Wetin na di sik we dɛn kɔl McCune-Albright Syndrome? Lɛ wi tɔk bɔt am!

Wi ɔl bisin bɔt wi pikin dɛn wɛlbɔdi, nɔto so? Sɔntɛnde, na nɔmal tin fɔ fil smɔl fɔ fred we wi notis smɔl chenj dɛn na wi pikin dɛn bɔdi we wi nɔ de ɛkspɛkt. Sɔntɛm na brawn spat na di skin, ɔ smɔl chenj na di bon divɛlɔpmɛnt, ɔ ivin sɔntin lɛk pikin we de kam insay puberty bifo tɛm pas aw dɛn bin de tink. Dɛn nɔr kin siriɔs ɔltɛm, bɔt sɔmtɛm dɛn kin bi sayn fɔ wan sik wae nɔr kin bɔrku pan jɛnɛtiks. Wan pan dɛn kayn tin ya we nɔ kin apin so ɔltɛm, bɔt we fayn fɔ no bɔt, we wi go tɔk bɔt tide na McCune-Albright Syndrome.

Wetin na di sik we dɛn kɔl McCune-Albright Syndrome?

Fɔ tɔk am simpul wan, di sik we dɛn kɔl McCune-Albright syndrome na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks. I kin mɔs afɛkt pikin in bon dɛn, in skin, ɛn in ɛndokrin sistɛm, ɔ di gland dɛn we de mek ɔmon . di kכndyushכn kin mek tin dεm lεk ska na di bon tisu (we wi kכl ``fibrous dysplasia''). I kin mek bak spɛshal spat (pigmɛnt) na di skin, ɛn sɔm gland dɛn we de kɔntrol di gro kin wok pasmak.

Yu fɔ mɛmba se sɔm pikin dɛn nɔ kin afɛkt dis sik lɛk aw i kin afɛkt, wit di sayn dɛn we nɔ kin rili at. Bɔt fɔ ɔda pipul dɛn, i kin rili bad, sɔntɛnde i kin ivin put dɛn layf pan denja. So i impɔtant fɔ no bɔt dis.

Udat dɛn dis kayn tin kin afɛkt mɔ?

McCune-Albright syndrome na di rizɔlt fɔ wan nyu jenɛtik muteshɔn . Dis min se i nɔto sɔntin we mama ɛn papa gɛt frɔm in pikin dɛn. Wi nɔ kin ebul fɔ tɔk ustɛm ɛn aw dɛn jɛnɛtik muteshon ya go apin. כltεm, dis jεnεtik mכtεshכn de apin afta kכnsepshכn/fεtilayzεshכn, we pikin de bכn insay di mama in bεlε, bikoz fכ wan mistek we di sεl dεm de sheb εn rεplikshכn.

Mɛmba dis: Dis jɛnɛtik muteshon nɔ de kɔmɔt frɔm ɛnitin we di mama ɛn papa du ɔ nɔ du we dɛn gɛt bɛlɛ. So nɔ wɔri bɔt am.

Aw dis sik kin kɔmɔn?

Fɔ tru, di sik we dɛn kɔl McCune-Albright syndrome na wan sik we nɔ kin apin so ɔltɛm. Ɔlsay na di wɔl, dɛn se dis sik kin apin pan lɛk wan pan ɛvri ɔndrɛd tawzin ɔ wan milyɔn pikin dɛn we dɛn bɔn . So, i nɔ rili bi sɔntin we dɛn kin si bɔku tɛm.

Aw di sik we dɛn kɔl McCune-Albright Syndrome kin afɛkt pikin in bɔdi?

Dis sik kin afɛkt pikin in bɔdi difrɛn we dɛn. spεshal wan, i kin afekt di bon dεm we de gro εn di wok we di εndokrin sistεm (hכmon sistεm) de du, we kin afekt di pikin in ayt εn wet .

כlso, yu kin notis difrεn brawn spat dεm na yu pikin in skin (dεn kכl dεm ``café-au-lait spot''). Wan ɔda impɔtant tin na dat sɔm pikin dɛnSho sayn dɛm fɔ puberty we i rili yɔŋ.

If yu fil se yu pikin de gɛt prɔblɛm fɔ gro ɛn divɛlɔp nɔmal wan bikɔs ɔf dɛn sik ya, i rili impɔtant fɔ go to dɔktɔ wantɛm wantɛm. Di dɔktɔ go gi yu pikin tritmɛnt plan we go ɛp yu fɔ kɔntrol di sik dɛn.

Wetin na di sayn dɛm wae de sho se yu gɛt McCune-Albright Syndrome?

di sayn dεm fכ dis kכndyushכn dεn kin si mכtalman na di bon dεm, di skin, εn di εndokrin sistεm (hכmon sistεm) . Bɔt dɛn sik ya nɔ kin apia di sem we ɔ wit di sem kayn we aw i kin tranga pan ɛvri pikin. Dɛn kin difrɛn frɔm wan pikin to ɔda pikin.

