Yu gɛt sistin we dɔn bɔku insay yu bɔdi in sɛl dɛn? Dɛn kɔl dis sistinosis!

imajin, wetin go apin if wan amino asid we dεn kכl `(cystine)` (cysteine) bigin fכ kכmכt insay di sכm sכm sεl dεm na wi bכdi? Dat na di kכndyushכn we dεn kכl `(Cystinosis). Dis na wan sik wae nɔr kin bɔrku pan jɛnɛtiks wae nɔr kin si bɔrku, bɔt dɛn fɔ tek am se i rili impɔtant. we `(cystine)` kכmכt tu mכch insay di sεl dεm, dεn sεl dεm de kin pwεl. fכ bi prεsis, dis `(cystine)` de mek sכm sכm kristכl dεm fכm insay di sεl dεm, εn we dεn de kכmכt, dεn de mek prכblεm fכ difrεn כgan dεm εn tisu dεm na wi bכdi. Lɛ wi tɔk bɔt dis `(Cystinosis)` ditayli ɛn simpul wan tide, okay?

Wetin na Sistinosis? Lɛ wi ɔndastand gud gud wan!

Fɔ tɔk am simpul wan, sistinosis na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks . wetin de apin insay dis na di amino asid `(cystine)` (cysteine) de kכmכt insay wi sεl dεm. Yu no, amino asid rili impɔtant fɔ wi bɔdi. כltu, if dis `(cystine)` de fכ pasmak insay di sεl dεm, i de ambɔg di sεl dεm. fכ dis εksyכs `(cystine)` , sכm sכm kristכl dεm lεk tin dεm de f כm insay di sεl dεm. Dɛn kristal ya kin gɛda smɔl smɔl ɛn bigin fɔ pwɛl difrɛn ɔgan ɛn tisu dɛn na wi bɔdi.

Sistinosis kin afɛkt di kidni ɛn yay mɔs . Bɔt i kin pwɛl bak di bren, di mɔsul dɛn, di liva, di tayroyd, di pankrias, ɛn pan man dɛn, di tɛstikul dɛn.

Dis nɔ kin apin so ɔltɛm, we min se i kin afɛkt lɛk wan pan ɛvri tawzin pipul dɛn. Bɔt, na sik we rili siriɔs, we go de ɔl in layf . Bɔt if dɛn no am kwik ɛn trit am fayn, dɛn kin ebul fɔ kɔntrol di we aw di sik de go bifo ɛn aw i de wɔs. Bɔt bɔku pipul dɛn kin gɛt di sik we dɛn kɔl ɛnd-stej kidni sik ɛn dɛn kin nid fɔ transplant dɛn kidni.

Difrɛn kayn sistinosis de?

Yɛs, tri men kayn sistinosis de. Dɛn kin put dɛn kayn tin ya bay di ej we di sik fɔs apia (i.e. we di sik bigin) ɛn aw di sik dɛn kin tranga.

1. Nεfropatik sistinosis (infantil tayp) .

Dis na di kayn we we dɛn kin yuz mɔ . Na lɛk 95% pan di pipul dɛm wae gɛt dis kayn sik. Na di kayn we we kin rili bad bak . Dɛn kin kɔl am bak infantile cystinosis.

di pikin dεm we gεt dis `(Nephropathic cystinosis)` de divεlכ p wan spεshal kכndishכn we de pwεl di kidni dεm . dεn kכl am `(rεnal Fanconi sεndrכm)`. pan dis kכndyushכn, di minral dεm εn כda nyutriεnt dεm we wi bכdi nid nכ de kכmכt fayn fayn wan insay di bכdi, bכt dεn de kכmכt na di urine. Imajin, we smɔl pikin in bɔdi lɔs di tin dɛn we i nid dis we, .di pikin in growth de stכn, di bon dεm de wik, i kin bεn (dεn kin kכl dis bak ``rickets''), εn bכku כda prכblεm dεm kin apin.

Bɔku tɛm, we pikin ol tu ia , sistin kristal dɛn kin bigin fɔ mek na di kɔnia na in yay. Dɛn kristal ya kin gɛda, ɛn as tɛm de go, di yay dɛn kin fil fɔ layt (fotophobia). Dis kin mek yu yay fil bad bad wan ɛn yu nɔ kin fil fayn . I tan lɛk se di yay dɛn kin tɔn blu we dɛn de na di san.

