Tide wi go tɔk bɔt wan sik we nɔ kin bɔku bɔt we rili impɔtant. Dɛn kɔl am Banyan-Riley-Ruvalcaba Syndrome, ɔ ``BRRS'' fɔ shɔt. Na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks. Dat min se na smɔl chenj we de apin na di jin dɛn na wi bɔdi kin mek i apin. dis kכndyushכn de inkrεs di risk fכ divεlכp abnכmal lכmp (``tכmכr'') na difrεn pat dεm na di bכdi. Nɔ wɔri, lɛ wi ɔndastand dis simpul wan.
Wetin na Banyan-Riley-Ruvalcaba Sindrom (BRRS)?
Fɔ tɔk am simpul wan, `(BRRS)` na wan jenɛtik kɔndishɔn . i de pan wan grup fכ sik dεm we dεn kכl `(PTEN hamartoma tumor syndrome (PHTS))`. Yu kin dɔn yɛri bak bɔt `(Cowden syndrome)`, we insɛf kin fɔdɔm insay dis `(PHTS)` kategori.
dis `(BRRS)` kכndyushכn kin kכz fכ chenj, כ m כtεshכn , insay wan jin we dεn kכl `(PTEN)` na wi bכdi. dis `(PTEN)` jin de kכntro di growth fכ wi sεl dεm, spεshal wan di prodakshכn fכ protin dεm we de kכntro di growth fכ di tכmכro dεm. so, biכs dis `(PTEN)` jin insay pכsin we gεt `(BRRS)` nכ de wok fayn, dεn sεl dεm kin gro we dεn nכ kכntro. Dis kin mek di risk fɔ gɛt hamartomas , ɛn ɔda tumbu dɛn we gɛt kansa ɛn we nɔ gɛt kansa. Apat frɔm dat, di risk fɔ gɛt sɔm kayn kansa dɛn kin bɔku bak.
pan tap dat, i kin bi se di pikin we dεn bכn in wet go bכku, di ed saiz we big pas di avεrej (macrocephaly), man in jεnitalia, εn difrεn divεlכpmεnt εn intellektual dεlay.
Wetin na ɔda nem dɛn we dɛn kin yuz fɔ `(BRRS)`?
Dɛn kin kɔl dis kɔndishɔn sɔm ɔda nem dɛn. Sɔntɛm yu dɔn yɛri wan pan dɛn nem ya:
- Riley-Smith sindrom we gɛt di sik
- Ruvalcaba-Myhre sindrom we gɛt di sik
- Ruvalcaba-Myhre-Smith sindrom we gɛt di sik
- Bannayan-Zonana sindrom we gɛt di sik
Aw kɔmɔn dis `(BRRS)` kɔndishɔn?
E tranga fɔ tɔk bɔt aw dis sik kin kam, bikɔs de sik kin difrɛn frɔm pɔrsin to ɔda pɔrsin. Sɔm pan di sayn dɛm wae de sho se pɔrsin nɔr kin no bɔt. Bɔt bɔku pan di wan dɛn we de stɔdi bɔt dis biliv se dis na tin we nɔ kin apin so ɔltɛm .
Wetin na di sayn dɛm fɔ `(BRRS)`?
Di sayn dɛm fɔ Bannayan-Riley-Ruvalcaba syndrome kin rili difrɛn. Sɔm pipul dɛn kin gɛt bɔrku pan dɛn kayn sik ya, ɛn ɔda wan dɛn kin gɛt sɔm pan dɛn. Lɛ wi tek wan luk pan de men sayn dɛm wae yu kin si:
- Fɔ gɛt ay wet ɛn lɔng we dɛn bɔn am .
- ed we big pas nכmal (macrocephaly).
- fכ si spat dεm (pigmented macules) na di jεnital εria fכ di bכy pikin dεm.
- Lak fɔ di mɔsul dɛn (hypotonia). Imajin, we yu pik pikin, di an ɛn fut dɛn kin fil lɛk se i dɔn lɔs smɔl.
- Divεlכpmεnt fכ di tכk εn/כ mכtalman skil dεmDivɛlɔpmɛnt dilɛys.
- Dis kin afɛkt lɛk 50% pan pipul dɛm wae gɛt disabled intɛlektual disabiliti (BRRS).
- Autism spectrum disorder (`(Autism spectrum disorder)`) - Dɛn dɔn si se lɛk 20% pan di pikin dɛm we gɛt ɔtizm gɛt muteshon na di `(PTEN)` jin.
- Di mɔsul dɛn we wik .
- Hamartomas na nכn kεnsar, abnכmal growth fכ sεl dεm εn tisu dεm na di intestines.