Bɔn simptom dɛn

di men εn mכst kכmכn fכ dis kכndyushכn we de kכmכt wit bon na wan kכndyushכn we dεn kכl ``fibrous dysplasia.'' Fɔ tɔk am simpul wan, dis na we ska tisu de gro insay di bon dεm insted fכ hεlty bon tisu. So, as di pikin de gro, di say dεm we dis fayv tisu de wik. Dis kin mek di bon dɛn brok, ɔ di bon dɛn kin gro ɔltɛm ɛn nɔ fayn . dipכnt pan di nכmba כf bon dεm we dεn afekt, dis ``fibrous dysplasia'' kכndyushכn kin bi sכm pipul dεm εn i kin tranga pan כda pipul dεm.

כda tin na, rili rεli, we min se lεs dan 1% pan di pipul dεm we gεt dis kכndyushכn, dis ``fibrous dysplasia`` kin mek kansa bon lεsin/tכmכr. I rili rare, bɔt i fayn fɔ no bɔt.

Ɔda sayn dɛn we gɛt fɔ du wit bon na:

• Asimetrik divεlכpmεnt fכ di fes bon dεm.
• Bon pen ɛn diskɔmfɔt.
• I nɔ izi fɔ waka ɔ muv (Lɔs fɔ muv).
• Sik dεm we de mek di bon dεm wik, lεk `Rickets` כ `osteomalacia`.
• Skɔliosis we de mek pɔsin gɛt sik.
• Short ayt.
• di bon dεm na di lεg dεm nכ de divεlכp ivin (dis kin mek yu waka wit limp).

Di sayn dɛn we pɔsin kin si na di skin

Sɔm pikin dɛn we dɛn bɔn wit McCune-Albright syndrome gɛt skin pigmɛnt we difrɛn frɔm ɔda say dɛn na dɛn skin. Dɛn spat ya kin kɔmɔt frɔm layt brawn to dak brawn . Dɛn gɛt bɔda dɛn bak we gɛt jag. Dɛn kɔl dɛn tin ya kafe-au-lait ples dɛn. Dɛn kin jɔs apia na wan say na di bɔdi. As di pikin de gro, dεn spat dεm ya kin kכmכt mכr εn i kin bכku.

Di simptom dɛm fɔ di ɛndokrin sistɛm

dis kכndyushכn kin afekt di pikin in εndokrin sistεm, di sistεm fכ gland dεm we de mek כmon dεm. Dis kin mek pikin dɛn sho sayn dɛn we de sho se dɛn dɔn yɔŋ we dɛn rili yɔŋ . Na di gyal pikin dɛn mɔ kin bigin fɔ gɛt mɔnt we dɛn ol tu ia.dis kin apin biכs di sist dεm na dεn ovaria de mek εstrojen we pasmak, we na uman sεks כmon. Bɔy pikin dɛnsɛf kin gɛt dɛn fɔs sayn dɛn ya we de sho se dɛn dɔn yɔŋ.

Na lɛk 50% pan di pipul dɛm wae gɛt McCune-Albright syndrome gɛt tayroyd gland we dɔn big . We di tayroyd gland big, i de mek tumɔs tayroyd ɔmon. Dɛn kɔl dis sik we dɛn kɔl haypa tayroyd. Dis kin mek yu gɛt sɔm sayn dɛn lɛk we yu at de bit kwik kwik wan, yu de swet pasmak, yu blɔd prɛshɔn go ɔp, ɛn yu de lɔs yu wet .

Ɔda simptom dɛm we gɛt fɔ du wit di ɛndokrin sistɛm na:

• di pituitary gland we de mek di hכmon dεm we de mek di pikin gro pasmak. Dis kin mek di an ɛn fut dɛn big, di fes kin rawnd, ɛn/ɔ tin dɛn we tan lɛk at at sik (akromegaly).
• di adrenal gland dεm de mek tu mכch pan di strεs כmon kכtisol. Dis kin mek yu gɛt wan sik we dɛn kɔl Cushing’s syndrome, we kin mek yu fat ɛn nɔ de gro fayn.

Wetin na di rizin fɔ dis?