Pikin dεm we gεt dis `(Nephropathic cystinosis)` dεn nid fכ transplant kidni. If dɛn nɔ trit dɛn pikin ya, di kidni dɛn kin nɔ wok fayn atɔl we dɛn ol 10. Bɔt if dɛn trit dɛn pikin ya fayn, dɛn kin liv te dɛn big wit gud kwaliti layf.

2. Intamεdiεt sistinosis (juvenile onset tεyp) .

Dɛn kin kɔl dis bak adolescent ɔ juvenile cystinosis. Di sayn dɛm kin tan lɛk di wan dɛm wae kin kam wit pikin dɛm wae gɛt sistinosis, bɔt di sayn dɛm kin sho wae dɛn smɔl ɔr yɔŋ . Di sayn dɛm kin nɔr kin pasmak ɔr kin tranga pasmak as tɛm de go.

Pipul wae gɛt dis kayn sistinosis go dɔn nid fɔ gɛt kidni transplant. if dεn nכ trit di kidni dεm, i kin kכmplit dysfunctional insay 15-25 ia .

3. Nɔn-nɛfrɔpatik sistinosis (di kayn we de afɛkt di yay nɔmɔ) .

Dɛn kin kɔl dis bak benign cystinosis, ɔ ocular cystinosis. Dis kayn tin kin afɛkt di yay nɔmɔ . di sistin kristכl dεm de fכm na di kכnia na di yay, we de mek di fכtofobia. Bɔt bɔrku pipul dɛm wae gɛt dis kayn sik nɔr kin gɛt kidni damej ɔr ɔda sayn dɛm .

di ej wae dεn kin no dis kכndyushכn (Non-nephropathic cystinosis) kin difrεn, biכs di simptom dεm nכ kin kכmכn. Bɔt i kin afɛkt big pipul dɛn we ol midul ej.

Udat kin gɛt sistinosis?

Sistinosis na wan sik we de mek pɔsin gɛt jɛnɛtiks we kin afɛkt ɛnibɔdi . di sik de inhεrit insay wan כtosom rεsεsiv patεn. Dis min se di mama ɛn papa dɛn ɔl tu fɔ kɛr di jin we dɔn chenj fɔ di sik . If di mama ɛn papa ɔl tu gɛt di mutated jin (we min se dɛn nɔ gɛt ɛni simptom, bɔt dɛn gɛt di jin), dɛn gɛt 25% (wan pan 4) chans fɔ gɛt pikin we gɛt sistinosis.

Aw dis sik kin bɔku?

Sistinosis na sik we nɔ kin bɔku . Insay di wɔl, na wan pan di 100,000 to 200,000 pikin dɛn nɔmɔ we dɛn bɔn.

Aw sistinosis kin afɛkt wi bɔdi?

Sistinosis na sik we de pan di grup we de sik we dεn kכl `(lysosomal storage disorder)`. imajin, insay wi sεl dεm sכm sכm כgan dεm de we dεn kכl `(lysosomes)` . Dɛn tin ya tan lɛk di dɔti bɔks dɛn we de na di sɛl. Dɛn kin brok di nyutriɛnt dɛn lɛk kabɔhaydrɛt, prɔtin, ɛn fat. sכm protin dεm de wok lεk `(εnzym)` εn de εp di bכdi fכ abzכp dεn nyutriεnt dεm ya. sכm כda protin dεm de wok lεk `(transpכta)`. dat min se dεn transpכrta dεm ya de tek di lεf `(cystine)` frכm dεn tin dεm we brok dכn kכmכt na di laysosom dεm.

naw, if yu lכs wan pan dεn transpכt protin dεm, `(cystine)` nכ kin kכmכt na di laysosom dεm εn i kin bigin fכ kכmכt insay di sεl dεm. na we `(cystine)` de fכm kכlכsta dεm, we de pwεl di כgan dεm.

Wetin na di sayn dɛm fɔ sistinosis?

Di sayn dɛm ɛn aw dɛn kin tranga kin difrɛn difrɛn wan fɔ di ej wae de sik bigin ɛn wae dɛn kin no bɔt am.

di simptom dεm fכ nεfropatik sistinosis (infantil fכm) kin bigin fכ sho bitwin 6 εn 18 mכnt , we di kidni dεm dεn dכn pwεl. Dis na di men sayn dɛm:

• Fɔ tɔsti pasmak (polydipsia).
• Fɔ pis pasmak (polyuria).
• Ilektrolayt imbalans na di bɔdi.
• Fɔ vɔmit.
• Di wata we nɔ de na di bɔdi.
• Fiva.

