Yu smɔl pikin gɛt dis strenj sik? - Lɛ wi lan bɔt Lesch-Nyhan Syndrome

Yu smɔl pikin de mek insɛf fil bad? Yu dɔn ɛva si am bit in lip, bit in finga dɛn, ɔ bang in ed sɔmsay? We dat apin, i nɔmal fɔ mek yu, as mama ɔ papa, fil bad bad wan ɛn wɔri. Tide wi go tɔk bɔt dis kayn siriɔs, bɔt rili rare kɔndishɔn we dɛn kɔl Lesch-Nyhan Syndrome. A op se afta yu rid dis, yu go gɛt klia ɔndastandin bɔt dis.

Wetin na di sik we dɛn kɔl Lesch-Nyhan Syndrome? Lɛ wi ɔndastand am simpul wan!

Fɔ tɔk am simpul wan, di sik we dɛn kɔl Lesch-Nyhan Syndrome (LNS) na wan sik we nɔ kin apin so ɔltɛm we dɛn bɔn pikin . I kin mɔs afɛkt di pikin in bren ɛn di we aw i de biev. As wi bin dɔn tɔk, wan pan di men ɛn bad bad sayn dɛm fɔ dis sik na we di pikin de du bad to insɛf we i nɔ ebul fɔ kɔntrol am. Dat min tin dɛn lɛk fɔ bit dɛn lip, fɔ bit dɛn finga, ɔ fɔ bang dɛn ed pan tin dɛn lɛk di wɔl. Imajin aw smɔl pikin go fil pen we dɛn du dat.

Dis sik kin mek yu gɛt yurik asid, we na wan dɔti tin we kin apin na wi bɔdi, go ɔp. Risach pipul dεm sכspεkt se LNS de afekt bak di lεvεl dεm fכ di kεmikכl mεsenja dכpamin, we implεnt fכ mek di bren wok fayn fayn wan.

Pikin dɛn we gɛt dis sik we dɛn kɔl LNS kin gɛt wan bad bad at at sik we kin mek dɛn fil pen we dɛn kɔl gaut . Dɛn kin gɛt distɔnia ɛn mental retardation bak.

Bɔt i sɔri fɔ no se, no mɛrɛsin nɔ de fɔ mɛn di sik we dɛn kɔl Lesch-Nyhan syndrome. Di prɔgnosis nɔ fayn. Bɔt if yu gɛt di rayt tritmɛnt, yu kin ebul fɔ kɔntrol di sik dɛn we yu pikin gɛt, dɛn kin ridyus di prɔblɛm dɛn we kin apin to am, ɛn dɛn kin mek in layf bɛtɛ to sɔm mak.

Udat kin gɛt di sik we dɛn kɔl Lesch-Nyhan Syndrome?

Lesch-Nyhan syndrome na wan mɛtabolik disɔda we dɛn kin gɛt frɔm dɛn mama ɛn papa. Bɔku tɛm, i kin pas frɔm mama to pikin. I nɔ kin apin so ɔltɛm pan gyal pikin dɛn.

כltu, sכmtεm, ivin if nכ wan pan di famili nכ bin gεt dis jεnεtik sik bifo, dis `LNS` kכndyushכn kin apin bak bikoz fכ wan sכdεn chenj `(mכtεshכn)` insay wan spεsifi k jin `(HPRT1 jin)` we di pikin de gro insay di bεlε. `Jεnεtik tεst` kin fכnכt if pכsin gεt dis jin mכtεshכn we i gεt כ na nyu wan.

Ɔda tin dɛn de we tan lɛk Lesch-Nyhan syndrome (LHS)?

Yes, na tru tru sɔm ɔda kɔndishɔn dɛn de we de sho di sem kayn simptom to `LNS`. fכ egzampl, `autism spectrum disorder` εn `cerebral palsy` dεn tu gεt di sem kayn simptom dεm lεk `LNS`.So, i rili impɔtant fɔ gɛt kɔrɛkt diagnosis so dat yu pikin go gɛt di rayt tritmɛnt.

Na sɔm ɔda kɔndishɔn dɛn we fiba `LNS`:

• Cornelia de Lange syndrome - Dis na divεlכpmεnt dizayd bak.
• Dizautonomia we de na di famili.
• Fragile X sindrom we gɛt di sik.
• glukoz 6-fosfεt dihaydrojenεz (G6PD) dεfisiεns - Dis na jεnεtik kכndyushכn we de afekt rεd bכdi sεl dεm.
• `Hɛritεri sεns nyuropati`.
• Wan sik we dɛn kɔl Huntington.
• fכsfכribosyl payrofosfεt (PRPP) sεntez haypa aktiviti - dis de mek bak fכ prodyuz εksyכs fכ yurik asid.
• `Rɛt sindrom`.
• `Tourette sindrom`.