McCune-Albright sεndrכm de kכz bay wan mכtεshכn na di GNAS1 jin. di GNAS1 jin de prodyuz protin dεm we de kכntro di כmon aktiviti. So, we mכtεshכn de insay dis jin, wan εnzym we dεn kכl adenylate cyclase (we na protin bak) de bigin fכ mek tu mכch כmon. Dat na de kɔz fɔ dɛn sik ya.

di imכtant tin na dat dis jεnεtik mכtεshכn de apin afta di pikin bכn na di mama in bεlε (somatic mutation). Dat min se dis nɔto kɔndishɔn we di mama ɛn papa gɛt frɔm di pikin to di pikin. Dis nɔto bikɔs ɔf ɛni fɔlt we di mama ɔ di papa gɛt, ɔ sɔntin we dɛn du ɔ nɔ du we dɛn gɛt bɛlɛ. Dɔn bak, nɔrbɔdi nɔr dɔn pruv se pɔrsin wae gɛt McCune-Albright syndrome gɛt pikin wae gɛt di sem sik. di ekzak rizin fכ dis ``somatic mutation`` dεn nכ fכnshכn yet. Risach dɔn sho se dɛn tin ya na tin dɛn we kin apin wantɛm wantɛm.

Aw dɛn kin no dis sik?

Dɛn kin no bɔt di sik we dɛn kɔl McCune-Albright syndrome we dɛn smɔl. dכkta go egzamin di pikin εn luk fכ di εndokrin sistεm abnכmaliti, skin lεsin lεk ``café-au-lait spot'' εn ``fibrous dysplasia''. Bɔku tɛm dɛn kin no di sik afta dɛn dɔn notis sayn dɛn we de sho se pɔsin dɔn yɔŋ ɔ we di bon nɔ de gro fayn .

Us kayn tɛst dɛn kin du fɔ dis?

Test fɔ no dis sik na:

• bכdi tεst dεm: Chεk di wok we di εndokrin sistεm (hכmon sistεm) de du.
• Tɛst fɔ di jɛnɛtiks:No di jenɛtik mutation wae de kɔz yu symptoms. Dis kin involv fɔ tek smɔl sampul (bayopsi) pan di skin ɔ ɔda tisu ɛn tɛst am.
• Imej tɛst: Dɛn kin du tɛst lɛk ɛkstrem rayt fɔ chɛk di bon dɛn we de gro.

Aw dɛn kin trit am?

Di tritmɛnt fɔ McCune-Albright syndrome kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. No mɛrɛsin nɔ de fɔ di sik. Di men gol fɔ tritmɛnt na fɔ ridyus ɛn kɔntrol di sayn dɛm.

Dɛn kin du dɛn tin ya as tritmɛnt:

• Di mɛrɛsin fɔ di prɔblɛm dɛn we de mek di bon gro, lɛk bisphosphonates, de ridyus di risk fɔ mek di bon brok.
• Mεdikeshכn dεm fכ kכntrכl di εli puberty, fכ egzampl, aromatase inhibitors.
• Mεdikeshכn fכ di kכndyushכn `haypa tayroyd`, fכ egzampl `antitayroyd`.
• Fizik tɛrapi ɛn ɔkupeshɔn tɛrapi de fɔ di prɔblɛm dɛn we gɛt fɔ du wit di we aw pɔsin de muv.
• Ɔpreshɔn fɔ prɔblɛm dɛn we gɛt fɔ du wit di bon dɛn we de gro, mɔ di fibrous dysplasia.

A kin ridyus di risk fɔ mek mi pikin gɛt dis sik?

As wi bin dɔn tɔk bifo tɛm, di sik we dɛn kɔl McCune-Albright syndrome kin kam bikɔs ɔf wan nyu jɛnɛtik muteshon. So, natin nɔ de we wi go du fɔ mek i nɔ apin.

If yu de op fɔ gɛt pikin, i go fayn fɔ mek yu tɔk to yu dɔktɔ bɔt aw fɔ advays yu bɔt yu jɛnɛtiks fɔ no if yu de pan denja fɔ gɛt ɔda sik dɛn we yu gɛt wit yu jɛnɛtiks. Bɔt dis patikyula sik, we na McCune-Albright syndrome, nɔto sɔntin we dɛn kin ebul fɔ avɔyd bifo tɛm.

If mi pikin gɛt dis sik, wetin a fɔ ɛkspɛkt?

Di prɔgnosis fɔ yu pikin dipen pan aw di sik siriɔs. Bɔt, bɔku pipul dɛn de liv nɔmal layf. Yu mɛdikal tim go ɛp yu fɔ fɛn di bɛst tritmɛnt fɔ ɛp fɔ mek yu pikin in sik nɔ bɔku ɛn fɔ mek i nɔ fil fayn.

Yu pikin kin shɔt smɔl pas ɔda pipul dɛn we ol bikɔs di plet dɛn we de gro kin lɔk kwik bikɔs i kin bigin fɔ bɔn kwik kwik wan. Bɔt if dɛn no di sik ɛn trit am kwik, chans de fɔ mek dɛn chenj ya we pɔsin kin gɛt we i de bɔn pikin kin delay.

I rili impɔtant fɔ kip trak fɔ yu pikin in divɛlɔpmɛnt maylston dɛm so dat yu go mek shɔ se yu pikin de divɛlɔp fayn fayn wan.