Ɔda sayn dɛn kin bi:

• We di bon dɛn wik, rikɛt.
• Fɔ nɔ ebul fɔ go bifo.
• Ska ɔ klawd na di kɔnia na di yay.
• Sεnsitiviti to layt (fotophobia).
• Di we aw pɔsin nɔ de si fayn.
• I nɔ izi fɔ swɛla (dysphagia).

di simptom dεm fכ intamεdiεt sistinosis (juvenile fכm) sεm lεk di wan dεm fכ di infantil fכm. Bɔt dɛn kin bigin fɔ apia we dɛn smɔl ɔ we dɛn dɔn yɔŋ. Dɔn bak, di sayn dɛm kin nɔr kin tranga. Ɔda sayn dɛm wae yu kin si pan dis kayn sik na:

• Taya, taya.
• Di mɔsul dɛn we wik .
• Mɔsul sik `(mayopati)` (mayopati).
• Short ayt.
• Dilay we pɔsin kin rich fɔ bɔn pikin.
• Di we aw pɔsin nɔ ebul fɔ bɔn pikin.

Ocular cystinosis (non-nephropathic cystinosis) de afekt כnli di kכnia na di yay. Bɔku tɛm na di wangren sayn we de sho se pɔsin nɔ de tink gud wan . Nɔr sik nɔr de we gɛt fɔ du wit di kidni.

Wetin na di tin dɛn we kin mek pɔsin gɛt sistinosis?

dis na bikoz fכ di jεnεtik mכtεshכn dεm na di jin we dεn kכl CTNS.. dis `(CTNS)` jin de instrכkt wi bכdi fכ mek wan protin we dεn kכl `(cystinosin)`. `(Cystinosin)` na di transpכrta protin we wi bin dכn tכk bכt. dat min se in wok na fכ tek di amino asid `(cystine)` kכmכt na di laysosom dεm.

so, we mכtεshכn de na di `(CTNS)` jin, difεkt de na di `(cystinosin)` protin. afta dat, `(cystine)` nכ kin kכmכt na di layzosom dεm εn i kin bigin fכ kכmכt. na da tεm de di sist dεm de fכm εn pwεl di sεl dεm na di כgan dεm.

fכ lכng tεm dεn bin se dis de inhεrit insay wan ``autosomal rεsεsiv patεn''. Dis min se di mama ɛn papa dɛn ɔl tu fɔ gɛt dis mutated jin (dɛn nɔ gɛt di sayn dɛn) . Na if di mama ɛn papa ɔl tu gɛt dis mutated jin nɔmɔ di pikin go gɛt dis sik.

Aw dɛn kin no se pɔsin gɛt Sistinosis?

Yu dɔktɔ go aks yu bɔt yu sik ɛn yu famili mɛdikal histri. Dɔn i go du in bɔdi ɛgzam ɛn ɔda fɔ du bɔku tɛst fɔ no if i gɛt di sik.

Us tɛst dɛn de du fɔ dis?

Di dɔktɔ kin du dɛn tɛst ya:

• Blɔd tɛst: Dɛn kin tek wan sɛmpul pan yu blɔd ɛn chɛk di lɛvɛl we sistin de na di wayt blɔd sɛl dɛn.
• Jεnεtik tεst: Wan jεnεtiks go chεk fכ mכtεshכn dεm na yu (CTNS) jin.
• Urinalysis: Dɛn kin tek urine sample ɛn chɛk fɔ si if i gɛt bɔku minral, nyutriɛnt, sɔl, ɛn amino asid.
• Fɔ chɛk yu yay: Wan dɔktɔ we de mɛn yu yay go yuz spɛshal maykroskɔp (slit lamp) fɔ luk fɔ sistin kristal dɛn na yu kɔnia.

If yu gɛt bɛlɛ ɛn sɔmbɔdi na yu famili gɛt sistinosis, ɛn dɛn si se yu ɛn yu patna ɔl tu gɛt di sik , dɛn kin du tɛst bifo yu bɔn, lɛk amniocentesis, fɔ no if yu pikin gɛt di sik . dis involv fכ tek sεmpl fכ sεl dεm frכm di amniotic fluid we de rawnd di pikin εn chεk fכ sistin lεvεl dεm.

