Ngaba kukho umntu kusapho lwakho onale mpawu? Makhe sithethe ngeBannayan-Riley-Ruvalcaba Syndrome (BRRS)

Namhlanje siza kuthetha ngemeko engaqhelekanga kodwa ebaluleke kakhulu. Ibizwa ngokuba yiBanyan-Riley-Ruvalcaba Syndrome, okanye ``BRRS'' ngamafutshane. Yimeko yemfuza. Oko kukuthi, ibangelwa lutshintsho oluncinci kwiijini emizimbeni yethu. Le meko yonyusa umngcipheko wokufumana amaqhuma angaqhelekanga (``tumors'') kwiindawo ezahlukeneyo zomzimba. Ungakhathazeki, masiyiqonde le nto ngokulula.

Yintoni iBanyan-Riley-Ruvalcaba Syndrome (BRRS)?

Ngamafutshane, `(BRRS)` yimeko yemfuza . Ikwiqela lezifo ezibizwa ngokuba yi`(PTEN hamartoma tumor syndrome (PHTS))`. Usenokuba ukhe weva nge`(Cowden syndrome)`, ekwawela kolu didi lwe`(PHTS)`.

Le meko ye-`(BRRS)` idla ngokubangelwa lutshintsho, okanye utshintsho , kwi-gene ebizwa ngokuba yi-`(PTEN)` emzimbeni wethu. Le gene ye-`(PTEN)` ilawula ukukhula kweeseli zethu, ingakumbi ukuveliswa kweeproteni ezilawula ukukhula kwee-tumor. Ngoko ke, ngenxa yokuba le gene ye-`(PTEN)` kumntu one-`(BRRS)` ayisebenzi kakuhle, iiseli zabo zinokukhula ngendlela engalawulekiyo. Oku kwandisa umngcipheko wokufumana ii-hamartomas , kunye nezinye ii-tumor ezinomhlaza nezingengomhlaza. Ukongeza, umngcipheko wokufumana iintlobo ezahlukeneyo zomhlaza nawo uyanda.

Ukongeza, kunokubakho ubunzima bokuzalwa obunyukileyo, ubukhulu bentloko obungaphezulu komndilili (i-macrocephaly), amalungu esini samadoda, kunye nokulibaziseka okuhlukeneyo kokukhula kunye nengqondo.

Ngawaphi amanye amagama asetyenziswa kwi-`(BRRS)`?

Le meko ibizwa ngamanye amagama aliqela. Usenokuba ukhe weva elinye lala magama:

• Isifo sikaRiley-Smith
• Isifo sikaRuvalcaba-Myhre
• I-Ruvalcaba-Myhre-Smith syndrome
• Isifo seBannayan-Zonana

Ixhaphake kangakanani le meko `(BRRS)`?

Kunzima ukutsho ukuba le meko ixhaphake kangakanani, kuba iimpawu zahlukile kakhulu kumntu nomntu. Ezinye zeempawu azicacanga kangako. Nangona kunjalo, uninzi lwabaphandi lukholelwa ukuba le yimeko engaqhelekanga kakhulu .

Zithini iimpawu ze-`(BRRS)`?

Iimpawu zesifo sikaBannayan-Riley-Ruvalcaba zahlukene kakhulu. Abanye abantu banokuba nezi mpawu ezininzi, ngelixa abanye banokuba nazo ezimbalwa kuphela. Makhe sijonge iimpawu eziphambili ezinokubonwa:

