Yu tink se pɔyzin de gɛda insay yu sɛl dɛn? Dis na bɔt di Lysosomal Storage Diseases!

Yu dɔn ɛva yɛri bɔt Lysosomal Storage Diseases, ɔ LSD? Dɛn tin ya nɔr kin bɔrku, dat min se bɔrku pipul nɔr kin gɛt dɛn, jɛnɛtik kɔndishɔn. Fɔ tɔk am simpul wan, dɛn sik ya kin mek tin dɛn we wi nɔ want, we kin gɛt pɔyzin, gɛda insay wi bɔdi in sɛl dɛn. Lɛ wi tɔk bɔt dis smɔl mɔ tide, nɔto so?

Wetin na di enzym dεm εn laysosom dεm? Aw dɛn kin wok?

Imajin se ɔl di sɛl dɛn na yu bɔdi tan lɛk smɔl faktri. Insay dɛn faktri ya, wan spɛshal dipatmɛnt de we dɛn kɔl ‘Lysosome’. Dɛn laysosɔm ya de wok lɛk tin we de klin na wi os. Fɔ ɛp dɛn fɔ du dis wok fayn fayn wan, dɛn gɛt spɛshal wokman dɛn we dɛn kɔl ‘Enzymes’. dis εnzym dεm na di difrεn tin dεm we de kam insay wi sεl dεm, fכ egzampl:

• Kabohaydrɛt (dat min tin dɛn lɛk fayv, stach, ɛn shuga) .
• Lipid (di kayn fat dɛn) .
• Protin dɛn we de mek pɔsin gɛt
• Ol pat dɛn na di sɛl we nɔ gɛt yus

Dɛn kin ɛp fɔ brok, brok, ɛn dayjɛst tin dɛn lɛk dat. Wi kɔl dis prɔses mɛtabolism . So, dεn εnzym dεm εn laysosom dεm de wok tכgeda fכ kip wi sεl dεm klin εn hεlty.

So wetin kin apin pan laysosomal stכrej sik dεm (LSD)?

Naw imajin wan spɛshal wokman na di klin dipatmɛnt na da faktri de we wi bin dɔn tɔk bɔt, wetin kin apin if wan patikyula ɛnzaym nɔ de wok fayn, ɔ if da ɛnzaym de nɔ de atɔl? Na da tɛm de di prɔblɛm bigin.

na dat kin apin na di bכdi fכ pכsin we gεt lysosomal storage disease (LSD). dεn nכ gεt wan patikyula εnzym, כ כda tin we de εp da εnzym de fכ wok (enzyme activator כ modifier). afta dat, dεn laysosom dεm nכ kin ebul fכ brok dכn tin dεm lεk fεt εn shuga dεm we dεn nid fכ brok dכn fayn fayn wan.

So wetin kin apin? Dɛn tin ya we nɔ kin brok kin bigin fɔ gɛda insay di sɛl dɛn. I tan lɛk bɔku bɔku dɔti. As tɛm de go, dɛn tin ya kin bi pɔyzin ɛn pwɛl di sɛl dɛn. Dis damej kin spre ɛn afɛkt difrɛn pat dɛn na wi bɔdi. Fɔ ɛgzampul:

• Bren
• Sɛntral Nɛvɔs Sistɛm
• At
• Skel Sistem we de na di skel
• Kanda

Dis na wetin kin apin na di lysosomal storage disease (LSD), fɔ tɔk am simpul wan.

di kayn sik dεm we de fכ stכr di lysosomal stכrej (LSD) dεm de?

Yes, te naw, risecharch dεm dכn no pas 50 tכp dεm fכ lysosomal storage diseases (LSDs). Dɛn stil de fɛn nyu kayn dɛn. I rili kɔmplikt, nɔto so?

jεnarali, dεn sik ya kin sheb to tri men tכp dεm dipכnt pan di εnzym we nכ de.