כda tεst we dεn kכl ``chorionic villus sampling`` dεn kin yuz bak. dis de tεst di sεl dεm na di plasεnta.

Wetin na di tritmɛnt dɛm fɔ sistinosis?

Di mɛrɛsin we dɛn kɔl Cysteamine

Di men tritmɛnt fɔ sistinosis na wan mɛrɛsin we dɛn kɔl sistiamin . Dis na wan tin we de mek di sistin nɔ de igen. dis min se i de ridyus di lεvεl dεm fכ sistin na yu sεl dεm.

if dεn stat dis mεdisin `(cysteamine)` kwik, dεn kin kכntro di kidni dεm we dεn dכn pwεl bכku bכku wan εn i kin delay.. Dis drɔg dɔn ɛp fɔ delay di nid fɔ transplant kidni. Sɔm pikin dɛn dɔn ebul fɔ delay fɔ transplant dɛn kidni te dɛn big. Dɔn bak, dis mɛrɛsin de mek pikin dɛn we gɛt dis sik gro fayn fayn wan.

tu kayn `(Cysteamine)` de: `(CystagonTM)` εn `(ProcysbiTM)` (dεn na brand nem dεm). `(CystagonTM)` fɔ tek ɛvri siks awa. `(ProcysbiTM)` (fɔ di wan dɛn we dɔn pas 6 ia) gɛt spɛshal kɔtin, so dɛn kin tek am ɛvri 12 awa.

di usual mεdisin `(cysteamine)` nכ de trit `(cystine)` kristכl dεm na di kכnia na di yay. Fɔ dis, tu kayn `(cysteamine)` ay drɔp dɛn de we di US Food and Drug Administration `(FDA) dɔn gri fɔ: `(CystaranTM)` ɛn `(CystadropsTM)`. Yu fɔ put dɛn drɔp ya lɛk wan tɛm insay di awa we yu wek. Dɛn kin sɔlv di kristal dɛn we de na di kɔnia ɛn ridyus di sɛnsitiviti to layt.

Ɔda tritmɛnt dɛn

Pikin dɛm we gɛt sistinosis kin nid ɔda tritmɛnt, i kin dipen pan di sayn dɛm we dɛn gɛt. Di tritmɛnt fɔ Fanconi syndrome na:

• Drink plɛnti wata ɛn ilɛktrɔlayt (fɔ mek yu nɔ lɔs bɔku wata frɔm di bɔdi).
• Mɛrɛsin fɔ mek di bɔdi kɔntinyu fɔ balans di sɔl.
• Mεdisin fכ kכrekt di dεfεkt we di kidni dεm de abzכp fכsfεt.

Ɔda tritmɛnt dɛn fɔ sistinosis na:

• Grɔw ɔmon tɛrapi.
• If yu gɛt dayabitis we de dipen pan insulin, yu nid insulin.
• Dɛn kin yuz tɛstostɛron fɔ man dɛn we gɛt haypogonadism, we na wan sik we di tɛstikul dɛn nɔ kin wok fayn.
• Tɔk ɛn langwej tɛrapi.
• Kɔnsul fɔ di jenɛtiks.

Sɔm pikin dɛn we nɔ kin izi fɔ it kin nid fɔ gi dɛn tin fɔ it tru wan tiub (gastronomy tube). Dɛn kin yuz dis tiub fɔ gi di rayt it ɛn fɔ gi mɛrɛsin.

Ocular cystinosis, we de afekt di yay nכmכ, dεn kin trit am bak dεn we ya:

• Fɔ avɔyd brayt layt.
• We yu wɛr sanglas.
• Fɔ kip di yay dɛn wet.
• Na smɔl tɛm nɔmɔ, i kin nid fɔ transplant di kɔnia.

Kidni we dɛn kin transplant

Ivin if dεn dεtekt dεm εn tritmεnt kwik kwik wan, pipul dεm we gεt nεfropatik εn intamεdiεt sistinosis kin gεt di kidni fεil. Fɔs, yu dɔktɔ kin trit di kidni we nɔ de wok fayn wit dayalaysis. Dayalaysis na mashin we de tek sɔm pan di wok we yu kidni dɛn de du. I de filta dɔti tin dɛn we de kɔmɔt na yu blɔd ɛn ɛp fɔ mek sɔm kemikal dɛn we de na yu bɔdi kɔntinyu fɔ de di rayt we. Bɔt if di kidni nɔ wok fayn, i nɔ go ebul fɔ chenj, ɛn as tɛm de go, dɛn nid fɔ transplant di kidni .

