Yu pikin in nel ɛn in ni dɛn difrɛn? Yu tink se na di sik we dɛn kɔl Nail-Patella Syndrome?

Yu dɔn notis ɛni chenj na yu smɔl pikin in nel ɔ in ni? Sɔntɛnde, dɛn tin ya kin bi sayn fɔ wan jenɛtik kɔndishɔn we dɛn kɔl Nail-Patella Syndrome. Dis kin tan lɛk se yu de mek yu fred, bɔt nɔ wɔri. Lɛ wi tɔk bɔt am ditayli ɛn simpul wan. Dis kin afɛkt di we aw sɔm pat dɛn na di pikin in nel, in bon, in yay, ɛn in kidni dɛn de luk ɛn aw i de wok.

Wetin na di sayn dɛm fɔ dis sik? Aw yu no am?

Sɔm pat pan pikin in bɔdi we gɛt Nail-Patella Syndrome kin luk ɔ wok difrɛn we pas aw dɛn bin de tink. Lɛ wi tek tɛm luk wetin na dɛn sayn ya:

Nɛl dɛn

Yu pikin in nel kin rili shɔt, ɔ ivin nɔ de. Yu kin notis se di nel dɛn kin gɛt pit, pit, ɔ di kɔlɔ kin chenj. Bɔku tɛm, di finga nel dɛn kin afɛkt pas di nel dɛn na di fut. Dɛn chenj ya kin notis mɔ pan di big finga ɛn di indeks finga.

Ni (Patella) .

di kneecap, כ wetin dכkta dεn kכl ``Patella'', kin sכm sכm, tek difrεn shep, כ ivin disappear. Sɔntɛnde dis kneecap kin de ay smɔl ɔ na di sayd pas aw i kin bi. Dis kin mek di pikin in ni at, fil se i nɔ de stebul, ɔ i nɔ kin ebul fɔ bɛn ɔ stret di ni fayn fayn wan (rɛnj ɔf muvmɛnt). Patella dislokeshכn na kכmכn tin we kin apin na dis kכndishכn. Imajin se we yu pikin de ple, i ol in ni wantɛm wantɛm ɛn bigin kray, i nɔ ebul fɔ waka.

Ɛlbo

Sɔntɛm di bon dɛn we de na yu pikin in an nɔ go gro fayn lɛk aw dɛn bin de tink. כlso, sכmtεm yu kin si εkstra skin (lεk kכnektiv tisu) rawnd di εlbo. Dɛn chenj ya kin mek i nɔ ebul fɔ tɔn di an, ɛkstɛnd am, ɛn bɛn di ɛlb.

Hip bon dɛn

yu pikin kin gεt sכm sכm bon dεm we de kכmכt (dכkta dεn kכl dεn `iliac horns`) na in hip bon dεm. Dɛn kin de na di tu say dɛn na di hip bon. Sɔmtɛm dɛn kin fil dɛn tru di pikin in skin, bɔt bɔku tɛm dɛn nɔ kin bi big prɔblɛm.

Yay

di prεshכn we de insay di pikin in yay kin bכku (ocular hypertension). Dis kin kam fɔ bi wan sik we dɛn kɔl glaukoma. Pan ɔl we bɔku tɛm, dɛn nɔ kin si ɛni sayn fɔs, sɔm pikin dɛn kin gɛt ed we de at, dɛn kin gɛt halo rawnd layt, ɔ dɛn nɔ kin si fayn.

Kidni dɛn

Na lɛk 4 pan tɛn pipul dɛm wae gɛt Nail-Patella syndrome go gɛt sik na dɛn kidni, ilɛksɛf na pikin ɔr big. Dis kin kɔmɔt frɔm wae nɔr kin pasmak to wae kin mek pɔrsin in layf de pan denja. Ivin smɔl sik na di kidni kin tranga, smɔl smɔl ɔ wantɛm wantɛm.

Ɔda sayn dɛn we de sho se yu gɛt dis sik

Sɔm pipul dɛm wae gɛt Nail-Patella syndrome kin gɛt ɔda sayn dɛm bak, lɛk:

• Wach pan tip fut bikoz fכ tayt na di Akilis tεndon.
• di mכsul dεm we de dכn na di an εn di leg dεm.
• Kɔnstipɛshɔn ɛn/ɔ iritabl bɔdi sindrom.
• Di bon minral density we de dכn.
• Wan wan tɛm, yu an ɛn fut kin swɛla, yu kin swɛt, ɔ yu nɔ kin fil fayn.
• Tit dɛn we wik ɔ we kin brok izi wan ɔ di tut inɛmel we kin tan.
• abnכmal kכva na di spayna (scoliosis).