Lipidos dɛn we dɛn kin yuz

dis kayn sik kin apin we di bכdi nכ gεt εnzym we i nid fכ brok di lipid dεm. Sɔm ɛgzampul dɛn na:

• Kɔlestɛril Ɛsta Stɔrej Sik
• Wolman Sik we pɔsin kin gɛt

Mucopolysakaridos dɛn we dɛn kin yuz

dis dεm kin apin we di εnzym we nid fכ brok dכn glycosaminoglycans, we na wan kayn kכmpleks shuga mכlekyul, nכ de. Sɔm ɛgzampul dɛn na:

• Wan sik we dɛn kɔl Hunter Syndrome
• Di Sik we Hurler gɛt

Sfingolipidos dɛn we dɛn kɔl Sphingolipidoses

dis kayn tin kin apin we wan εnzym we de brok wan spεshal kayn fεt we dεn kכl sphingolipids nכ de . dis sfingolipid dεm na tin dεm we de du spεshal wok, lεk fכ protεkt di sεf fכ wi sεl dεm. Sɔm sik dɛn we de insay dis kayn sik na:

• Fabry Sik we pɔsin kin gɛt
• Gaucher Disease we pɔsin kin gɛt
• Krabbe Disizin / Globoid Sɛl Lukodistrofi
• Mɛtakrɔmatik Lukodistrofi
• Niemann-Pik sik (NP) .
• Sandhoff Sik we pɔsin kin gɛt
• Tay-Sachs Sik we pɔsin kin gɛt

Ɔda kayn LSD dɛn

Apat frɔm dɛn men kategori ya, ɔda kayn LSD dɛn de. Fɔ ɛgzampul:

• Batten Sik we pɔsin kin gɛt
• Sistinosis we de mek pɔsin gɛt sik
• Danon Sik we pɔsin kin gɛt
• Pompe Sik we pɔsin kin gɛt

Yu si, ɔl dɛn sik ya kin kam bikɔs wan patikyula ɛnzaym nɔ de. Di sik ɛn di tin dɛn we i kin du kin difrɛn difrɛn wan bay di ɛnzaym we nɔ de.

Udat kin gɛt dɛn lysosomal storage disease (LSD) ya? Aw dɛn kɔmɔn?

Infakt, ɛnibɔdi kin gɛt wan sik we dɛn kɔl lysosomal storage disease (LSD). Bɔt sɔm etnik grup ɛn rijyɔn dɛn kin gɛt dis sik mɔ. Fɔ ɛgzampul, sɔm kayn LSD dɛn kin bɔku pan di Ju pipul dɛn na Ist Yurop ɛn pipul dɛn na Finland.

Dɛn sik ya so bɔku dat na lɛk wan pan ɛvri 40,000 to 60,000 pipul dɛn nɔmɔ gɛt LSD. Dis min se dɛn sik ya na grup we nɔ kin bɔku . Na dat mek bɔku pipul dɛn nɔ ivin yɛri bɔt dɛn.

Wetin kin mek yu gɛt lysosomal storage disease (LSD)?

Lysosomal storage diseases (LSD) na di mεtabolik dizכrd dεm we dεn kin gεt we dεn bכn am εn na di jεnεtik fכktכ dεm kin kכz am . fכ bi prεsis, bכku pan dεn tin ya de pas dכn frכm jεnereshכn to jεnereshכn as ' Autosomal Recessive Disorders' .

Naw yu go mɔs de wɔnda wetin ‘auto-retard’ min. Fɔ tɔk am simpul wan, i tan lɛk dis:

Nɔmal wan, wi kin gɛt wan kɔpi fɔ ɛni jin frɔm ɛni mama ɛn papa. Fɔ mek wan LSD, .di pikin fכ gεt wan mכtεd kכpi fכ di jin fכ di sik frכm di mama εn papa. Di impɔtant tin na dat dɛn mama ɛn papa ya na jɔs pipul dɛn we de kɛr di jin we dɔn chenj. Dis min se dɛn nɔ gɛt LSD, bɔt dɛn gɛt di jin we kin mek pɔsin gɛt di sik.