Kidni transplant kin rili fayn fɔ pipul dɛm wae gɛt sistinosis. Kidni we dɛn gi nɔ kin gɛda sistin . Bɔt sistin kin stil gɛda na ɔda pat dɛn na yu bɔdi. So, yu go gɛt fɔ tek mɛrɛsin fɔ di res ɔf yu layf .

Ɛni bad tin de we di tritmɛnt kin du?

Di mɛrɛsin `(cysteamine)` gɛt smɔl bad smel ɛn i nɔ fayn fɔ te . So, sɔm pipul dɛn kin gɛt nɔys, vɔmit, ɛn at bɔn we dɛn de tek dis mɛrɛsin. `(cysteamine)` kin mek bak di bכdi asid we pasmak. Sɔm pipul dɛn kin tek mɛrɛsin lɛk `(proton pump inhibitors)` fɔ ridyus bɛlɛ asid. Dis kin ridyus dɛn gastrointestinal simptom dɛm. `(cysteamine)` kin mek bak bad briz `(halitosis)` ɛn bad briz.

Yu tink se dɛn kin ebul fɔ mek dɛn nɔ gɛt Sistinosis?

Sistinosis na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks, so dɛn nɔ kin ebul fɔ avɔyd am . If yu gɛt bɛlɛ ɔ yu plan fɔ gɛt bɛlɛ, yu kin tink bɔt fɔ tɛst yu jɛnɛtiks fɔ no if yu pikin de pan denja fɔ gɛt dis sik.

Wetin na de luk fɔ pɔrsin wae gɛt sistinosis? / Aw lɔŋ dɛn kin liv?

Wan tɛm, di sik we dɛn kɔl nephropathic cystinosis na bin wan sik we bin de kil yɔŋ pikin dɛn. Bɔt tide, we dɛn dɔn mek di mɛrɛsin we dɛn kɔl cysteamine ɛn di we aw dɛn de transplant dɛn kidni dɔn go bifo, di layf we pipul dɛn we gɛt sistinosis kin liv te dɛn big . Sɔm pipul dɛn kin liv fɔ pas 50 ia.

Fɔ no di sistinosis kwik kwik wan impɔtant. If dɛn trit am fayn, dɛn kin ebul fɔ kɔntrol di sik. If dɛn nɔ trit di pikin dɛn we gɛt sistinosis, dɛn go gɛt kidni we nɔ de wok fayn we dɛn ol 10. Ivin if dɛn gɛt tritmɛnt, bɔku pikin dɛn go gɛt kidni we nɔ de wok fayn we dɛn smɔl ɔ we dɛn dɔn yɔŋ. Dis go nid fɔ gɛt dayalaysis ɛn leta dɛn go transplant di kidni.

If yu tek sistiamin, yu nid fɔ kɔntinyu fɔ tek am fɔ yu layf . Risach dɔn sho se i kin mek bɔku pan di let kɔmplikeshɔn dɛm we kin kam wit sistinosis we nɔ gɛt natin fɔ du wit di kidni dɛm.

Fɔ dɔn, tin dɛn we wi fɔ mɛmba

Sistinosis na wan sik wae de kam pan pɔrsin in jɛnɛtiks wae kin mek yu gɛt difrɛn kayn sayn dɛm. If dɛn no di sik kwik kwik wan ɛn trit am kwik kwik wan, dɛn kin ebul fɔ kɔntrol aw di sik de go bifo . Wan tɛm, dis sik bin de kil yɔŋ pikin dɛn, naw dɛn kin trit dis sik wit mɛrɛsin. Ivin wit mɛrɛsin, pipul dɛm wae gɛt sistinosis kin dɔn gɛt kidni fail ɛn nid fɔ transplant kidni. Bɔt naw, pipul dɛn we gɛt dis sik kin liv fayn fayn wan te dɛn big.

If yu ɔ pɔsin we yu sabi gɛt dɛn sik ya, i rili impɔtant fɔ go to dɔktɔ wantɛm wantɛm.Nɔ wɔri, bɔt i fayn fɔ mek ɔlman no bɔt tin dɛn lɛk dis.

` sistinosis, sistin, kidni sik, jεnεtik dizכrd, Fanconi sεndrכm, sistiamin, kidni sik, jεnεtik sik, pikin hεlth