Yu tink se difrɛns de na yu smɔl pikin in yay? Yu tink se na di sik we dɛn kɔl Axenfeld-Rieger Syndrome?

Di gladi at we yu kin gɛt we yu luk pikin we dɛn jɔs bɔn, nɔ go ebul fɔ ɛksplen am, nɔto so? Bɔt sɔmtɛm, e nɔrmal fɔ fil smɔl frayd wae yu si difrɛns na dɛn smɔl smɔl yay dɛm, ɔr pan ɔda smɔl smɔl tin dɛm. Na dat mek i impɔtant fɔ no bɔt sɔm tin dɛn we nɔ kin apin so ɔltɛm.

Wetin na di sik we dɛn kɔl Axenfeld-Rieger?

Okay, so lɛ wi tɔk bɔt Axenfeld-Rieger syndrome. Fɔ tɔk am simpul wan, dis na tin we nɔ kin apin we pɔsin kin gɛt we i kam pan jɛnɛtiks . Dat min se na wan chenj we de apin na di pikin in jin dɛn kin mek i apin. I kin afɛkt di pikin dɛn yay mɔ. Bɔt sɔmtɛm i kin afɛkt di divɛlɔpmɛnt fɔ ɔda pat dɛn na di bɔdi apat frɔm di yay. Trade, dɛn bin de kɔl dis bak Axenfeld anomaly.

Dɔktɔ dɛn kin no dis sik we dɛn bɔn pikin ɔ we di sayn dɛn bigin fɔ sho. I kin kam bikɔs yu pikin in jin, ɔ DNA sikyud chenj. dipכnt pan aw Axenfeld-Rieger syndrome de afekt di pikin in yay, i kin afekt di vishכn. Dɔn bak, ɔda prɔblɛm dɛn we kin apin na di yay kin kam as tɛm de go. Bɔrku tɛm, dis sik kin afɛkt ɔl tu di yay dɛm. di impɔtant tin na dat, pas af pan di pikin dɛn we gɛt Axenfeld-Rieger syndrome go gɛt wan sik we dɛn kɔl glaukoma sɔm tɛm na dɛn layf.

Di kayn tritmɛnt we yu pikin nid go dipen pan di sayn dɛm fɔ Axenfeld-Rieger syndrome ɛn aw dɛn tranga. As yu pikin de ol, dɛn go nid fɔ chɛk in yay ɔltɛm fɔ wach di chenj dɛn we de apin na in yay. Yu spɛshal pɔsin we de kia fɔ yu yay ɔ yu pikin in dɔktɔ go tɛl yu aw ɔltɛm yu fɔ du dɛn ɛgzam ya.

Wetin na di difrɛns bitwin Axenfeld-Rieger syndrome ɛn Aniridia?

Naw yu kin de wɔnda wetin na di difrɛns bitwin Axenfeld-Rieger syndrome ɛn ɔda sik we dɛn kɔl Aniridia. Dɛn tu tin ya na tin dɛn we dɛn bɔn wit , we min se dɛn kin de we dɛn bɔn am, ɛn dɛn ɔl tu kin afɛkt di pikin in yay.

Aniridia na, fɔ tɔk am simpul wan, di absɛns ɔf di kɔlɔ pat na di yay, di ayris. Sɔm pikin dɛn kin dɔn mis dis ayris kpatakpata, ɛn ɔda wan dɛn kin dɔn mis sɔm pat pan dɛn.

כltu, Axenfeld-Rieger syndrome de mεntal afekt di antεriכr chεmba na di yay. Dɔn bak, i nɔ jɔs afɛkt di lens. As wi bin dɔn tɔk, i kin afɛkt bak aw ɔda pat dɛn na di bɔdi de gro. Dɛn kin no dɛn tu tin ya we dɛn bɔn am. If yu notis ɛni chenj na yu pikin in yay ɔ in yay, mek shɔ se yu go to dɔktɔ we sabi bɔt di yay.

Aw dis sik kin kɔmɔn?

