRS)` inopfuura kubva kuchizvarwa kuenda kune chimwe chizvarwa here?

Ehe, vabereki vanogona kupa chirwere ichi kuvana vavo. Izvi zvinonzi `(autosomal dominant inheritance )`. Zvichitaurwa zviri nyore, kana mumwe wevabereki aine kopi imwe chete yejini re`(PTEN)` rakachinja, mwana wavo ane mukana we50% wekugara nhaka chirwere ichi.

Nzira yekuziva `(BRRS)` sei?

Kana chiremba akafungidzira kuti une BRRS, vangangoda kuti PTEN gene iongororwe .Kuongororwa kwemajini kunokurudzirwa. Izvi zvinosanganisira nzira inonzi gene sequencing. Izvi zvinoreva kuti chikamu chega chega chejini chinoongororwa kuti chionekwe kana paine shanduko kana shanduko.

Bvunzo iyi ye`(PTEN)` yakarurama kwazvo. Kana chiremba wako akawana shanduko yemajini ye`(PTEN)`, vanogona kusimbisa nechivimbo che100% kuti une`(BRRS)`. Zvisinei, 60% chete yevanhu vane zviratidzo zve`(BRRS)` vane shanduko yemajini inoonekwa. Izvi zvinoreva kuti vanhu vanosvika 40% vane zviratidzo zve`(BRRS)` vanogona kunge vaine mhinduro dzakajairwa dzebvunzo. Kana uchida kuongororwa `(PTEN)`, taura nachiremba wako.

`(BRRS)` inorapwa sei?

Hapana mushonga chaiwo we "(BRRS)". Pane kudaro, kurapwa kwechirwere cheBannayan-Riley-Ruvalcaba kunosanganisira kugadzirisa zviratidzo zvako zvakasiyana .

Vanhu vane BRRS vanofanira kuongororwa marudzi akasiyana-siyana ekenza nguva nenguva , vangave vaine zviratidzo kana kuti kwete. Vanachiremba vanokurudzira kuti vanhu vakaonekwa vaine PTEN gene mutation vatevedzere gwara rekuongorora Cowden syndrome. Izvi zvinosanganisira kuongororwa magomarara aya:

• Kenza yemazamu
• Kenza yechibereko
• Kenza yethyroid
• Kenza yeitsvo

Kupa mazano ezvemajini kunobatsira zvikuru kune vanhu vane BRRS. Nhengo dzemhuri dzisingaratidze zviratidzo zveBRRS dzinofanirawo kuongororwa jini rePTEN kuti vaone kana vachifanirawo kutevedzera nhungamiro dzekuongorora kenza .

Nhungamiro dzeKucherechedza dze `(BRRS)`

Kune gwara rekutarisa mhando yega yega yegomarara, kusanganisira nguva yekutanga kuongororwa. Haasi magomarara ese anotanga kuongororwa panguva imwe chete yekuongororwa - zvinoenderana nezera remunhu panguva yekuongororwa.

Kune vanhu vari pasi pemakore gumi nemasere ekuberekwa , vanachiremba vanogona kukurudzira:

• Kuongororwa kweultrasound kwegore negore kwe thyroid kubva pazera remakore manomwe.
• Kuongororwa kwemuviri kwegore negore pamwe chete nekuongororwa kweganda .
• Kuongororwa kwekuvandudzwa kwetsinga dzeuropi .
• Kuongororwa kwe hemoglobin kwegore negore kunodiwa kuti uone hamartoma yemudumbu nekukurumidza.

Ko BRRS inogona kudzivirirwa here?

Kwete, BRRS haigone kudzivirirwa. Idambudziko remajini rinokonzerwa nekuchinja kwemajini. Vanhu vane BRRS vanogona kupiwa mazano emajini. Izvi zvinogona kuvabatsira kuita sarudzo dzine ruzivo nezveutano uye kuva nevana.

Chii chandingatarisira kana ndiine `(BRRS)`?