• Ukuba nobunzima obuphezulu nobude obuphezulu bokuzalwa .
• Intloko enkulu kuneqhelekileyo (i-macrocephaly).
• Ukubona amabala (ii-macules ezinemibala) kwindawo yesini yamakhwenkwe.
• Ukungabikho kwemisipha (hypotonia). Khawuthelekelele, xa uthatha umntwana, amalungu omzimba azive ekhululekile kancinci.
• Uphuhliso lwezakhono zokuthetha kunye/okanye zokunyakazaUkulibaziseka kophuhliso.
• Oku kunokuchaphazela malunga nama-50% abantu abakhubazekileyo ngokwengqondo (BRRS).
• Isifo se-Autism spectrum (`(Autism spectrum disorder)`) - Kufunyenwe ukuba malunga nama-20% abantwana abane-autism banotshintsho kwi-gene ye-`(PTEN)`.
• Ubuthathaka bemisipha .
• I-Hamartomas zizinto ezingezizo ezomhlaza, ezikhula ngendlela engaqhelekanga kwiiseli kunye nezicubu emathunjini.
• Amalungu aguquguqukayo .
• Ukuxhuzula okufana nokuxhuzula (`(ukuxhuzula)`).
• I-Pectus excavatum - Le yimeko apho ithambo eliphakathi kwesifuba litshona ngaphakathi.
• I-Scoliosis .
• I-Acanthosis nigricans (`(Acanthosis nigricans)`) - Ubumnyama besikhumba kwiindawo ezigobileyo zomzimba nakwiindawo ezifana neengqiniba, intamo, njl.njl.
• Iithumba ezinamafutha (ii-lipomas) ezikhula phantsi kolusu.
• Amaqhuma angengomhlaza enziwe ngamafutha kunye nemithambo yegazi (ii-angiolipomas).
• Amabala afana neempawu zokuzalwa (i-hemangiomas) avela kwingqokelela yemithambo yegazi engaphezulu phantsi kolusu.

Khumbula, ayinguye wonke umntu onazo zonke ezi mpawu. Abanye abantu basenokuba nazo ezimbalwa kuphela.

Zithini izizathu ze-`(BRRS)`?

Kukho izizathu ezibini eziphambili zokuba le meko ``(BRRS)`` ivele:

1. Utshintsho kwijini yakho ye-`(PTEN)`. (Le yeyona nto ixhaphakileyo.)

2. Ukususwa okukhulu kwezinto zemfuza ezibandakanya yonke okanye inxalenye yemfuza yakho ye-`(PTEN)`. (Oku kwenzeka malunga ne-10% yamatyala.)

Njengoko besikhe sathetha ngaphambili, i-PTEN gene yakho yenza iproteni elawula ukukhula kweethumba. Ukuba le gene ayikho okanye ayisebenzi kakuhle, iiseli zakho ziqala ukwahlukana ngendlela engalawulekiyo. Oku kuphumela kwi-hamartomas kunye nezinye iithumba ezinomhlaza nezingengomhlaza.

Nangona kunjalo, iingcali azikayazi kakuhle indlela utshintsho kwi-PTEN gene olubangela ngayo ezinye iimpawu ze-BRRS, ezifana ne-macrocephaly (intloko enkulu), ukungasebenzi kakuhle kwemisipha namathambo, kunye nokulibaziseka kokukhula kunye nengqondo.

Ngaba `(BRRS)` idlula kwizizukulwana ngezizukulwana?

Ewe, abazali banokudlulisela imeko ethi `(BRRS)` kubantwana babo. Oku kubizwa ngokuba yi `(autosomal dominant inheritance )`. Ngamafutshane, ukuba omnye wabazali unekopi enye ye-`(PTEN)` eguquliweyo, umntwana wabo unethuba le-50% lokufumana le meko.

Ungayichonga njani `(BRRS)`?

Ukuba ugqirha ukrokrela ukuba unokuba ne-BRRS, kusenokwenzeka ukuba baya kuyalela uvavanyo lwemfuza lwe-PTEN gene.Uvavanyo lwemfuza luyacetyiswa. Oku kubandakanya inkqubo ebizwa ngokuba yi-gene sequencing. Oku kuthetha ukuba yonke inxalenye yemfuza iyahlolwa ukuze kubonwe ukuba kukho naluphi na utshintsho okanye utshintsho.