Difrɛn kayn Lesch-Nyhan syndrome (LHS) de?

De kayn sik wae kin pasmak, wae dɛn kɔl Classic Lesch-Nyhan syndrome (LNS), kin rili bad . I kin mek wi gɛt prɔblɛm wit wi bɔdi, maynd, ɛn aw pɔsin de biev. Bɔt ɔda kayn we dɛn de we nɔ kin izi fɔ gɛt dis sik. Pikin dɛm wae gɛt dis kayn sik nɔr kin gɛt bɔrku sayn dɛm. Dɛn nɔ kin du bad bak to dɛnsɛf ɛn dɛn nɔ kin gɛt prɔblɛm wit dɛn muvmɛnt.

Dɛn kayn sɔft kayn dɛn ya na:

• `HPRT1-rεlatεd nyurolכjik fכnshכn (HND)`.
• `HPRT1-rilayt haypayurisemia (Kelley–Seegmiller sindrom)` (HPRT1-rilayt haypayurisemia - Kelley–Seegmiller sindrom) - Dis na di kayn we we nɔ gɛt bɛtɛ trɛnk.

Us ɔda nem dɛn de fɔ di sik we dɛn kɔl Lesch-Nyhan syndrome (LHS)?

Dɛn kin kɔl dis sik bak wit sɔm ɔda nem dɛn. Dɛn na:

• `Koreoathetosis sεlf-mכtilεshכn sεndrכm`
• `Kכmplit haypoksantin-guanin fכsfכribosiltransfεrayz dεfisiεns`
• `Juvenile gout`
• `Juvenail haypayurisemia sindrom`
• `Kɛli-Sigmila sindrom`
• `Lesch Nyhan sik (LND)`
• `Praymari haypayurisemia sindrom`
• `Tɔtal HPRT dɛfisiɛns`
• `X-linked haypayurisemia`

Aw kɔmɔn tin na di Lesch-Nyhan Syndrome (LHS)?

Lesch-Nyhan syndrome na wan sik we nɔ kin apin so ɔltɛm . I kin afɛkt lɛk wan pan ɛvri 380,000 pipul dɛn . I kin apin mɔ pan bɔy pikin dɛn bak. Dɛn bin fɔs no dis sik insay 1964.

Wetin kin mek pɔsin gɛt di sik we dɛn kɔl Lesch-Nyhan Syndrome (LHS)?

Di men rizin fɔ dis nawan chenj, כ mכtεshכn, insay wan spεsifi k jin we dεn kכl `HPRT1 jin`. dis `HPRT1` jin de prodyuz wan rili imכtant εnzym we dεn kכl `HPRT`. εnzym na wan kayn protin we de mek di kεmikכl riakshכn dεm (mεtabolism) na wi bכdi spid εn i de εp di bכdi fכ wok.

imajin wetin de apin we dis `HPRT` εnzym nכ de wok fayn fayn wan. insay Lesch-Nyhan sεndrכm, di bכdi n כ kin yuz kεmikכl dεm we dεn kכl `purines` fayn fayn wan . we dεn nכ yuz dεn purin dεm ya fayn fayn wan, dεn kin tכn to `yurik asid`. Dis na dɔti tin we de insay wi blɔd.

nכmal wan, mכst pan dis `yurik asid` de pas tru di kidni dεm εn i de kכmכt na di urine. כltu, insay Lesch-Nyhan sεndrכm, `yurik asid` (yurik asid) de kכmכt na di bכdi we pasmak (hyperuricemia) .

dis yurik asid we pasmak de dכpכt lεk sכm sכm stכn dεm, כ yurayt kristכl, na di skin, an, εn fut. Dɛn kristal ya kin pwɛl di jɔyn dɛn ɛn mek wan sik we dɛn kɔl gaut.

Dɔn bak, dɛn smɔl ston ya kin fɔm na di kidni ɔ di blad, we kin mek di urine nɔ flɔ ɛn mek pɔsin fil pen. Sɔm siriɔs kes dɛm, ɔl tu di kidni dɛm kin stɔp fɔ wok (renal failure).

Wetin na di sayn dɛm wae de sho se yu gɛt Lesch-Nyhan Syndrome (LHS)?