Axenfeld-Rieger syndrome na wan sik wae nɔr kin bɔrku. Na lɛk wan pan ɛvri 200,000 pikin dɛn nɔmɔ we dɛn kin bɔn ɛvri ia, i kin afɛkt. So bɔku pipul dɛn nɔ go dɔn yɛri bɔt am.

Wetin na di sayn dɛm fɔ Axenfeld-Rieger syndrome?

Dɛn kin sheb di sayn dɛm fɔ Axenfeld-Rieger syndrome to tu men kategori dɛm:

• Ocular symptoms: Na di sayn dɛm wae kin afɛkt yu pikin in yay.
• Sεstεmik simptom dεm: Na di simptom dεm we de apin wit divεlכpmεnt כdasay na di pikin in bכdi.

Di simptom dɛm we de na di yay

Fɔs, lɛ wi si us kwaliti dɛn wi kin si we gɛt fɔ du wit di yay:

• Tin ɔ nɔ divɛlɔp ayris: di pat we gɛt kɔlɔ na di yay nɔ kin dɔn ful-ɔp.
• di pupil dεm we de kכmכt na di sεntrε: di blak pat pan di yay, di pupil, kin kכmכt sכmtεm sכmtεm.
• Prɔblɛm wit di frɔnt transparent pat na di yay (kɔnia): Sɔm prɔblɛm kin apin wit di kɔnia, we na di frɔnt pat na di yay.

Bikɔs ɔf Axenfeld-Rieger syndrome, yu pikin kin gɛt bɔku ɔda sik dɛn na in yay. Di men wan dɛn na:

• Glaukoma: Dis kin rili kɔmɔn.
• Katarakt: Katarakt .
• Koloboma: Wan pat pan di yay kin lɔs.
• Makula dijεnεreshכn: I de damej wan pat pan di rεtina.
• Strabismus (krɔs yay): Krɔs di yay.

Sistεmik simptom dεm we de afekt כda pat dεm na di bכdi

Naw lɛ wi luk di sayn dɛm wae kin afɛkt ɔda pat dɛm na di bɔdi. Dɛn tin ya nɔ kin bɔku lɛk di sayn dɛm we kin afɛkt di yay. Bɔt if yu pikin gɛt dɛn sik ya, dɛn kin bi:

• Prɔblɛm dɛn we de na di skel:
• Hypertelorism: I gɛt ay we wayd ɛn flat fes.
• Sɔntɛnde, di pikin in fɔɛd kin wayd pasmak ɛn i kin kɔmɔt bifo.
• Di sayn dɛn we pɔsin kin gɛt we i de mɛn dɛn tit:
• Sɔntɛnde, dɛn kin bɔn pikin dɛn we gɛt Axenfeld-Rieger syndrome wit smɔl tit dɛn we nɔ kɔmɔn .
• Sɔm tit dɛn kin nɔ de bak.
• Ekstra skin:
• εkstra skin fold dεm kin kam na di pikin in bεlε, nia di bεlε bכtכn .
• pan bɔy pikin, sɔmtɛm yu kin si ɛkstra skin na di ɔndasay na di penis.
• Narrow urethra ɔ anal opin dɛn.
• At prɔblɛm: Sɔntɛnde, at kin apin we dɛn bɔn am.
• Prɔblɛm dɛn we de na di pituitary gland: Sɔntɛnde pikin dɛn we gɛt Axenfeld-Rieger syndrome kin gɛt dilɛys fɔ divɛlɔp. Dis min se dɛn kin tek lɔng tɛm fɔ divɛlɔp pas ɔda pikin dɛn.

Wetin kin mek pɔsin gɛt sik we dɛn kɔl Axenfeld-Rieger?

Axenfeld-Rieger syndrome na wan sik we de mek pɔsin gɛt jɛnɛtiks . Dat min se, na frɔm mama ɛn papa dɛn kin gɛt am to pikin dɛn. Dɔktɔ dɛn kin kɔl am bak sik we dɛn bɔn wit. i kin kכz mεntal bay mכtεshכn dεm na di jin dεm FOXC1 εn PITX2. dis tu jin dεm nכmal fכ εp fכ kכntrכl di pikin in divεlכpmεnt, spεshal wan di divεlכpmεnt fכ di yay dεm, we di εmbrayo de.