Na smɔl risk de fɔ mek yu gɛt kansa frɔm dis sik, so i impɔtant fɔ kɛr yu pikin go fɔ mek dɛn chɛk yu pikin ɔltɛm.

Na mɔtalman uman dɛn we gɛt McCune-Albright syndrome kin gɛt mɔ risk fɔ gɛt bɔdi kansa we dɛn dɔn ol pas aw dɛn kin ol, so i impɔtant fɔ tɔk to yu dɔktɔ bɔt dis ɛn gɛt tɛst dɛn we dɛn kin tɛl yu fɔ du.

Ustɛm a fɔ go to dɔktɔ?

Si dɔktɔ if yu pikin gɛt sɔm sayn dɛm fɔ McCune-Albright syndrome. Fɔ ɛgzampul:

• Nɔr kin rɛst bɔrku tɛm, yu kin du tin pasmak, yu kin vɛks kwik kwik wan, ɛn yu nɔ kin ebul fɔ slip (dɛn tin ya kin bi sayn dɛm fɔ hapa tayroydism).
• di chenj dεm na di shep fכ di bon dεm bikoz fכ di abnכmaliti dεm we di bon dεm de gro.
• I nɔ izi fɔ waka.
• Menstrueshɔn kin bigin we i rili yɔŋ.
• Bɔku pen na di bon dɛn.

Sɔntin yu nɔ plan! If yu tink se yu pikin gɛt bon we brok (e.g., pen, swel, nɔ ebul fɔ muv ɔ bia wet, brus), go na imejensi rum wantɛm wantɛm.

Us kwɛstyɔn dɛn yu fɔ aks di dɔktɔ?

We yu no se yu pikin gɛt dis sik, i go fayn fɔ aks di dɔktɔ kwɛstyɔn dɛn lɛk dɛn wan ya:

• Mi pikin nid mɛrɛsin fɔ mek i nɔ gɛt bɛtɛ sik?
• Yu tink se dɛn go nid ɔpreshɔn fɔ mi pikin fɔ gɛt fibrous dysplasia?
• Ɛni bad bad tin dɛn de we kin apin to di mɛrɛsin dɛn we dɛn kin gi mi pikin fɔ kɔntrol di sik dɛn we i kin gɛt?

Fɔ no se yu pikin gɛt wan sik we nɔ kin apin so ɔltɛm we i kam pan in jɛnɛtiks, dat kin rili tranga fɔ nyu mama ɛn papa dɛn. Bɔt mɛmba se if yu no di sik kwik kwik wan ɛn trit yu pikin, dat kin ɛp fɔ bia wit di sik dɛn. Yu dɔktɔ kin tɛl yu bak fɔ go to pɔsin we de advays yu bɔt yu jɛnɛtiks, we sabi bɔt jɛnɛtiks. Dɛn kin ɛp yu fɔ ɔndastand de diagnosis bɛtɛ ɛn gi yu de sɔpɔt wae yu nid pan aw pɔrsin de fil. Dɛn kin gayd yu bak pan di tin dɛn we yu kin du fɔ ɛp yu pikin fɔ liv fayn layf ɛn fɔ gɛt gladi at.

Impɔtant tin dɛn fɔ mɛmba (Take-Home Message) .

McCune-Albright syndrome na wan sik wae nɔr kin bɔrku, bɔt kin bi siriɔs jenɛtik kɔndishɔn.

• Dis kin afɛkt di bon dɛn, di skin, ɛn di ɔmon sistɛm .
• Di men sayn dɛm na fibrous dysplasia (ska tisu na di bon dɛm), café-au-lait spat (brawn spat na di skin), ɛn we pɔsin kin bɔn kwik kwik wan.
• Dis nɔto sɔntin we mama ɛn papa dɛn gɛt; na nyu jεnεtik mכtεshכn we de apin.
• Pan ɔl we dɛn nɔ gɛt kɔmplit mɛrɛsin, gud tritmɛnt dɛn de fɔ kɔntrol di sik dɛn.
• Fɔ no di sik kwik kwik wan ɛn fɔ trit am, ɛn fɔ de wach di mɛrɛsin ɔltɛm, rili impɔtant.
• Nɔto yu wan de; aks fɔ sɔpɔt frɔm dɔktɔ ɛn pipul dɛn we de advays yu bɔt yu jɛnɛtiks.

A op se dis infɔmeshɔn dɔn ɛp yu fɔ ɔndastand sɔm kayn tin bɔt dis kɔndishɔn. Mɛmba se if yu gɛt ɛni dawt, nɔ ɛva shem fɔ tɔk to dɔktɔ.

` McCune-Albright Syndrome, jεnεtik sik, bon sik, fayv displasia, skin spat, café-au-lait spat, כmon prכblεm, εli puberty, fayv dysplasia, café-au-lait spat, εndokrin sistεm