- Jɔyn dɛn we kin chenj pasmak .
- Seizures we tan lɛk epilepsy (`(seizures)`).
- Pεktus excavatum - dis na kכndishכn we di midul pan di chεst bon de sכnk insay.
- Skɔliosis we dɛn kɔl .
- Acanthosis nigricans (`(Acanthosis nigricans)`) - di skin de dak na di fold dεm na di bכdi εn εria dεm lεk di εlbo, nεk, εn כda tin dεm.
- fεt tכmכro dεm (lipomas) we de divεlכp כnda di skin.
- Lump dεm we nכ gεt kεnsar we dεn mek wit fεt εn blכd vεsεl dεm (angiolipomas).
- spat dεm we lεk bכtmak (hεmangiomas) we de fכm frכm di kכlekshכn fכ εkstra bכdi vεsul dεm כnda di skin.
Mɛmba se nɔto ɔlman gɛt ɔl dɛn kwaliti dɛn ya. Sɔm pipul dɛn kin jɔs gɛt sɔm pan dɛn.
Wetin na di tin dɛm we de mek `(BRRS)`?
Tu men rizin de we mek dis ``(BRRS)`` kɔndishɔn kin apin:
1. Wan muteshon na yu `(PTEN)` jin. (Dis na di tin we kin mek pɔsin gɛt dis sik.)
2. big dilit fכ di jεnεtik mεtirial we inklud כl כ pat pan yu `(PTEN)` jin. (Dis kin apin pan lɛk 10% pan di kes dɛm.)
as wi bin dכn tכk bכt, yu PTEN jin de mek wan protin we de kכntro di tכmכro dεm we de gro. If dis jin nɔ de ɔ i nɔ de wok fayn, yu sɛl dɛn kin bigin fɔ sheb we yu nɔ ebul fɔ kɔntrol. Dis kin mek yu gɛt hamartomas ɛn ɔda tumbu dɛn we gɛt kansa ɛn we nɔ gɛt kansa.
כltu, di masta sabi pipul dεm stil nכ no εksεkεt aw di mכtεshכn dεm na di PTEN jin de mek כda simptom dεm fכ BRRS, lεk makrosεfali (big ed), mכsul εn bon dεm we nכ de nכmal, εn divεlכpmεnt εn intellektual dεlay.
`(BRRS)` de pas frɔm jɛnɛreshɔn to jɛnɛreshɔn?
Yes, mama ɛn papa kin pas di kɔndishɔn `(BRRS)` to dɛn pikin dɛn. dis dεn kכl am `(autosomal dominant inheritance )`. Fɔ tɔk am simpul wan, if ɛni wan pan di mama ɛn papa gɛt wan kɔpi fɔ di mutated `(PTEN)` jin, dɛn pikin gɛt 50% chans fɔ gɛt di kɔndishɔn.
Aw fɔ no `(BRRS)`?
If dɔktɔ sɔspɛkt se yu kin gɛt BRRS, dɛn go mɔs ɔda fɔ mek dɛn du jenɛtik tɛst fɔ di PTEN jin.I fayn fɔ mek dɛn tɛst di jɛnɛtiks. Dis involv wan prכsεs we dεn kכl jin sikεns. Dis min se dɛn kin chɛk ɔl pat pan di jin fɔ si if ɛni chenj ɔ chenj de.
Dis `(PTEN)` test na rili akchual. if yu dכkta fכnd wan `(PTEN)` jin mכtεshכn, dεn kin kכnfכm wit 100% sכri fכ se yu gεt `(BRRS)`. כltu, na כnli 60% pan di pipul dεm we gεt `(BRRS)` simptom dεm gεt wan dεtektabl jin mכtεshכn. Dis min se lɛk 40% pan di pipul dɛm we gɛt `(BRRS)` simptom kin gɛt nɔmal tɛst rizɔlt. If yu intres fɔ gɛt tɛst fɔ `(PTEN)`, tɔk to yu dɔktɔ.
Aw dɛn kin trit `(BRRS)`?
Nɔ patikyula tritmɛnt nɔ de fɔ ``(BRRS)''. Bifo dat, tritmɛnt fɔ Bannayan-Riley-Ruvalcaba syndrome involv fɔ kɔntrol yu spɛshal sayn ɛn sayn dɛm .
