Ingabe ukhona emndenini wakho onalezi zimpawu? Ake sixoxe nge-Bannayan-Riley-Ruvalcaba Syndrome (BRRS)

Namuhla sizokhuluma ngesimo esingavamile kodwa esibaluleke kakhulu. Sibizwa ngokuthi i-Banyan-Riley-Ruvalcaba Syndrome, noma "i-BRRS" ngamafuphi. Yisimo sofuzo. Okusho ukuthi, sibangelwa ushintsho oluncane kuma-gene emzimbeni wethu. Lesi simo sandisa ingozi yokuba namaqhubu angavamile (''amaqhubu'') ezingxenyeni ezahlukene zomzimba. Ungakhathazeki, ake sikuqonde kalula lokhu.

Iyini i-Banyan-Riley-Ruvalcaba Syndrome (BRRS)?

Kalula nje, `(BRRS)` yisimo sofuzo . Singeseqembu lezifo ezibizwa ngokuthi `(PTEN hamartoma tumor syndrome (PHTS))`. Kungenzeka ukuthi uke wezwa nge `(Cowden syndrome)`, nayo ewela kulesi sigaba `(PHTS)`.

Lesi simo `(BRRS)` sivame ukubangelwa ushintsho, noma ukuguquka kwezakhi zofuzo okuthiwa `(PTEN)` emzimbeni wethu. Lesi sakhi sofuzo `(PTEN)` silawula ukukhula kwamaseli ethu, ikakhulukazi ukukhiqizwa kwamaprotheni alawula ukukhula kwamathumba. Ngakho-ke, ngenxa yokuthi lesi sakhi sofuzo `(PTEN)` kumuntu one-`(BRRS)` asisebenzi kahle, amaseli abo angakhula ngendlela engalawuleki. Lokhu kwandisa ingozi yokuthola ama-hamartoma , kanye nezinye izimila ezinomdlavuza nezingewona umdlavuza. Ngaphezu kwalokho, ingozi yokuthola izinhlobo eziningana zomdlavuza nayo iyanda.

Ngaphezu kwalokho, kungase kube nokwanda kwesisindo sokuzalwa, ubukhulu bekhanda obukhulu kunobujwayelekile (i-macrocephaly), izitho zangasese zabesilisa, kanye nokubambezeleka okuhlukahlukene kokukhula nokwengqondo.

Yimaphi amanye amagama asetshenziswa ku-`(BRRS)`?

Lesi simo sibizwa ngamanye amagama amaningana. Kungenzeka ukuthi uke wezwa elinye lala magama:

• Isifo sikaRiley-Smith
• I-Ruvalcaba-Myhre syndrome
• I-Ruvalcaba-Myhre-Smith syndrome
• I-Bannayan-Zonana syndrome

Sivame kangakanani lesi simo `(BRRS)`?

Kunzima ukusho ukuthi lesi simo sivame kangakanani, ngoba izimpawu ziyahlukahluka kakhulu kumuntu nomuntu. Ezinye zezimpawu azicacile. Kodwa-ke, abacwaningi abaningi bakholelwa ukuthi lesi yisimo esingavamile kakhulu .

Ziyini izimpawu ze-`(BRRS)`?

Izimpawu ze-Bannayan-Riley-Ruvalcaba syndrome ziyahlukahluka kakhulu. Abanye abantu bangase babe neziningi zalezi zimpawu, kanti abanye bangase babe nezimbalwa kuphela. Ake sibheke izimpawu eziyinhloko ezingabonakala:

• Ukuba nesisindo nobude obuphezulu bokuzalwa .
• Ikhanda elikhulu kunelijwayelekile (i-macrocephaly).
• Ukubona amabala (ama-macule anombala) endaweni yezitho zangasese zabafana.
• Ukuntuleka kwemisipha (hypotonia). Cabanga nje, uma uthatha umntwana, izitho zomzimba zizwakala zikhululekile kancane.
• Ukuthuthukiswa kwamakhono okukhuluma kanye/noma okunyakaza komzimbaUkulibaziseka kokukhula.
• Lokhu kungathinta cishe abantu abangu-50% abanokukhubazeka kwengqondo (BRRS).
• Isifo se-Autism spectrum (`(Autism spectrum disorder)`) - Kutholakale ukuthi cishe ama-20% ezingane ezine-autism anoguquko ku-gene `(PTEN)`.
• Ubuthakathaka bemisipha .
• Ama- Hamartoma ayizimila ezingavamile zamangqamuzana nezicubu emathunjini ezingezona ezomdlavuza.
• Amalunga aguquguquka kalula .
• Ukuxhuzula okufana nesifo sokuwa (`(ukuxhuzula)`).
• I-Pectus excavatum - Lesi yisimo lapho ithambo eliphakathi kwesifuba licwiliswa ngaphakathi.
• I-Scoliosis .
• I-Acanthosis nigricans (`(Acanthosis nigricans)`) - Ubumnyama besikhumba emagobolondweni omzimba nasezindaweni ezifana nezindololwane, intamo, njll.
• Izimila ezinamafutha (ama-lipoma) ezikhula ngaphansi kwesikhumba.
• Amaqhubu angewona umdlavuza akhiwe ngamafutha nemithambo yegazi (ama-angiolipomas).
• Amabala afana nophawu lokuzalwa (ama-hemangioma) akheka ngokuqoqwa kwemithambo yegazi eyengeziwe ngaphansi kwesikhumba.

Khumbula, akuwona wonke umuntu onazo zonke lezi zimpawu. Abanye abantu bangase babe nazo ezimbalwa kuphela.

Yiziphi izimbangela ze-`(BRRS)`?

Kunezizathu ezimbili eziyinhloko zokuthi kungani lesi simo ``(BRRS)`` sivela:

1. Ukuguquka kwezakhi zofuzo zakho ze-`(PTEN)`. (Lena yimbangela evame kakhulu.)

2. Ukususwa okukhulu kwezinto zofuzo ezihlanganisa yonke noma ingxenye yofuzo lwakho lwe-`(PTEN)`. (Lokhu kwenzeka cishe ku-10% wamacala.)

Njengoba sesixoxile ngaphambili, i-PTEN gene yakho yenza iphrotheni elawula ukukhula kwezimila. Uma le gene ingekho noma ingasebenzi kahle, amaseli akho aqala ukuhlukana ngokungalawuleki. Lokhu kuphumela kuma-hamartoma kanye nezinye izimila ezinomdlavuza nezingewona umdlavuza.

Kodwa-ke, ochwepheshe abakakazi kahle ukuthi izinguquko ku-PTEN gene zibangela kanjani ezinye izimpawu ze-BRRS, njenge-macrocephaly (ikhanda elikhulu), ukukhubazeka kwemisipha namathambo, kanye nokubambezeleka kokukhula nokwengqondo.

Ingabe i-`(BRRS)` idlula isizukulwane ngesizukulwane?

Yebo, abazali bangadlulisela lesi simo `(BRRS)` ezinganeni zabo. Lokhu kubizwa ngokuthi `(autosomal dominant inheritance )`. Kalula nje, uma noma yimuphi umzali enekhophi eyodwa ye-`(PTEN)` eguquliwe, ingane yakhe inethuba elingu-50% lokuthola lesi simo njengefa.

Ungayibona kanjani i-`(BRRS)`?

Uma udokotela esola ukuthi ungaba ne-BRRS, cishe uzoyala ukuhlolwa kofuzo kwe-PTEN gene.Kunconywa ukuhlolwa kwezakhi zofuzo. Lokhu kuhilela inqubo ebizwa ngokuthi ukulandelana kwezakhi zofuzo. Lokhu kusho ukuthi yonke ingxenye yezakhi zofuzo iyahlolwa ukuze kubonakale ukuthi kukhona yini izinguquko noma izinguquko.