Axenfeld-Rieger sεndrכm na כtosom dכminant jεnεtik kכndishכn. Fɔ tɔk am simpul wan, dis min se pikin fɔ gɛt di jin we gɛt dis muteshon frɔm wan pan dɛn mama ɛn papa nɔmɔ fɔ mek i gɛt di sik. Bɔt dis nɔ min se if yu gɛt dis muteshon na yu jin, yu pikin go mɔs gɛt Axenfeld-Rieger syndrome. Bɔt, 50% chans de fɔ mek dis apin. Fɔ no mɔ bɔt dis, tɔk to yu dɔktɔ bɔt aw fɔ gɛt kɔyl fɔ yu jɛnɛtiks.

Aw dɛn kin no se pɔsin gɛt sik we dɛn kɔl Axenfeld-Rieger syndrome? (Diagnosis) .

Yu dɔktɔ ɔ ɔftalmolɔg go bi di wan we go no se yu pikin gɛt Axenfeld-Rieger syndrome. As wi bin dɔn tɔk, if yu pikin gɛt klia prɔblɛm wit in yay ɔ ɔda pat dɛn na in bɔdi we dɛn bɔn am, dɛn kin no se i gɛt am we i bɔn am. Ɔda we de fɔ no se i gɛt am afta di pikin bigin fɔ sho di sik.

Di ɔftalmolɔg go du wan kɔmplit ay ɛgzam fɔ chɛk di pikin in yay (inklud di insay). Dɛn kin du bɔku tɛst fɔ no if yu gɛt Axenfeld-Rieger syndrome, lɛk:

• Visual acuity test: Chɛk fɔ si if di pikin in yay dɔn afɛkt.
• Gonioscopy: Chɛk fɔ si if yu gɛt glaukoma.
• DNA tεst εn Jεnεtik tεst: Chεk fכ si if di pikin gεt di jεnεtik mכtεshכn we de mek Axenfeld-Rieger syndrome.

Wetin na di tritmɛnt fɔ Axenfeld-Rieger syndrome?

Di tritmɛnt fɔ Axenfeld-Rieger syndrome de dipen pan usay yu pikin in sik de ɛn us prɔblɛm dɛn de kɔz. Tɔk to yu dɔktɔ ɔ ɔftalmɔlɔjis bɔt us tritmɛnt yu pikin nid ɛn aw ɔltɛm dɛn fɔ gɛt fɔlɔp ɛgzam fɔ wach di chenj dɛn we de apin na in yay ɛn bɔdi.

Tritmɛnt fɔ Glɔkoma

Pikin dɛm wae gɛt Axenfeld-Rieger syndrome kin gɛt bɔrku risk fɔ gɛt glaukoma, ɛn dɛn kin nid fɔ gɛt tritmɛnt fɔ am sɔm tɛm na dɛn layf.

Glaukoma na wan jenɛral nem fɔ wan grup fɔ sik dɛn we de ambɔg di yay we de pwɛl di optik nɛv. If dɛn nɔ trit am kwik, glaukoma kin mek pɔsin blaynd fɔ ɔltɛm. Bɔku tɛm, wata kin gɛda na di fɔs pat pan di yay. dis εkstra wata de mek prεshכn insay di yay (intraocular prεshכn - IOP, כ ay prεshכn), we de pwεl di optik nεv sכmtεm.

Di men tritmɛnt fɔ glaukoma na:

• Ay drɔp dɛn we gɛt mɛrɛsin.
• Laser tritmɛnt: Put wata na di yay.
• Ɔpreshɔn: Ridyus prɛshɔn.