Risach pipul dɛm stil de tray fɔ ɔndastand gud gud wan aw dɛn prɔblɛm ya kin bɔku pan pipul dɛm wae gɛt Nail-Patella syndrome.

Wetin mek dis sik we dɛn kɔl nail-patella syndrome kin apin?

Fɔ tɔk am simpul wan, di Nail-Patella Syndrome kin kam bikɔs di chenj dɛn we de apin na yu pikin in jin (jin dɛn we difrɛn). Bɔrku tɛm , dɛn chenj ya kin de na wan jin we dɛn kɔl LMX1B pan pipul dɛm wae gɛt dis sik. dis LMX1B jin na in de tεl pikin aw fכ fכm tin dεm lεk in an, in lεg, in yay, εn kidni dεm fayn fayn wan we i de insay di bεlε.

dis jin vεryכnt dεm de mek di LMX1B protin nכ de fכnshכn lεk aw dεn bin de εkspεkt. dis kin mek difrεn pat dεm na di pikin in bכdi nכ de fכm nכmal wan, we kin mek i gεt di simptom dεm fכ Nail-Patella syndrome.

Bɔt, na smɔl tɛm nɔmɔ, sɔm pipul dɛn kin gɛt simptom dɛm fɔ Nail-Patella syndrome we nɔ gɛt muteshon na di LMX1B jin. Risach pipul dɛn tink se ɔda jin dɛn kin gɛt fɔ du wit dis, ɛn dɛn stil de chɛk.

Yu tink se dis sik kin pas frɔm wan jɛnɛreshɔn to ɔda jɛnɛreshɔn?

yes, Nail-Patella Syndrome na wan kכndyushכn we de pas dכn frכm jεnereshכn to jεnereshכn (insay wan ``autosomal dominant pattern``). dis min se if pikin gεt wan kכpi fכ dis jin vεryכnt frכm wan pan di mama εn papa, di pikin go gεt dis sεndrכm.

Fɔ tɔk am simpul wan, if yu gɛt Nail-Patella syndrome, yu pikin dɛn gɛt 50% chans fɔ gɛt di sik. Dis risk na di sem fɔ ɛvri bɛlɛ. Ɛn i nɔ mata if yu na gyal pikin ɔ na bɔy pikin.

Na lɛk nayn pan tɛn pipul dɛm wae gɛt Nail-Patella syndrome gɛt wan pan dɛn mama ɛn papa wit dis sik. Bɔt, lɛk wan pan ɛvri tɛn pipul dɛn nɔ kin gɛt pɔsin na dɛn famili we gɛt dis sik. Dis min se sɔm pikin dɛn na di fɔs wan dɛn na dɛn famili we dɛn bɔn wit dis sik.

Us ɔda prɔblɛm dɛn dis kin mek pɔsin gɛt?

Nail-Patella Syndrome kin mek sɔm prɔblɛm dɛn. Dɛn na:

• Ɔstiɔ-arayt (jɔyn pen) na yu pikin in ni ɛn/ɔ in ɛlb kin kam we i yɔŋ pas aw i bin de tink.
• Glaukoma kin mek pɔsin nɔ ebul fɔ si fayn if dɛn nɔ trit am fayn.
• Kidni we nɔ de wok fayn.

Sɔm pipul dɛm wae gɛt Nail-Patella syndrome kin nid fɔ gɛt dayalaysis ɔr fɔ transplant dɛn kidni bikɔs dɛn kidni nɔr de woke fayn.

כlso, if pכsin we gεt Nail-Patella syndrome gεt bεlε, risk de fכ gεt wan kכndyushכn we dεn kכl ``preeclampsia`` we i bεlε. Dɔktɔ dɛn kin wach ɛn ajɔst di mɛrɛsin dɛn we dɛn nid we uman gɛt bɛlɛ fɔ mek dis prɔblɛm nɔ bɔku.

Aw dɛn kin no dis sik kɔrɛkt wan?

Dɔktɔ dɛn go du wan ɔ mɔ pan dɛn tɛst ya fɔ no dis sik:

• Fɔ chɛk yu bɔdi : Luk fɔ tin dɛn lɛk we yu de chenj na yu nel ɛn we yu bon chenj.
• Spɛshal imej tɛst : Dɛn kin yuz ɛkstrem rayt, CT skan, ɛn MRI fɔ chɛk di bon dɛn mɔ.
• Blɔd ɛn/ɔ urine tɛst : Chɛk aw di kidni dɛn de wok.
• Kidni bayɔpsi : Dɛn kin tek wan smɔl pat pan di tisu frɔm di kidni ɛn chɛk fɔ si if di tisu chenj dɛn we spɛshal fɔ di Nail-Patella syndrome.
• Jεnεtik tεst : Dis de tεst fכ di jin vεryכnt dεm.