Lokhu kuhlolwa kwe-`(PTEN)` kunembile kakhulu. Uma udokotela wakho ethola ukuguquka kwezakhi zofuzo kwe-`(PTEN)`, angaqinisekisa ngokuqiniseka okungu-100% ukuthi une-`(BRRS)`. Kodwa-ke, abantu abangu -60% kuphela abanezimpawu ze-`(BRRS)` abanokuguquka kwezakhi zofuzo okubonakalayo. Lokhu kusho ukuthi cishe abantu abangu-40% abanezimpawu ze-`(BRRS)` bangaba nemiphumela evamile yokuhlolwa. Uma unesifiso sokuhlolwa kwe-`(PTEN)`, khuluma nodokotela wakho.

Iphathwa kanjani i-`(BRRS)`?

Akukho ukwelashwa okuqondile kwe-``(BRRS)''. Kunalokho, ukwelashwa kwe-Bannayan-Riley-Ruvalcaba syndrome kuhilela ukulawula izimpawu zakho ezihlukile .

Abantu abane-BRRS kufanele bahlolwe njalo izinhlobo ezahlukene zomdlavuza, kungakhathaliseki ukuthi banezimpawu noma cha. Odokotela batusa ukuthi abantu abatholakale benokuguqulwa kwezakhi zofuzo ze-PTEN balandele iziqondiso zokuhlolwa kwe-Cowden syndrome. Lokhu kuhlanganisa ukuhlolwa kwalezi zinhlayiya:

• Umdlavuza webele
• Umdlavuza wesibeletho
• Umdlavuza we-thyroid
• Umdlavuza wezinso

Ukwelulekwa ngofuzo kuyasiza kakhulu kubantu abane-BRRS. Amalungu omndeni angakhombisi izimpawu ze-BRRS kufanele ahlolwe nofuzo lwe-PTEN ukuze kutholakale ukuthi kufanele yini alandele iziqondiso zokuhlolwa komdlavuza .

Iziqondiso Zokuqaphela `(BRRS)`

Kuneziqondiso ezithile zokuqapha uhlobo ngalunye lomdlavuza, okuhlanganisa nokuthi kufanele uqale nini ukuhlola. Akuwona wonke umdlavuza oqala ukuhlolwa ngesikhathi esifanayo nokuxilongwa - kuya ngeminyaka yomuntu lapho ehlolwa.

Kubantu abangaphansi kweminyaka engu-18 ubudala , odokotela bangase batuse:

• I-ultrasound yonyaka ye-thyroid kusukela eminyakeni engu-7.
• Ukuhlolwa ngokomzimba kwaminyaka yonke kanye nokuhlolwa kwesikhumba .
• Ukuhlolwa kokuthuthukiswa kwemizwa .
• Kudingeka ukuhlolwa kwe-hemoglobin minyaka yonke ukuze kutholakale ama-hamartoma amathumbu kusenesikhathi.

Ingabe i-BRRS ingavinjelwa?

Cha, i-BRRS ayinakuvinjelwa. Yisimo sofuzo esibangelwa ukuguquka kwezakhi zofuzo. Abantu abane-BRRS bangathola ukwelulekwa kwezakhi zofuzo. Lokhu kungabasiza ukuba benze izinqumo ezinolwazi mayelana nokunakekelwa kwempilo kanye nokuba nezingane.

Yini engingayilindela uma ngine-`(BRRS)`?

Isibikezelo somuntu one-BRRS siyahlukahluka kakhulu kuye ngomuntu nomuntu. Abanye abantu bangase babe nezimpawu nezimpawu ezimbalwa - abanye bangase babe nezimpawu ezimbalwa noma bangabi nazo nhlobo. Kunezindlela eziningi zokuphatha ezitholakalayo kubantu abane-BRRS ezingasiza ekuthuthukiseni ikhwalithi yabo yokuphila iyonke. Izibonelo zifaka phakathi ukwelashwa ngokomzimba kanye nokwelashwa ngenkulumo .