Di sayn dɛm wae kin kam pan pikin dɛm wae gɛt Lesch-Nyhan syndrome kin afɛkt dɛn maynd, muvmɛnt, ɛn bihayvya . Wiknɛs pan di mɔsul kɔntrol ɛn di divɛlɔpmɛnt delay na sɔm pan di fɔs sayn dɛm fɔ di kɔndishɔn.

Sɔm pikin dɛn kin gɛt ɔrɛnj kristal na dɛn dayapɛt if dɛn gɛt tumɔs yurik asid na dɛn bɔdi. Bɔt bɔku pikin dɛn we gɛt dis sik nɔ kin sho ɛni klia sayn te dɛn ol lɛk 4 mɔnt.

Bɔrku sayn de wae mama ɛn papa ɛn dɔktɔ kin si. Lɛ wi luk dɛn wan bay wan:

Fɔ du bad to yusɛf ɛn ɔda pipul dɛn

Fɔ mek pɔsin injɔri insɛf na di mak fɔ di sik we dɛn kɔl Lesch-Nyhan syndrome, we na wan sik we kin apin afta di pikin bigin fɔ pul in tit. Dis bihayvya kin inklud:

• Fɔ nak yu ed ɔ yu an ɛn fut dɛn sɔmsay.
• Lip, finga, ɛn chɛk we de bit.
• Stinging na di yay.

Sɔmtɛm, pikin dɛm wae gɛt dis sik kin tray fɔ du bad to ɔda pipul dɛm. Dɛn kin tɔk bad, ol, bit, bit, ɔ spit ɔda pipul dɛn . I go mɔs bi se i rili sɔri ɛn i nɔ go ebul fɔ ɛp mama ɔ papa fɔ si dis, nɔto so?

Prɔblɛm dɛn we gɛt fɔ du wit di mɔsul ɛn muvmɛnt

Ɔda sayn dɛm wae kin kam pan pɔrsin na prɔblɛm wit aw pɔrsin kin kɔntrol in mɔsul dɛm. Dɛn tin ya na:

• Ballismus na di muv we di an ɔ fut de muv bak di sem we.
• I nɔ izi fɔ kray, waka, ɔ it wit yu an.
• I nɔ izi fɔ swɛla (dysphagia).
• Hyperreflexia we pɔsin kin gɛt.
• di bow fכ di spayna bikoz fכ di mכsul dεm we de kכntrikshכn `(opisthotonos)`.
• Muvmɛnt we yu nɔ want (dystonia) ɔ chenj na yu fes.
• di muvmεnt dεm we yu de jכk, twist, εn writh we yu nכ want (choreoathetosis).
• Muvmɛnt dɛn we de jɔk wantɛm wantɛm (chorea).
• di muvmεnt we de kכmכt bikoz fכ di mכsul dεm we stif כ rigiditi (spasticity).
• Fɔ tɔk smɔl ɔ fɔ tɔk sloslo (dysarthria).

Wɛlbɔdi prɔblɛm dɛn

Pikin dεm we gεt Lesch-Nyhan sεndrכm kin gεt sכm hεlth prכblεm bikoz fכ di akyumyuleshכn fכ `uric acid` na di bכdi. Dɛn tin ya na:

• Ston dɛn we de na di blad.
• Kidni we nɔ de wok fayn.
• Kidni ston dɛn.
• Gout we pɔsin kin gɛt.
• Megaloblastic anemia we kin kam bikɔs yu nɔ gɛt vaytamɛn B12.
• Fɔ vɔmit ɔltɛm.

Prɔblɛm dɛn we pɔsin kin gɛt we i de lan

Pikin dɛn kin gɛt prɔblɛm dɛn bak lɛk:

• Disabiliti fɔ lan.
• Prɔblɛm dɛn na yu maynd lɛk we yu nɔ de mɛmba ɔ we yu nɔ de pe atɛnshɔn.
• I nɔ izi fɔ plan kɔmpleks tin dɛn.

Aw dɛn kin no se pɔsin gɛt di sik we dɛn kɔl Lesch-Nyhan Syndrome (LHS)?

Yu kin notis sɔm sayn dɛn na yu pikin. Ɔ, dɔktɔ kin notis di kayn we aw pɔsin de biev we i de du ɛgzam ɔltɛm. Di wan dɛn we de kia fɔ wɛlbɔdi biznɛs kin no if pɔsin gɛt di sik we dɛn kɔl Lesch-Nyhan syndrome bay we dɛn de chɛk dɛn bɔdi .

