Yu de wɔri bɔt yu pikin in bon dɛn? Lɛ wi lan bɔt XLH (X-Linked Hypophosphatemia)!

Yu smɔl pikin kin let fɔ waka? Ɔ dɛn leg dɛn kin tan lɛk se dɛn dɔn butu smɔl? Sɔntɛnde, dɛn tin ya kin jɔs bi nɔmal tin. Bɔt sɔm tɛm dɛn kin gɛt wan kɔndishɔn biɛn dɛn lɛk XLH (X-Linked Hypophosphatemia) . Lɛ wi tɔk bɔt dis smɔl tide, nɔto so? Nɔ wɔri, a go ɛp yu fɔ ɔndastand ɔl dis.

Wetin XLH min? Lɛ wi ɔndastand am simpul wan!

Fɔ tɔk am simpul wan, XLH (X-Linked Hypophosphatemia) na wan sik we pɔsin kin gɛt we i kam pan jɛnɛtiks. Dat min se, na wan sik we kin kam bikɔs di jin dɛn we de na wi bɔdi kin chenj smɔl. I kin afɛkt yu bon ɛn tit mɔ . Yu go dɔn yɛri bɔt di sik we dɛn kɔl ``Rickets``? Wel, XLH na wan kayn riket. Yɔŋ pikin dɛm we gɛt dis sik kin gɛt prɔblɛm fɔ waka, dɛn leg kin butu. Nɔto dat nɔmɔ, bɔt dɛn kin gɛt ɔda prɔblɛm dɛn bak lɛk we dɛn mɔsul dɛn wik ɛn we dɛn nɔ de yɛri fayn.

Wetin na di sayn dɛm fɔ XLH? Lɛ wi tek tɛm smɔl!

Di sayn dɛm fɔ XLH kin apin we dɛn smɔl. Bɔt sɔm sayn dɛn kin apin bak we pɔsin big.

Di sayn dɛm we kin apin to yɔŋ pikin dɛm:

Na sɔm tin dɛn we yu fɔ pe atɛnshɔn to:

• I nɔ izi fɔ waka ɔ i kin delay fɔ bigin waka.
• Fɔ butu leg ɔ nak ni, lɛk se big bɔl de pas bitwin di leg.
• Pen na di bon ɛn mɔsul dɛn. yu likl pikin kin se, "Oh, mi leg de at"?
• Di ayt we dɔn go dɔŋ (shɔt ayt).
• Fɔ fil se yu nɔ gɛt layf ɛn yu taya ɔltɛm.
• Di mɔsul dɛn we wik.
• Prɔblɛm dɛn we gɛt fɔ du wit di tit: di pikin in tit kin lɔs bifo tɛm, di tut kin at, i kin gɛt absεs, ɛn di tut kin rɔtin ɔltɛm.
• Chenj na di shep fɔ di ed ɔ fes. sכmtεm dis kin bi we di bon dεm na di sכkul de fכs tכgeda tu kwik (dεn kכl am `craniosynostosis`).

Ɔda sayn dɛm wae kin kam wae pɔrsin dɔn big:

As pipul dɛm wae gɛt XLH de ol, ɔda sayn dɛm kin kam. Dɛn tin ya na:

• I nɔ de yɛri fayn igen.
• Ed de at.
• Narrowing of di spinal kanal (Spinal Stenosis).
• di bon dεm we de sכft pan big pipul dεm (`Osteomalacia`).
• Lɔs fɔ balans we yu de waka, i nɔ izi fɔ waka.
• Lɔs fɔ di tit dɛn we go de sote go.
• di ligament כ tεndon dεm we de tik כ tayt.
• Joint stiffness, difikulti fɔ bɛn.
• Fɔ taya ɔltɛm.
• Frakshכn εn pseudofracture (dat na usay bon de luk lεk frakshכn pan εks-ray, bכt i nכ rili bi komplit brek).

Wetin kin mek pɔsin gɛt XLH? Wetin mek dis kin apin?

Okay, naw mek wi si wai XLH de divelop. di rizin fכ dis na di jεnεtik mכtεshכn na di `PHEX jin` na wi bכdi.. dis `PHEX` jin de mek wan כmon we dεn kכl `FGF23` (`Fibroblast Growth Factor 23`). dis `FGF23` כmon rili imכtant. Bikɔs, i de ɛp fɔ kɔntrol di bɔku bɔku fosfɛt we de na wi bɔdi. Fɔsfɛt impɔtant fɔ mek wi bon dɛn gɛt wɛlbɔdi.

dis na wetin kin apin: if wi bכdi gεt inof fכsfεt, di כmon `FGF23` de tεl di kidni dεm se, "Okay, inof naw, lε wi pul di fכsfεt we pasmak na di urine." כltu, if di bכdi nid mכr fכsfεt, di prodakshכn fכ di כmon `FGF23` de dכn.

naw, di mכtayshכn na di `PHEX` jin de mek wi bכdi de prodyuz mכr `FGF23` כmon pas aw i nid. Bikɔs ɔf dis ɔmon we pasmak, di bɔdi de pul mɔ fɔsfɛt pas aw i nid na di urine. na da tεm de di fכsfεt we dεn nid fכ bon εn tit dεm de lכs, εn di simptom dεm fכ XLH de sho. Yu ɔndastand?

fכ sכmtεm: wan chenj na wan jin -> mכr pan di כmon `FGF23` de prodyuz -> mכr fכsfεt de kכmכt frכm di bכdi -> di bon dεm de wik.