Dɔktɔ dɛn go tɔk to yu ɛn aks bɔt yu pikin in famili mɛdikal histri. Fɔ ɛgzampul, dɛn go aks if ɛnibɔdi na yu famili dɔn gɛt Nail-Patella syndrome ɔ ɔda kayn jenɛtik sik. Dis infɔmeshɔn go ɛp fɔ no di sik. Dɛn kin se bak fɔ tɛst yu jɛnɛtiks fɔ yu ɔ ɔda pipul dɛn na yu famili.

Bɔrku tɛm, di sayn dɛm wae de sho se yu gɛt Nail-Patella syndrome kin apin kwik kwik wan. Bɔt pan sɔm pipul dɛm, nɔr kin no bɔt dis sik fɔ lɔng lɔng tɛm, ɔr bikɔs de sik nɔr kin rili klia ɔr bikɔs de sik nɔr kin rili klia. Dɔktɔ dɛn kin no bɔt dis sik pan pikin ɛn big pipul dɛn we gɛt ɔl kayn ej.

Us kayn dɔktɔ dɛn go trit mi pikin ɛn no se i gɛt di sik?

Yu pikin kin nid wan tim fɔ dɔktɔ dɛn we spɛshal pan di pat dɛn na in bɔdi we di sik we dɛn kɔl Nail-Patella Syndrome dɔn afɛkt. Fɔ ɛgzampul:

• Wan ɔtpidist kin ɛp fɔ gɛt prɔblɛm wit di bon dɛn.
• Wan dɔktɔ we de mɛn di pikin in kidni kin wach aw di pikin in kidni dɛn de wok.
• Wan spɛshal pɔsin we de kia fɔ di pikin in yay kin kia fɔ di pikin in yay.

Wetin na di tritmɛnt fɔ di sik we dɛn kɔl nail-patella syndrome?

Nail-Patella Syndrome na wan sik wae de kam wae yu de liv yu layf. No mɛrɛsin nɔ de fɔ am. Bɔt tritmɛnt dɛn de fɔ kɔntrol di sik dɛn ɛn fɔ ridyus di prɔblɛm dɛn we kin apin.

Difrɛn kayn tritmɛnt de fɔ dis, ɛn yu kin nid fɔ gɛt pas wan tritmɛnt dipen pan aw di sik kin afɛkt yu pikin. Yu pikin in dɔktɔ dɛn go plan fɔ trit am bay wetin i nid. Dɛn nid ya kin chenj as tɛm de go. Sɔm pan di tritmɛnt dɛm wae kin de na:

• Fizik tɛrapi fɔ ɛp wit di prɔblɛm dɛn we pɔsin kin ebul fɔ muv.
• Mɛrɛsin fɔ kɔntrol bon ɛn mɔsul pen, blɔd prɛshɔn, ɔ yay prɛshɔn.
• Ɔpreshɔn fɔ kɔntrol di bon dɛn we nɔ de wok fayn, glaukoma, ɔ siriɔs kidni sik (inklud di kidni transplant).

Yu pikin in dɔktɔ dɛn go ɛksplen to yu di gud ɛn bad tin dɛn we ɛni tritmɛnt gɛt. Fɔ manej di pikin in kɔmpleks jenɛtik kɔndishɔn kin fil bad. So nɔ shem fɔ aks kwɛstyɔn ɛn tɛl ɔda pipul dɛn bɔt di tin dɛn we de mɔna yu. Da we de, yu go fil se yu gɛt kɔnfidɛns bɔt di tritmɛnt plan we yu pikin gɛt.

Dis sik go afɛkt di pikin in layf?

Bɔrku tɛm, Nail-Patella Syndrome nɔr kin afɛkt pɔrsin in layf. Bɔt if pɔsin gɛt siriɔs sik na in kidni, dat kin chenj. Dis kɔmplikeshɔn kin afɛkt di prɔgnosis ɛn aw lɔng pɔrsin de liv. Sɔm pipul dɛn kin ivin nid fɔ transplant dɛn kidni.

di jεnεtik kכndishכn dεm lεk Nail-Patella syndrome de afekt εvri pikin difrεnt sכmtεm, so i at fכ tכk εksεkshכn us sayn dεm yu pikin go gεt εn aw i go tranga. Yu pikin in dɔktɔ dɛn go ebul fɔ tɛl yu mɔ bɔt dis.

Yu tink se dɛn kin ebul fɔ protɛkt di sik we dɛn kɔl Nail-Patella syndrome?