Pipul wae gɛt BRRS fɔ gɛt skrinin ɔltɛm fɔ difrɛn kayn kansa, ilɛksɛf dɛn gɛt sɔm sayn dɛm ɔ nɔr gɛt am. Dɔktɔ dɛn se pipul dɛn we dɛn dɔn no se gɛt PTEN jin muteshɔn fɔ fala di skrinin gaydlayn fɔ Cowden syndrome. Dis inklud fɔ chɛk fɔ dɛn kansa ya:
- Brɔst kansa
- Kansa na di uterin
- Tayrɔyd kansa
- Kidni kansa
Jɛnɛtik kɔyl kin rili ɛp fɔ pipul dɛn we gɛt BRRS. Famili mɛmba dɛm we nɔ sho di simptom dɛm fɔ BRRS fɔ tɛst bak fɔ di PTEN jin fɔ no if dɛnsɛf fɔ fala di gaydlayn dɛm fɔ chɛk kansa bak.
Obshɔbishɔn Gaydlain fɔ `(BRRS)`
Sɔm patikyula sɔvɛlayshɔn gaydlain dɛn de fɔ ɛni kayn kansa, inklud ustɛm fɔ bigin fɔ tɛst. Nɔto ɔl di kansa dɛn kin bigin fɔ tɛst di sem tɛm we dɛn no di sik - i kin dipen pan di pɔsin in ej we dɛn no di sik.
Fɔ pipul dɛn we nɔ rich 18 ia yet , dɔktɔ dɛn kin tɛl dɛn fɔ du dɛn tin ya:
- Annual tayroyd ɔltrasɔund frɔm di ej 7.
- Wan ɛni ia ɛgzam fɔ di bɔdi wit wan ɛgzam fɔ di skin .
- Wan nyurodivɛlɔpmɛnt ɛvalueshɔn .
- Dɛn nid fɔ du ɛmoglobin tɛst ɛvri ia fɔ no di intestinal hamartomas kwik kwik wan.
Yu tink se dɛn kin mek dɛn nɔ gɛt BRRS?
Nɔ, dɛn nɔ go ebul fɔ stɔp BRRS. Na wan jenɛtik kɔndishɔn we kin kam bikɔs ɔf wan jin we de chenj. Pipul wae gɛt BRRS kin gɛt jɛnɛtik kɔyl. Dis kin ɛp dɛn fɔ disayd di rayt tin bɔt wɛlbɔdi biznɛs ɛn fɔ bɔn pikin dɛn.
Wetin a kin ɛkspɛkt if a gɛt `(BRRS)`?
Di prɔgnosis fɔ pɔrsin wae gɛt BRRS kin difrɛn bad bad wan frɔm pɔrsin to ɔda pɔrsin. Sɔm pipul dɛn kin gɛt smɔl sayn ɛn sayn dɛm - ɔda wan dɛn kin gɛt smɔl ɔ nɔr kin gɛt sɔm kayn sayn dɛm at ɔl. Bɔrku manejmɛnt opshɔn de fɔ pipul dɛm wae gɛt BRRS wae kin ɛp fɔ impɔtant dɛn ɔl kwaliti fɔ liv. Sɔm ɛgzampul dɛn na fɔ trit yu bɔdi fayn ɛn fɔ trit yu tɔk .
As wi bin dɔn tɔk, pipul dɛn we gɛt ``(BRRS)`` fɔ de skan ɔltɛm fɔ difrɛn kayn kansa. Aks yu dɔktɔ ustɛm yu fɔ bigin fɔ chɛk yu ɛn aw ɔltɛm yu fɔ gɛt dɛn.
Bannayan-Riley-Ruvalcaba Sindrom ɛn Layf Ɛkspɛktɛns
Risach pipul dɛn nɔ dɔn no yet di avɛrej layf we pipul dɛn we gɛt BRRS kin liv. Infakt, no pruf nɔ de fɔ sho se pipul dɛn we gɛt BRRS kin liv shɔt layf. Bɔt pipul dɛm wae gɛt BRRS kin gɛt bɔrku risk fɔ gɛt sɔm kayn kansa wae dɛn yɔŋ. Fɔ dis rizin, sɔm pipul dɛn kin gɛt shɔt layf bikɔs ɔf kansa.
Ustɛm a fɔ go to mi dɔktɔ?
If yu klos famili mɛmba dɛm (fɔ ɛgzampul, brɔda ɛn sista dɛm, mama ɛn papa, ɔ pikin dɛm) gɛt `(BRRS)`, yu fɔ aks yu dɔktɔ bɔt `(PTEN)` jenɛtik tɛst. `(PTEN)` test kin fכnכt if yu gεt `(PTEN)` jin mכtεshכn εn if dεn fכ skrεn yu כltεm fכ sכm kεnsar dεm.