Na XLH kɔmɔt frɔm dɛn mama ɛn papa?

yes, dis kכndyushכn we dεn kכl XLH de inhεrit insay wan X-linked כtosom dכminant patεn . Dis min se if pɔsin gɛt di jin wit da jɛnɛtik we de chenj, i go gɛt di sik. I kin afɛkt bɔy pikin dɛn smɔl mɔ .

Naw luk, gyal pikin gɛt tu X kromozom, bɔy pikin gɛt wan X kromozom ɛn wan Y kromozom. Bikɔs wi ɔl kin gɛt wan sɛks kromozom (X ɔ Y) frɔm wi mama ɛn papa:

• uman we gεt XLH jεnarali gεt 50% chans fכ pas dis jin to in pikin.
• Wan man we gɛt XLH kin pas dis jin to ɔl in gyal pikin dɛn , bɔt nɔto to in bɔy pikin dɛn.

Bɔt sɔntɛnde, pikin kin gɛt XLH ilɛksɛf nɔbɔdi nɔ gɛt am. insay dεn kayn kes dεm ya, di jεnεtik chenj kin apin randomly.

Aw yu go no ɛksaktɔli if yu gɛt XLH?

If dɔktɔ tink se yu gɛt XLH, dɛn kin du bɔku tɛst dɛn, lɛk:

• Blɔd ɔ urine tɛst: Dɛn tin ya kin chɛk di fɔsfɛt ɛn FGF23 ɔmon lɛvɛl .
• Jεnεtik Tεst: Chεk fכ si if mכtεshכn de na di PHEX jin.
• Bɔn Densiti Tɛst: Chɛk aw yu bon dɛn strɔng.
• X-ray ɔ ɔda imej tɛst: Chɛk aw di bon dɛn shep ɛn if ɛnitin de we nɔ fayn.

Wetin na di tritmɛnt dɛm fɔ XLH?

Na ɔnfɔni, no mɛrɛsin nɔ de fɔ XLH yet. Bɔt sɔm tritmɛnt dɛn de we kin ɛp fɔ kɔntrol di sik dɛn ɛn mek di bon dɛn kɔntinyu fɔ gɛt wɛlbɔdi. di men gol ya nכto fכ bכn di fכsfεt lεvεl bak to nכmal (we nכ kin pכsibul), bכt fכ mεnten di bon hεlth.

Dɛn kin du dɛn tin ya as tritmɛnt:

• Gi fכsfεt supliment εn kalsitriol (wan kayn vaytam in D).
• Burosumab : Dis na wan monoklonal antibodi we de blכk di כmon FGF23.
• Fizik Tɛrapi (PT): Fɔ mek di mɔsul dɛn strɔng ɛn mek i izi fɔ waka.
• Occupational Therapy (OT): I de ɛp yu fɔ du di wok dɛn we yu de du ɛvride izi wan.
• כpεrayshכ n fכ kכrekt di bon dεm we de fכm (e.g., di leg dεm we dεn bow).
• Fɔ gi ɔmon fɔ gro to di wan dɛn we shɔt.
• Ɛp fɔ yɛri fɔ di wan dɛn we nɔ de yɛri fayn.

Apat frɔm dat, if tin dɛn lɛk fɔ brok in bon ɔ fɔ gɛt prɔblɛm wit in tit, dɛn go nid fɔ du ɔpreshɔn ɔ ɔda tritmɛnt bak.

Wetin pɔsin we gɛt XLH kin ɛkspɛkt?

If yu ɔ yu pikin gɛt XLH, i impɔtant fɔ gɛt diagnosis ɛn tritmɛnt kwik kwik wan . Dis kin ɛp fɔ mek yu nɔ gɛt bɔku prɔblɛm dɛn. Sɔntɛnde, sɔm bon dɛn we nɔ fayn kin go fɔ dɛnsɛf, ɔ dɛn nɔ kin kɔz ɛni prɔblɛm. Bɔt sɔm tɛm dɛn de, dɛn kin nid fɔ du ɔpreshɔn ɔ tritmɛnt fɔ mek dɛn kɔrɛkt dɛn. I fayn fɔ tɔk to yu dɔktɔ bɔt dis ɛn aks wetin fɔ ɛkspɛkt.

Wetin na di layf we pɔsin we gɛt XLH de liv?

Stɔdi dɔn sho se di layf we pɔsin we gɛt XLH kin liv kin shɔt lɛk et ia pas pɔsin we nɔ gɛt dis sik. Bɔt masta sabi bukman dɛn stil nɔ shɔ wetin rili mek dis difrɛns pan layf.