Olu vavanyo lwe-`(PTEN)` luchanekile kakhulu. Ukuba ugqirha wakho ufumana utshintsho lwe-`(PTEN)`, banokuqinisekisa ngokuqinisekileyo ukuba unayo i-`(BRRS)`. Nangona kunjalo, yi-60% kuphela yabantu abaneempawu ze-`(BRRS)` abanotshintsho lwe-gene olubonakalayo. Oku kuthetha ukuba malunga ne-40% yabantu abaneempawu ze-`(BRRS)` banokuba neziphumo zovavanyo eziqhelekileyo. Ukuba unomdla wokuvavanya i-`(PTEN)`, thetha nogqirha wakho.

Iphathwa njani i-`(BRRS)`?

Akukho nyango luthile lwe-``(BRRS)''. Endaweni yoko, unyango lwe-Bannayan-Riley-Ruvalcaba syndrome lubandakanya ukulawula iimpawu zakho ezikhethekileyo .

Abantu abane-BRRS kufuneka bahlolwe rhoqo iintlobo ezahlukeneyo zomhlaza, nokuba baneempawu okanye abanazo. Oogqirha bacebisa ukuba abantu abafunyenwe benokuguqulwa kwezakhi zofuzo ze-PTEN balandele izikhokelo zokuhlolwa kweCowden syndrome. Oku kuquka ukuhlolwa kwezi cancer:

• Umhlaza webele
• Umhlaza wesibeleko
• Umhlaza we-thyroid
• Umhlaza wezintso

Ingcebiso ngezofuzo iluncedo kakhulu kubantu abane-BRRS. Amalungu osapho angabonakalisi zimpawu ze-BRRS nawo kufuneka avavanywe i-PTEN gene ukuze kubonwe ukuba afanele na ukulandela izikhokelo zovavanyo lomhlaza .

Izikhokelo Zokuqwalasela `(BRRS)`

Kukho izikhokelo ezithile zokujonga uhlobo ngalunye lomhlaza, kuquka nokuba luqalwe nini uvavanyo. Ayizizo zonke iintlobo zomhlaza eziqala ukuvavanywa ngaxeshanye nokuxilongwa - kuxhomekeke kwiminyaka yomntu ekuxilongweni kwakhe.

Kubantu abangaphantsi kweminyaka eli-18 ubudala , oogqirha banokucebisa:

• I-ultrasound yonyaka ye-thyroid ukususela kwiminyaka esi-7 ubudala.
• Uvavanyo lomzimba lonyaka kunye novavanyo lolusu .
• Uvavanyo lophuhliso lwe-neurological .
• Uvavanyo lwe-hemoglobin lonyaka luyafuneka ukuze kufunyanwe i-hamartomas yamathumbu kwangethuba.

Ngaba i-BRRS ingathintelwa?

Hayi, i-BRRS ayinakuthintelwa. Yimeko yemfuza ebangelwa kukuguquka kwezakhi zofuzo. Abantu abane-BRRS banokufumana iingcebiso ngezakhi zofuzo. Oku kunokubanceda benze izigqibo ezinolwazi malunga nokhathalelo lwempilo kunye nokuba nabantwana.

Ndingalindela ntoni ukuba ndine `(BRRS)`?

Ingqikelelo yomntu one-BRRS yahluka kakhulu kumntu nomntu. Abanye abantu basenokuba neempawu ezimbalwa - abanye basenokuba neempawu ezimbalwa okanye bangabi nazo kwaphela. Kukho iindlela ezininzi zokulawula ezifumanekayo kubantu abane-BRRS ezinokunceda ukuphucula umgangatho wobomi babo bonke. Imizekelo ibandakanya unyango lomzimba kunye nonyango lokuthetha .

Njengoko bekutshiwo ngaphambili, abantu abane-``(BRRS)`` kufuneka bahlolwe rhoqo iintlobo ezahlukeneyo zomhlaza. Buza ugqirha wakho ukuba kufuneka uqale nini ukuvavanya kwaye kufuneka uyenze kangaphi loo nto.