If dɛn no se yu ɔ yu pikin gɛt BRRS, yu dɔktɔ go wok wit yu fɔ kɔntrol di sik dɛn we yu gɛt ɛn fɔ mek yu layf bɛtɛ. Dɛn go tɛl yu bak aw ɔltɛm yu fɔ gɛt kansa skrinin.
Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?
If yu ɔ pɔsin we yu lɛk gɛt BRRS, na sɔm kwɛstyɔn dɛn ya yu kin aks yu dɔktɔ:
- Yu tink se `(PTEN)` jin mכtεshכn de we dεn kin dεtekt insay mi כ mi pikin?
- Ɛni sayn ɛn sayn dɛn de we de sho klia wan?
- Yu tink se a fɔ du tɛst fɔ mi jɛnɛtiks?
- Yu tink se dɛn fɔ du tɛst fɔ di wan dɛn we de nia mi famili bak?
- Aw dis kin afɛkt di we aw wi de plan fɔ famili?
- Us tritmɛnt ɔ manejmɛnt opshɔn dɛn yu kin advays?
- Aw ɔltɛm a fɔ gɛt kansa skrinin tɛst?
Mɛsej we dɛn kin kɛr go na os
Bannayan-Riley-Ruvalcaba syndrome (BRRS) na wan rεr jεnεtik kכndyushכn we kכz fכ wan mכtεshכn na yu PTEN jin. Di sayn dɛm kin difrɛn bad bad wan, ɛn kin kɔmɔt frɔm smɔl to siriɔs. Nɔr patikyula tritmɛnt nɔr de fɔ BRRS, bɔt di men tritmɛnt na fɔ mɛn di simptom dɛm. I impɔtant fɔ mek pipul dɛn we gɛt BRRS de chɛk ɔltɛm fɔ sɔm kayn kansa, lɛk bɔdi, uterin, tayroyd, ɛn kidni kansa.
Fɔ tɔk to kɔstɔma ɔr soshal woka kin rili ɛp fɔ dil wit de filin wae kin kam wae pɔrsin gɛt dis sik lɛk dis. Yu kin jɔyn bak wan lokal ɔ ɔnlayn sɔpɔt grup fɔ mit ɔda pipul dɛn we dɔn go tru di sem kayn ɛkspiriɛns. Nɔ wɔri, nɔto yu wan de. If yu gi yu fayn mɛrɛsin ɛn sɔpɔt yu, yu kin ebul fɔ kɔntrol dis sik ɛn liv gud layf.
👩🏽 ⚕️ Ɔda kwɛstyɔn dɛn (FAQ dɛn)
💬 Wetin na di sik we dɛn kɔl Bannayan-Riley-Ruvalcaba Syndrome (BRRS)?
Dis na wan sik we nɔ kin apin so ɔltɛm, we pɔsin kin gɛt frɔm in mama ɛn papa (jɛnɛtik/PTEN jin muteshɔn). insay dis, di tכmכro dεm we nכ de du bad (hamartomatous polyps) de bigin fכ fכm wan ples afta di כda wan, spεshal wan na di intestin (bכwel) εn di intestin. Nɔto dat nɔmɔ, bɔt dɛn kin si bɔku big chenj dɛn na di pikin dɛn we gɛt dis sik in an ɛn fut.
💬 Wetin na di patikyula ekstenal simptom dɛm fɔ dis sik?
Dɛn kin bɔn pikin we gɛt dis sik wit in ed we nɔrmal (macrocephaly). Di pikin sɛf kin wet mɔ. insay di kes fכ bכy pikin, yu kin si spat εn spat (freckles) pan di penis. along wit dis, dεn kin si fכ tru fכ di mכsul dεm wik εn divεlכpmεnt delay.
💬 Pikin dεm we gεt dis sεndrכm kin gεt kεnsar?
Yɛs! di sem jin mכtεshכn (PTEN) we de mek dis sik de afekt כda siriכs kεnsar (Cowden syndrome) bak. So, dɛn sik pipul ya fɔ rili du mandatory screening fɔ brɔst kansa, tayroyd kansa, ɛn uterin kansa ɛvri ia we dɛn rich big pɔsin.
` Bannayan-Riley-Ruvalcaba Syndrome, BRRS, PTEN jin, hamartoma, jεnεtik dizכrd, kεnsar risk, makrosεfali, divεlכpmεnt dilay, jεnεtik sik, kεnsar risk, divεlכpmεnt dilay
💬 Comments (0)
No kɔmɛnt nɔ de yet. Ad yu kɔmɛnt ya fɔ di fɔs tɛm.
Ad yu kɔmɛnt