Naw, no we nɔ de we dɛn no fɔ mek dɛn nɔ gɛt dis jenɛtik kɔndishɔn. If yu ɔ yu patna gɛt Nail-Patella Syndrome, ɛn yu de plan fɔ bɔn pikin, i go fayn fɔ tɔk to pɔsin we de advays yu bɔt yu jɛnɛtiks . Dɛn kin ɛp yu fɔ ɔndastand di chans fɔ mek yu pikin gɛt dis sik.

Ustɛm mi pikin fɔ go to dɔktɔ?

I go mɔs bi se yu pikin go nid fɔ go to dɔktɔ ɔltɛm to sɔm difrɛn dɔktɔ dɛn. Yu pikin in mɛdikal tim go tɛl yu ustɛm dɛn nid fɔ apɔntin ɛn ɔmɔs tɛm.

Bɔku tɛm, yu pikin go nid fɔ de chɛk dɛn tin ya ɔltɛm:

• Blɔd prɛshɔn chɛk.
• urine test, inklud di wan dεm we de mכsu `albumin-creatinine lεvεl`.
• Fɔ chɛk fɔ si if pɔsin gɛt glaukoma.
• Tɛst fɔ di bon dɛnsiti.

Dɔktɔ dɛn kin ɛp yu fɔ ɛksplen to yu pikin aw dɛn tɛst ya impɔtant.

I impɔtant bak fɔ pe atɛnshɔn to yu pikin in maynd wɛlbɔdi - ɛn yu yon. Yu pikin kin shem fɔ di we aw dɛn luk, ɔ i kin nid ɛp fɔ mek i gɛt kɔnfidɛns pan insɛf. Yu go de wɔnda bak wetin yu go du fɔ ɛp dɛn fɔ fil fayn.

Tɔk to yu pikin in dɔktɔ dɛm bɔt aw fɔ kɔnɛkt wit sɔpɔt grup dɛm, tritmɛnt pipul dɛm, ɛn soshal woka dɛm. If yu gɛt tim we gɛt ɛkspiriɛns pan mama ɛn papa ɛn wɛlbɔdi biznɛs pipul dɛn we de sɔpɔt yu famili, dat kin mek big chenj na yu layf ɛvride.

Aw rare de nail-patella syndrome?

Risach pipul dɛm se Nail-Patella Syndrome kin afɛkt lɛk wan pan ɛvri 50,000 pipul dɛm. Bɔt i kin bi mɔr bikɔs pipul dɛm wae gɛt dis sik wae nɔr kin pasmak nɔr kin no bɔt dis sik.

Ɔda nem dɛn de fɔ dis?

``Fong in sik`` na ɔda nem fɔ Nail-Patella Syndrome. Bɔku tɛm, dɛn bin de yuz dis nem trade. Tide, bɔku pipul dɛn kin kɔl am Nail-Patella Syndrome.

כda nem fכ di sem kכndyushכn na ``hεreditary onycho-osteodysplasia``. Lɛ wi luk wetin ɛni pat pan dis nem min:

• ``Hereditary`` min se yu kin si am na famili.
• ``Onycho`` min nel.
• ``Osteo`` min bon.
• ``Dysplasia'' min se abnכmal divεlכpmεnt כ divεlכpmεnt dεfekt de na wan pat pan di bכdi.

So, wetin na di impɔtant tin dɛn we wi fɔ mɛmba frɔm wetin wi dɔn tɔk bɔt?

We yu pikin gɛt wan sik we de na in bɔdi fɔ ɔl in layf lɛk Nail-Patella Syndrome, tin kin tranga smɔl. Yu kin wɔri bɔt yu pikin in wɛlbɔdi, in fiuja. Yu kin de wɔnda bak wetin yu nid frɔm dɛn fɔ ɛp dɛn fɔ gro, fɔ go bifo, ɛn fɔ gɛt gladi at. Na big lod, bɔt yu nɔ nid fɔ kɛr am yu wan. Tɔk to yu pikin in mɛdikal tim bɔt aw fɔ sɔpɔt yu pikin in nid – ɛn yu yon.

Mɛmba se if yu no di sik kwik kwik wan ɛn mɛn am di rayt we, dat go ɛp yu pikin fɔ liv in layf we nɔmal ɛn gɛt wɛlbɔdi. Nɔ fred ɔ panik. Di tin we impɔtant pas ɔl na fɔ trit yu pikin wit lɔv ɛn ɔndastandin we yu de fala di advays we dɔktɔ gi yu.

` Nel-Patella Sindrom, Jɛnɛtik Sik, Nɛl, Ni, Patella, Kidni Sik, LMX1B, Fong in sik, Pikin dɛn wɛlbɔdi