So, if mama ɛn papa dɛn ɔl tu na pɔsin we de kɛr pikin, na di chans dɛn ya we dɛn gɛt pikin:

• 25% (1 pan 4) chans de fכ mek di pikin gεt hεlth we i nכ gεt εni jin we dεn chenj.
• 25% (1 pan 4) chans de fɔ mek pikin gɛt LSD (if dɛn gɛt di jin we dɛn dɔn chenj frɔm in mama ɛn papa ɔl tu).
• 50% (1 pan 2) chans de fכ di pikin go bi asymptomatic carrier, jכs lεk di mama εn papa (if dεn inhεrit di כltεr jin frכm wan mama εn papa nכmכ).

Yu ɔndastand? Dis kin tan lɛk se i kɔmplikt smɔl, bɔt na so di sik dɛn we pɔsin kin gɛt we i kam pan jɛnɛtiks kin skata.

Sɔm kayn LSD dɛn de we dɛn kɔl X-linked Inheritance . dis min se di jin fכ di sik de pan di X kromozom, so pikin (especially man pikin) kin gεt di sik frכm di mama nכmכ. Danon Disease, Fabry Disease, ɛn Hunter Syndrome na tri pan dɛn kayn sik ya.

Apat frɔm dɛn jɛnɛtik kɔz ya, sɔmtɛm dɛn tin ya kin ɛp bak fɔ mek LSD dɛn wɔs ɔ divɛlɔp:

• Inflameshɔn na di bɔdi.
• כksidεtiv strεs na di intarakshכn bitwin di bכdi εn fri radikal dεm , we na bayprodukt dεm fכ mεtabolism.

LSD kin apin we uman gɛt bɛlɛ ɔ jɔs afta dɛn bɔn am. Bɔt, na smɔl tɛm nɔmɔ, dɛn kin bigin bak pan big pipul dɛn. LSD wae kin bigin na pikin kin pasmak, wae kin bigin leta na layf kin nɔr kin tranga.

Wetin na di sayn dɛm fɔ lysosomal storage disease (LSD)?

De sayn dɛm fɔ dɛn sik ya kin difrɛn bad bad wan. I dipen pan:

• dipכnt pan us sεl כ כgan dεm we LSD de afekt.
• I dipen pan us kayn LSD i bi.

Bɔt sɔm sayn dɛn de we kin apin to bɔku kayn LSD. Dɛn tin ya na:

• di כgan dεm na di bכdi we nכ de gro, lεk di kidni, liva, pankrias, splin, כ bεlε (visceromegaly).
• Di mɔsul dɛn we de na di skel kin chenj.
• Di tin dɛn we pɔsin kin si na in fes kin rɔf smɔl. Fɔ ɛgzampul, fɔrɛst we de kɔmɔt na do, nos we flat, ɛn lip dɛn we big .
• divεlכpmεnt delay na di pikin. Dis kin bɔku smɔl smɔl as tɛm de go.

If yu pikin gɛt wan ɔ mɔ pan dɛn sik ya, i rili impɔtant fɔ go to dɔktɔ wantɛm wantɛm fɔ advays.

Aw dɛn kin no bɔt di sik dɛn we de na di laysosɔm stɔrɔj ​​(LSD)?

dכkta dεm kin no di lysosomal storage disease (LSD) dεm we uman bεlε. Dɛn kin yuz tɛst dɛn we dɛn kin du fɔ chɛk pɔsin bifo dɛn bɔn pikin . Fɔ ɛgzampul:

• Amniocentesis (we de tεst di wata we de insay di bεlε) .
• Chorionic Villus Sampling (we dεn egzamin wan pat pan di plasεnta) .

fכ chεk fכ LSD dεm na nyu bכbi dεm, dεn kin du bכdi tεst fכ luk fכ lכw εnzym dεm. Sɔntɛnde, dɛn kin tek smɔl drop blɔd (dray blɔd spat) frɔm wan finga, spre am pan spɛshal pepa, lɛf am fɔ dray, dɔn dɛn kin tɛst fɔ si if i gɛt ɛnzaym dɛn.