Isifo sikaBannayan-Riley-Ruvalcaba kunye nolindelo lobomi

Abaphandi abakayifumani i-avareji yobomi babantu abane-BRRS. Enyanisweni, akukho bungqina bubonisa ukuba abantu abane-BRRS baphila ubomi obufutshane. Nangona kunjalo, abantu abane-BRRS basengozini enkulu yokuhlaselwa ziintlobo ezithile zomhlaza besebancinci. Ngenxa yesi sizathu, abanye abantu banokuba nobomi obufutshane ngenxa yomhlaza.

Ndifanele ndimbone nini ugqirha wam?

Ukuba amalungu osapho lwakho asondeleyo (umzekelo, abantakwenu, abazali, okanye abantwana) bane-`(BRRS)`, kufuneka ubuze ugqirha wakho malunga novavanyo lwemfuza lwe-`(PTEN)`. Uvavanyo lwe-`(PTEN)` lunokufumanisa ukuba ngaba une-`(PTEN)` yokuguqulwa kwemfuza kunye nokuba kufuneka uhlolwe rhoqo na umhlaza othile.

Ukuba wena okanye umntwana wakho nifunyaniswe ukuba nine-BRRS, ugqirha wakho uza kusebenzisana nani ukulawula iimpawu zenu nokuphucula umgangatho wobomi benu. Baza kukuxelela nokuba kufuneka nihlolwe umhlaza kangaphi.

Ndingayibuza yiphi imibuzo ugqirha wam?

Ukuba wena okanye umntu omthandayo ufunyaniswe ene-BRRS, nantsi eminye imibuzo onokuyibuza ugqirha wakho:

• Ngaba kukho utshintsho lwezakhi zofuzo olubonakalayo kum okanye kumntwana wam?
• Ngaba kukho naziphi na iimpawu ezicacileyo?
• Ngaba kufuneka ndifumane uvavanyo lwemfuza?
• Ngaba amalungu osapho lwam asondeleyo kufuneka nawo avavanywe ngokwemfuza?
• Oku kuyichaphazela njani indlela yokucwangcisa usapho?
• Zeziphi iindlela zonyango okanye zolawulo ozicebisayo?
• Ndifanele ndifumane kangaphi uvavanyo lomhlaza?

Umyalezo Wokuya Ekhaya

I-Bannayan-Riley-Ruvalcaba syndrome (BRRS) yimeko engaqhelekanga yemfuza ebangelwa kukuguquka kwezakhi zofuzo kwi-PTEN gene yakho. Iimpawu zinokwahluka kakhulu, kwaye zinokuqala kwezincinci ukuya kwezinzima. Akukho nyango luthile lwe-BRRS, kodwa unyango oluphambili kukulawula iimpawu. Kubalulekile ukuba abantu abane-BRRS bahlolwe rhoqo iintlobo ezithile zomhlaza, kubandakanya umhlaza webele, wesibeleko, we-thyroid, kunye nomhlaza wezintso.

Ukuthetha nomcebisi okanye unontlalontle kunokuba luncedo kakhulu ekusingatheni iimvakalelo eziza nokuxilongwa ngolu hlobo. Ungajoyina iqela lenkxaso lasekuhlaleni okanye elikwi-intanethi ukuze udibane nabanye abaye badlula kumava afanayo. Ungakhathazeki, awuwedwa. Ngeengcebiso zonyango ezifanelekileyo kunye nenkxaso, unokuyilawula le meko kwaye uphile ubomi obuhle.

Isifo sikaBannayan -Riley-Ruvalcaba, i-BRRS, i-PTEN gene, i-hamartoma, isifo semfuza, umngcipheko womhlaza, i-macrocephaly, ukulibaziseka kophuhliso, isifo semfuza, umngcipheko womhlaza, ukulibaziseka kophuhliso