Dɛn go aks bak bɔt yu pikin in sik ɛn famili mɛdikal histri. Dɛn go luk bak fɔ sayn dɛn lɛk:

• Divɛlɔpmɛnt dilɛys.
• If yu tɛst yu blɔd ɔ yu urine, yu go no if yu yurik asid lɛvɛl dɔn go ɔp.
• Di we aw pɔsin de biev we i de du bad to insɛf.

Us ɔda tɛst dɛn kin ɛp fɔ no if pɔsin gɛt di sik?

Yu dɔktɔ kin tɛl yu fɔ du blɔd tɛst ɛn jenɛtik tɛst fɔ no if yu gɛt di sik ɛn fɔ mek yu nɔ no ɔda sik dɛn. Fɔ tɛst di jɛnɛtiks, dɛn kin tek smɔl blɔd. Afta di jenɛtik tɛst, wan jɛnɛtik advaysa go tɔk to yu bɔt di rizɔlt.

If pɔsin na yu famili gɛt Lesch-Nyhan syndrome, ɛn yu gɛt bɛlɛ, tɔk to yu dɔktɔ bɔt am. Yu dɔktɔ kin tɛl yu fɔ du tɛst bifo yu bɔn, mɔ if yu no se yu pikin na bɔy pikin. Dis tɛst we dɛn kin du bifo dɛn bɔn pikin kin inklud:

• Amniocentesis we dɛn kin yuz.
• Sampling fɔ di chorionic villus.

Yu tink se mɛrɛsin de fɔ di sik we dɛn kɔl Lesch-Nyhan Syndrome (LHS)?

Bɔt i sɔri fɔ no se, no mɛrɛsin nɔ de fɔ mɛn di sik we dɛn kɔl Lesch-Nyhan syndrome, ɛn di tritmɛnt we dɛn kin gɛt nɔ bɔku. Bɔt, di wan dɛn we de kia fɔ yu pikin kin ɛp yu ɛn yu pikin fɔ kɔntrol di sik dɛn ɛn gɛt bɛtɛ kwaliti layf.

Udat go de pan mi pikin in Lesch-Nyhan Syndrome (LHS) tritmɛnt tim?

If yu pikin gɛt Lesch-Nyhan syndrome, wan tim we gɛt difrɛn spɛshal pipul dɛn ɛn wɛlbɔdi wokman dɛn go ɔltɛm kɔba di ful spɛktrum fɔ di sik dɛn. Dis tim kin gɛt:

• Wan pɔsin we sabi bɔt di jɛnɛtiks.
• Wan spɛshal pɔsin we sabi bɔt kidni (nɛfrɔlɔjis).
• Wan dɔktɔ we de stɔdi bɔt nyurolɔji.
• Wan ɔkupeshɔn tɛrapist.
• Wan dɔktɔ we de mɛn pikin dɛn.
• Wan dɔktɔ we de mɛn pɔsin in bɔdi.
• Wan soshal woka.
• Wan dɔktɔ we de stɔdi bɔt aw pɔsin kin tɔk ɛn langwej.
• Dɔktɔ we spɛshal pan di urinary system (urologist).

Aw dɛn kin trit di sik we dɛn kɔl Lesch-Nyhan Syndrome (LHS)?

Di tritmɛnt fɔ di sik we dɛn kɔl Lesch-Nyhan syndrome de dipen pan di sik dɛn we yu pikin gɛt ɛn aw dɛn kin tranga.

Nyu bɔn pikin ɛn smɔl pikin dɛn kin nid ɛkstra supavayshɔn ɛn sɔpɔt we dɛn de gi dɛn tin fɔ it .

Yu wɛlbɔdi biznɛs pɔsin kin tɛl yu fɔ du tin dɛn lɛk:

• Mɛrɛsin fɔ kɔntrol di ay yurik asid lɛvɛl ɔ fɔ pul di prɔblɛm dɛn we de wit di we aw pɔsin de biev.
• Ɛp fɔ gi tin fɔ it ɔ fɔ swɛla.
• Di tin dɛn we pɔsin kin yuz fɔ ɛp, lɛk wilchia, fɔ mek i izi fɔ muv.
• Fizik tɛrapi ɛn ɔkupeshɔn tɛrapi.
• Di tin dɛn we de protɛkt yusɛf lɛk splint ɔ mɔt gad fɔ mek yu nɔ muv we yu nɔ want lɛk fɔ bit yu finga.
• di tin dεm we dεn kin du lεk shockwave lithotripsy כ laser lithotripsy fכ brok di kidni כ blad ston dεm.