Kufanotaura kwemunhu ane BRRS kunosiyana zvikuru kubva pamunhu nemunhu. Vamwe vanhu vanogona kunge vasina zviratidzo zvakawanda - vamwe vanogona kunge vasina zviratidzo zvachose. Kune nzira dzakawanda dzekutarisira dziripo kuvanhu vane BRRS dzinogona kubatsira kuvandudza hupenyu hwavo hwese. Mienzaniso inosanganisira physiotherapy uye kutaura .

Sezvambotaurwa, vanhu vane ``(BRRS)`` vanofanira kuongororwa nguva nenguva kuti vaone mhando dzakasiyana dzegomarara. Bvunza chiremba wako kuti unofanira kutanga kuongororwa riini uye kuti unofanira kuvaongorora kangani.

Chirwere cheBannayan-Riley-Ruvalcaba uye Kutarisira Kurarama

Vaongorori havasati vaona avhareji yehupenyu hwevanhu vane BRRS. Kutaura zvazviri, hapana humbowo hunoratidza kuti vanhu vane BRRS vane nguva pfupi yekurarama. Zvisinei, vanhu vane BRRS vari panjodzi yakakura yekubata mamwe marudzi ekenza vachiri vadiki. Nekuda kweizvi, vamwe vanhu vanogona kunge vaine nguva pfupi yekurarama nekuda kwekenza.

Ndinofanira kuona chiremba wangu rini?

Kana nhengo dzemhuri yako yepedyo (semuenzaniso, vanun'una, vabereki, kana vana) vaine `(BRRS)`, unofanira kubvunza chiremba wako nezvekuongororwa kwemajini kwe`(PTEN)`. Kuongororwa kwe`(PTEN)` kunogona kuona kana uine `(PTEN)` gene mutation uye kana uchifanira kuongororwa nguva nenguva kuti uwane mamwe magomarara.

Kana iwe kana mwana wako mukaonekwa kuti mune BRRS, chiremba wenyu achashanda nemi kuti agadzirise zviratidzo zvenyu uye agadzirise hupenyu hwenyu. Vachakuudzaiwo kuti munofanira kuongororwa kenza kangani.

Mibvunzo ipi yandinofanira kubvunza chiremba wangu?

Kana iwe kana mumwe munhu waunoda akaonekwa kuti ane BRRS, heano mimwe mibvunzo yaunogona kubvunza chiremba wako:

• Pane here kuchinja kwemajini kunoonekwa (PTEN)` mandiri kana mwana wangu?
• Pane zviratidzo zviri pachena here?
• Ndofanira kuongororwa majini here?
• Vemhuri yangu yepedyo vanofanirawo kuongororwa majini here?
• Izvi zvinokanganisa sei kuronga mhuri?
• Ndedzipi nzira dzekurapa kana dzekutarisira dzamunokurudzira?
• Ndinofanira kuongororwa kenza kangani?

Mharidzo Yekuenda Nayo Kumba

Chirwere cheBannayan-Riley-Ruvalcaba (BRRS) chirwere chisingawanzoitika chinokonzerwa nekuchinja kwemajini ako ePTEN. Zviratidzo zvinogona kusiyana zvakanyanya, uye zvinogona kubva pazvishoma kusvika zvakanyanya. Hapana mushonga chaiwo weBRRS, asi mushonga mukuru ndewokugadzirisa zviratidzo. Zvakakosha kuti vanhu vane BRRS vaongororwe nguva nenguva mhando dzekenza, kusanganisira kenza yemazamu, chibereko, thyroid, uye itsvo.

Kutaura nemupi wezano kana mushandi wezvemagariro evanhu kunogona kubatsira zvikuru mukubata nemanzwiro anouya nekuwana chirwere chakadai. Unogona zvakare kubatana neboka rekutsigira remunharaunda kana online kuti usangane nevamwe vakambosangana nezviitiko zvakafanana. Usanetseke, hausi wega. Nemazano akakodzera ekurapa nerutsigiro, unogona kugadzirisa dambudziko iri uye kurarama hupenyu hwakanaka.

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