If yu tink se yu ɔ yu pikin gɛt LSD, dɛn kin sɛn yu to dɔktɔ we de mɛn ɛndɔkrin ɔ pikin dɛn we de mɛn ɛndɔkrin . Fɔ pikin ɛn big pipul dɛn, di dɔktɔ kin tɛl dɛn fɔ du tɛst dɛn lɛk:

• Blɔd tɛst: Chɛk di ɛnzaym lɛvɛl.
• Jεnεtik tεst: Chεk fכ mכtεshכn dεm na yu jin dεm.
• Panch biopsy: Tek smɔl pat pan di skin ɛn chɛk fɔ si if di jɛnɛtik chenj dɛn de.
• Yurin tεst / urinelysis: mכsu di amoun fכ di sabstεrayt dεm we di εnzym dεm nכmal fכ yuz.

Apat frɔm dis, dɛn kin du ɔda tɛst fɔ si if yu ɔgan dɛn dɔn pwɛl. Fɔ ɛgzampul:

• Kɔmplit Blɔd Kɔnt
• Ay ɛgzam
• Test fɔ yɛri
• At tɛst: lɛk ɛkokadiogram ɛn ilɛktrɔkadyɔgram (EKG) .
• Test dɛn we di kidni de du
• Test fɔ di wok we di liva de du
• MRI skan (MRI) .
• X-ray we dɛn kin du

Dɛn kin yuz dɛn tɛst ya fɔ no ustɛm di sik ɛn aw i bad.

Aw dɛn kin trit di sik dɛn we dɛn kɔl lysosomal storage disease (LSD)?

Bɔku tɛm dɛn kin trit di sik dɛn we dɛn kin gɛt we dɛn kɔl lysosomal storage disease (LSD) na spɛshal mɛdikal sɛnta dɛn. No mɛrɛsin nɔ de fɔ mɛn dɛn sik ya. Bɔt sɔm tritmɛnt dɛn de we kin ɛp fɔ kɔntrol di sik dɛn ɛn fɔ mek di ɔgan dɛn nɔ pwɛl. Dɛn tin ya na:

• Enzyme Replacement Therapy (ERT): Dis involv fכ gi wan εnzym we dεn jεnεtik εnjinia to di bכdi insay di bכdi.
• Stem Sɛl Transplant dɛn:di stεm sεl dεm, we na frכm di wan dεm we de gi di bכdi כ frכm di כmbilikal kכd blכd, dεn kin transplant dεm. dis sεl dεm kin εp fכ mek di εnzym we nכ de. Dɛn kin ɛp bak fɔ ridyus di inflamɛns ɛn di tisu dɛm we de pwɛl.
• Substrate Reduction Therapy (SRT): dis involv fכ gi mεdikeshכn dεm we de ridyus di כmכnt כf sכbstans dεm (substrate) we de kכmכt insay di sεl dεm. Fɔ ɛgzampul, dɛn kin yuz Miglustat fɔ di sik we dɛn kɔl Gaucher. Ɔda SRT dɛn de na klinik trial naw.

Risach pipul dɛn stil de luk fɔ nyu tritmɛnt fɔ LSD. Sɔm pan dɛn na:

• Jin Tɛrapi: Dis stil de na di risach stej. I min fɔ chenj di jin dɛn we dɔn pwɛl wit di wan dɛn we gɛt wɛlbɔdi.
• Fכmakכlכjik Chaperone Tεrapi (PCT): insay dis, sכm sכm mכlikul dεm de tay pan di εnzym dεm we dεn dכn pwεl εn i de mek di laysosom dεm wok fayn.

Apat frɔm dɛn patikyula tritmɛnt ya, dɛn kin yuz ɔda tritmɛnt dɛn fɔ kɔntrol di sayn dɛn we pɔsin kin gɛt. Fɔ ɛgzampul:

• Di tin dɛn we de mek di bɔdi nɔ ebul fɔ fɛt di sik
• Nɔn-stɛroyd Anti-inflammatory Drugs (NSAID) .
• Ɔtpidik bres dɛn
• Ɔda mɛrɛsin dɛn dipen pan di sayn dɛm ɛn di ɔgan dɛm we dɛn afɛkt
• Fizik tɛrapi
• Tɛrapi fɔ tɔk
• Sɔntɛnde, dɛn kin du ɔpreshɔn pan am

Yu tink se dɛn kin ridyus di risk fɔ gɛt laysosomal stɔrɔj ​​sik (LSD)?