Yu tink se dɛn kin mek dɛn nɔ gɛt XLH?

XLH na wan jenɛtik kɔndishɔn, so dɛn nɔ go ebul fɔ stɔp am. Bɔt if dɛn no di sik kwik kwik wan ɛn bigin fɔ trit am lɛk Burosumab, pikin dɛn kin divɛlɔp nɔmal wan ɛn nɔ gɛt ɛni sayn . If yu gɛt XLH ɛn yu want fɔ no bɔt di pɔsibul fɔ pas am to pikin dɛn we go kam, i rili impɔtant fɔ tɔk to pɔsin we de advays yu bɔt yu jɛnɛtiks .

If a gɛt XLH, aw a go tek kia ɔf misɛf/mi pikin?

We yu de liv wit XLH, dɛn tin ya kin ɛp yu fɔ kia fɔ yusɛf ɛn yu pikin:

• Mek dɛn du di jenɛtik tɛst. If dɛn kɔnfyus di sik, yu kin bigin fɔ trit am kwik kwik wan.
• Si dɛntist ɔltɛm. Dis go ɛp yu fɔ no di prɔblɛm dɛn we de wit yu tit ɛn yu gɔm kwik kwik wan.
• Mek shɔ se yu go na di fɔlɔp apɔntinmɛnt ɛvride we yu go si yu dɔktɔ. Nɔ skip tin dɛm lɛk fizik tɛrapi (PT) ɛn ɔkupeshɔn tɛrapi (OT). Tɛl yu dɔktɔ if yu gɛt ɛni nyu sik ɔ if yu sik de wɔs.
• Tek di mɛrɛsin we dɛn gi yu jɔs lɛk aw dɛn tɛl yu fɔ tek, di rayt tɛm. If yu gɛt ɛni kwɛstyɔn bɔt aw fɔ tek yu mɛrɛsin, ɔ if yu gɛt ɛni sayd ɛfɛkt, tɛl yu dɔktɔ.
• Du tin dɛn we yu de du fɔ yu bɔdi lɛk aw yu dɔktɔ tɛl yu fɔ du.Aks am us ɛksesaiz dɛn we sef we go mek yu bon dɛn strɔng.

Ustɛm a fɔ go to dɔktɔ?

If yu gɛt ɛnitin fɔ wɔri bɔt yu pikin in wɛlbɔdi ɔ if i de mit di divɛlɔpmɛnt maylston dɛn, tɔk to yu dɔktɔ we de mɛn pikin dɛn . I go se dɛn fɔ du ɔda tɛst dɛn if nid de.

If yu gɛt XLH, go to dɔktɔ wantɛm wantɛm if yu gɛt nyu sik ɔ if yu sik de wɔs.

Ustɛm yu nid fɔ go na di Imejɛnsi Tritmɛnt Yunit (ETU) ?

Si dɛntist if ɛnitin apin to yu tit. Fɔ ɛgzampul:

• Wan bad bad tut we de at.
• Tit kin chip ɔ brok bad bad wan.
• Tut we lɔs ɔ we de kam kɔmɔt (extruded tooth).
• Wan tit absεs de divεlכp na di rut fכ wan tut, we kin mek di fes εn di jaw swel.

Us kwɛstyɔn dɛn a fɔ aks di dɔktɔ?

I go fayn fɔ aks kwɛstyɔn dɛn lɛk dis we yu go si yu dɔktɔ:

• Us tritmɛnt opshɔn dɛn de fɔ mi/mi pikin?
• Aw a go protɛkt mi/mi pikin in bon wɛlbɔdi?
• Ustɛm yu fɔ go na di Imejɛnsi Rum (ETU) ?
• Ustɛm a fɔ si yu bak?

Pikin dεm we gεt XLH kin rich puberty?

Yɛs, na fɔ tru. Pikin dεm we gεt XLH kin go tru puberty εn dεn kin gεt growth spurts jכs lεk εni כda pikin. Nɔ fred dat.

Fɔ dɔn, wetin fɔ mɛmba

If dɛn no se yu gɛt wan sik we yu go gɛt fɔ ɔl yu layf, dat kin mek yu fred smɔl. Yu kin wɔnda aw yu pikin in fiuja – ɔ yu yon fiuja – go tan lɛk wit XLH.

Bɔt mɛmba se, pipul dɛm wae gɛt XLH kin liv lɔng, wɛl bɔdi layf. If yu no di sik kwik kwik wan ɛn trit yu fayn, dat kin ɛp yu fɔ mek yu bon dɛn strɔng ɛn gɛt wɛlbɔdi. Nɔ ɛva shem fɔ tɔk to yu dɔktɔ opin wan bɔt ɛnitin we de mɔna yu ɔ kwɛstyɔn we yu go gɛt. I go ebul fɔ ɛp yu.

` XLH, X-Linked Hypophosphatemia, Bon Disease, Jɛnɛtik Disease, Rickets, Fosphate, Pikin dɛn wɛlbɔdi, FGF23