Dɛn kin trit glaukoma fɔ kɔntrol di we aw pɔsin nɔ de si mɔ. Bɔt, dɛn nɔ go ebul fɔ gɛt bak di vishɔn we i dɔn lɔs. So, if yu pikin gɛt ɛni wan pan dɛn sayn ya we de sho se i gɛt glaukoma, i rili impɔtant fɔ go to dɔktɔ we sabi bɔt di yay wantɛm wantɛm:

• Ay pen.
• Di ed we kin at bad bad wan.
• Prɔblɛm dɛn we pɔsin kin gɛt we i de si.

Yu tink se dɛn go ebul fɔ protɛkt di sik we dɛn kɔl Axenfeld-Rieger syndrome?

If yu pikin gɛt di jin we de mek i chenj, i nɔ pɔsibul fɔ mek yu nɔ gɛt di sik we dɛn kɔl Axenfeld-Rieger syndrome. If yu de wɔri bɔt di risk fɔ mek yu pikin dɛn gɛt wan sik we dɛn gɛt frɔm dɛn jɛnɛtiks, tɔk to yu dɔktɔ. Dɛn kin rifer yu bak fɔ gɛt kɔyl fɔ yu jɛnɛtiks.

If mi pikin gɛt Axenfeld-Rieger syndrome, wetin a fɔ ɛkspɛkt?

Nɔto ɔl di wan dɛn we gɛt Axenfeld-Rieger syndrome na di sem. Aw e go afɛkt pikin in layf dipen pan usay di sayn dɛm de ɛn us prɔblɛm dɛn de kam wit am. Tɔk to yu dɔktɔ ɔ dɔktɔ we de mɛn yu yay bɔt wetin fɔ wach fɔ as yu pikin de ol.If yu notis ɛni nyu sayn, i go fayn fɔ mek dɛn chɛk dɛn kwik kwik wan.

Ustɛm a fɔ go to dɔktɔ?

Si dɔktɔ jɔs afta yu notis ɛni chenj na yu pikin in yay ɔ in yay.

Ustɛm fɔ go na di imejensi rum:

• Wan pɔsin we nɔ de si fayn wantɛm wantɛm.
• Di pen we de mek yu yay bad bad wan.
• Dɛn kin si nyu flash ɔ flota na dɛn yay. Dis na sayn dɛn we rili impɔtant fɔ wɔn pɔsin.

Us kwɛstyɔn dɛn a fɔ aks di dɔktɔ/dɔkta?

We yu go si dɔktɔ ɔ nɔs, nɔ fɔgɛt fɔ aks kwɛstyɔn dɛn lɛk dɛn wan ya:

• A fɔ mek dɛn du DNA tɛst fɔ no if mi pikin gɛt Axenfeld-Rieger syndrome?
• Usay i go gɛt sɔm sayn dɛn? (Na jɔs na di yay, ɔ na ɔda pat dɛn na di bɔdi bak?)
• Us kayn tritmɛnt i nid?
• Us chenj dɛn na in yay ɔ in bɔdi a fɔ pe atɛnshɔn mɔ to?

Mɛsej we dɛn kin kɛr go na os

Axenfeld-Rieger syndrome na wan sik wae nɔr kin bɔrku pan jɛnɛtiks. I kin afɛkt yu pikin in yay. Sɔmtɛm, di sayn dɛm kin sho bak na ɔda pat dɛm na di bɔdi. Dipen pan di sayn dɛm we yu pikin gɛt, yu kin jɔs nid fɔ de wach am fɔ si if dɛn yay ɔ in yay chenj. Bɔt i go mɔs bi se yu pikin go gɛt glaukoma sɔm tɛm na in layf. So, if yu pikin in yay de at ɔ in yay de wɔs, go to pɔsin we sabi bɔt yay wantɛm wantɛm.

If yu de wɔri fɔ pas di jenɛtik mutation we de mek yu pikin dɛn gɛt Axenfeld-Rieger syndrome, tɔk to yu dɔktɔ. I kin tɛl yu fɔ advays yu bɔt yu jɛnɛtiks fɔ ɛp yu fɔ ɔndastand di prɔblɛm dɛn we yu kin gɛt. Mɛmba se i impɔtant fɔ no bɔt dɛn tin ya ɛn go to dɔktɔ we nid de.

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