Natin nɔr rili de we wi kin du fɔ ridyus di risk fɔ gɛt lysosomal storage diseases (LSD) bikɔs na di jɛnɛtik factor dɛm kin kam wit am. Bɔt fɔ bigin tritmɛnt jɔs lɛk aw dɛn dɔn no se yu ɔ yu pikin gɛt dis sik, dat kin rili ɛp yu fɔ liv yu layf fayn fayn wan.

Us kayn fiuja pɔsin we gɛt LSD kin ɛkspɛkt?

Di fiuja fɔ pɔsin we gɛt LSD kin dipen pan bɔku tin dɛn:

• Aw dɛn bin no di sik kwik kwik wan.
• Us kayn tritmɛnt yu go gɛt?
• Na jɔs wan tin bɔt us kayn LSD i bi.
• If LSD kin go na ples dɛn we gɛt spɛshal mɛdikal fasiliti.

Jɛnɛral wan, pɔrsin wae gɛt siriɔs LSD kin gɛt shɔt layf. Bɔt pan LSD dɛn we nɔ rili bad, if dɛn bigin fɔ trit am bifo di ɔgan dɛn pwɛl, dɛn kin ebul fɔ liv lɔng.

Aw a go kia fɔ misɛf ɛn mi pikin we a de liv wit LSD?

If yu ɔ yu pikin gɛt lysosomal storage disease (LSD), i kin bi big prɔblɛm wit yu maynd. So, i rili impɔtant fɔ aks fɔ ɛp frɔm pɔsin we de stɔdi bɔt pɔsin in maynd. Dɛn kin tich yu aw fɔ ɛp yu fɔ bia wit dis sik pan yu maynd.

Dɔn bak, i fayn fɔ jɔyn sɔpɔt grup dɛn. Da we de yu kin mit ɔda pipul dɛn we de gɛt di sem kayn prɔblɛm ɛn tɛl dɛn bɔt dɛn ɛkspiriɛns.

Ustɛm a fɔ go to dɔktɔ?

If yu sik de wɔs, ɔr if yu nɔr de si ɛni rizɔlt frɔm yu tritmɛnt dɛm afta sɔm tɛm, mek shɔ se yu go to yu dɔktɔ. I kin tɛl yu ɔda tritmɛnt dɛn we go ɛp yu.

Faynal Mɛsej fɔ Tek-Hom

Lysosomal Storage Diseases, ɔ LSD, na wan grup fɔ sik dɛn we nɔ kin bɔku, we kin kɔmɔt frɔm we pɔyzin tin dɛn kin gɛda insay wi bɔdi in sɛl dɛn. Dɛn pɔyzin ya kin pwɛl di sɛl dɛn ɛn difrɛn ɔgan dɛn.

Dɛn dɔn no pas 70 kayn LSD dɛn. Dɛn kin kam bikɔs ɔf di chenj dɛn we de apin na di jɛnɛtiks. Pan ɔl we di sayn dɛm kin difrɛn difrɛn wan bay di kayn LSD, di kɔmɔn sayn dɛm na we di bɛlɛ ɔgan dɛn kin big, di fes kɔs kɔs, ɛn di divɛlɔpmɛnt we kin delay.

Dɛn kin no LSD we dɛn gɛt bɛlɛ, pan pikin dɛn we dɛn jɔs bɔn, ɔ pan pikin ɛn big pipul dɛn tru blɔd tɛst, jenɛtik tɛst, bayɔpsi, ɛn urine tɛst.

Pan ɔl we dɛn nɔ go ebul fɔ mɛn dɛn sik ya ɔlsay, tritmɛnt dɛn de we go ɛp fɔ kɔntrol di sik dɛn ɛn mek in layf bɛtɛ. So, i rili impɔtant fɔ no di sik kwik kwik wan ɛn go to di rayt tritmɛnt. If yu gɛt ɛni ɔda kwɛstyɔn bɔt dis, nɔ shek fɔ aks yu dɔktɔ, okay?

` Laysosomal Stɔrej Sik, LSD, Jɛnɛtik Sik, Ɛnzaym, Mɛtabolik Sik, Rare Sik, Pikin Wɛlbɔdi