Njengoba kushiwo ngaphambili, abantu abane-``(BRRS)`` kufanele bahlolwe njalo ngezinhlobo ezahlukene zomdlavuza. Buza udokotela wakho ukuthi kufanele uqale nini ukuhlolwa nokuthi kufanele ukwenze kangaki.

I-Bannayan-Riley-Ruvalcaba Syndrome kanye Nokulinda Ukuphila

Abacwaningi abakakaqapheli ukuthi isilinganiso sobude bokuphila kwabantu abane-BRRS singakanani. Eqinisweni, abukho ubufakazi obusikisela ukuthi abantu abane-BRRS banempilo emfushane. Kodwa-ke, abantu abane-BRRS basengozini enkulu yokuthola izinhlobo ezithile zomdlavuza besebancane. Ngenxa yalesi sizathu, abanye abantu bangase babe nempilo emfushane ngenxa yomdlavuza.

Kufanele ngimbone nini udokotela wami?

Uma amalungu omndeni wakho aseduze (isibonelo, izingane zakini, abazali, noma izingane) ene-`(BRRS)`, kufanele ubuze udokotela wakho mayelana nokuhlolwa kwezakhi zofuzo kwe-`(PTEN)`. Ukuhlolwa kwe-`(PTEN)` kungathola ukuthi une-`(PTEN)` yokuguqulwa kwezakhi zofuzo nokuthi kufanele yini uhlolwe njalo ukuze uthole umdlavuza othile.

Uma wena noma ingane yakho nitholakala nine-BRRS, udokotela wakho uzosebenza nawe ukuze aphathe izimpawu zakho futhi athuthukise ikhwalithi yempilo yakho. Bazokutshela nokuthi kufanele uhlolwe kangaki umdlavuza.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Uma wena noma othandekayo wakho kutholakale ukuthi une-BRRS, nansi eminye imibuzo ongayibuza udokotela wakho:

• Ingabe kukhona ukuguquka kwezakhi zofuzo okubonakalayo `(PTEN)` kimi noma enganeni yami?
• Ingabe zikhona izimpawu nezimpawu ezisobala?
• Ingabe kufanele ngihlolwe izakhi zofuzo?
• Ingabe amalungu omndeni wami aseduze nawo kufanele ahlolwe izakhi zofuzo?
• Lokhu kukuthinta kanjani ukuhlela umndeni?
• Yikuphi ukwelashwa noma izindlela zokuphatha ozincomayo?
• Kufanele ngihlolwe kangaki umdlavuza?

Umlayezo Wokuya Nawe Ekhaya

I-Bannayan-Riley-Ruvalcaba syndrome (BRRS) yisimo esingavamile sofuzo esibangelwa ukuguquka kwezakhi zofuzo zakho ze-PTEN. Izimpawu zingahluka kakhulu, futhi zingaba zimbi kakhulu. Akukho ukwelashwa okuqondile kwe-BRRS, kodwa ukwelashwa okuyinhloko ukuphathwa kwezimpawu. Kubalulekile ukuthi abantu abane-BRRS bahlolwe njalo izinhlobo ezithile zomdlavuza, okuhlanganisa umdlavuza webele, wesibeletho, we-thyroid, kanye nowezinso.

Ukukhuluma nomeluleki noma isisebenzi sezenhlalakahle kungaba usizo kakhulu ekubhekaneni nemizwa ehambisana nokuthola ukuxilongwa okufana nalokhu. Ungajoyina neqembu lokusekela lendawo noma eliku-inthanethi ukuze uhlangane nabanye abake badlula ezimweni ezifanayo. Ungakhathazeki, awuwedwa. Ngeseluleko sezokwelapha esifanele kanye nokusekelwa, ungaphatha lesi simo futhi uphile impilo enhle.

I - Bannayan-Riley-Ruvalcaba Syndrome, i-BRRS, i-PTEN gene, i-hamartoma, isifo sofuzo, ingozi yomdlavuza, i-macrocephaly, ukubambezeleka kokukhula, isifo sofuzo, ingozi yomdlavuza, ukubambezeleka kokukhula