A kin ridyus di risk fɔ mek mi pikin gɛt di sik we dɛn kɔl Lesch-Nyhan Syndrome (LHS)?

Infakt, no we nɔ de fɔ mek dɛn nɔ gɛt di sik we dɛn kɔl Lesch-Nyhan syndrome. i de kכz fכ di jεnεtik chenj dεm (mכtεshכn) we de apin we di pikin de gro na di bεlε. Nɔtin we yu de du nɔ go mek yu gɛt dis sik. Mɛmba dat. sכm tεm dεm, dεn kin du tεst bifo dεn bכn fכ no di jεnεtik mכtεshכn.

Wetin na di luk fɔ pikin we gɛt Lesch-Nyhan syndrome (LHS)?

Di lukin-grɔn fɔ pikin dɛn we gɛt Lesch-Nyhan syndrome nɔ kin fayn . Bɔku tɛm, dɛn nɔ kin ebul fɔ waka ɛn dɛn nid wilchia. Bɔku pan dɛn kin liv shɔt layf . Bikɔs ɔf di kɔmplikeshɔn dɛm wae de kam wit dis sik, i nɔr kin izi fɔ mek pipul dɛn liv pas 20 ia. Bɔt, wan tritmɛnt tim kin ɛp yu ɛn yu pikin fɔ kɔntrol di sayn dɛm ɛn ɛp yu pikin fɔ fil fayn ɛn du tin dɛm as yu ebul.

Ustɛm a fɔ go to dɔktɔ fɔ advays mi pikin?

I impɔtant fɔ no di sik we dɛn kɔl Lesch-Nyhan syndrome kwik kwik wan . Di wan dɛm wae de gi yu wɛl bɔdi biznɛs kin gi yu ɛn yu pikin sɔpɔt ɔltɛm ɛn ɛp fɔ mek yu gɛt sɔm kayn sik. Yu dɔktɔ go wok wit yu fɔ mek wan tritmɛnt plan fɔ yu pikin in nid we de chenj.Krio wan pɔsnalayz kia plan.

Bɔku mama ɛn papa dɛn kin fil bad bad wan ɛn dɛn nɔ kin ebul fɔ du ɛnitin afta dɛn dɔn no se dɛn gɛt di sik we dɛn kɔl Lesch-Nyhan syndrome. Wi ɔndastand se dis na sik we nɔ kin apin so ɔltɛm we dɛn nɔ kin gɛt ɛni mɛrɛsin fɔ am. Bɔt if dɛn no di pikin kwik kwik wan ɛn trit am, dat kin rili ɛp fɔ mek di pikin in layf bɛtɛ. Tɔk to yu dɔktɔ bɔt di fayn tritmɛnt dɛn we kin mek difrɛns as yu pikin de gro.

Fɔ dɔn, mɛsej we yu kin kɛr go na os

Okay, so frɔm wetin wi dɔn tɔk bɔt, a op se yu dɔn gɛt sɔm insayt pan Lesch-Nyhan Syndrome. Dis na tin we nɔ kin apin so ɔltɛm, ɛn we kin rili tranga fɔ pikin ɛn famili.

• Dis na jεnεtik sik: bכku tεm i kin pas frכm mama to pikin, כ i kin kכz fכ nyu jεnεtik mכtεshכn.
• Di men sayn na fɔ du bad to yusɛf: i kin mek bak yu gɛt prɔblɛm wit yu mɔsul dɛm, tin dɛm lɛk gaut, ɛn nɔr kin ebul fɔ lan.
• No mɛrɛsin nɔ de fɔ mɛn di sik, bɔt wi kin kɔntrol di sayn dɛm: wit difrɛn tritmɛnt dɛm ɛn di sɔpɔt we wan tim we gɛt spɛshal dɔktɔ dɛn kin gi, wi kin tray fɔ mek di pikin in layf fayn as wi ebul.
• Fɔ no di sik kwik kwik wan rili impɔtant: If yu notis di sayn dɛm, go to dɔktɔ wantɛm wantɛm.
• Nɔto yu wan de: I kin tranga fɔ mek yu maynd strɔng pan dis kayn tin. Bɔt, aks fɔ sɔpɔt frɔm dɔktɔ dɛn, advaysa dɛn, ɛn pipul dɛn we yu lɛk.

A op se dis infɔmeshɔn go ɛp yu. If yu pikin gɛt ɛni wan pan dɛn sik ya, duya go to dɔktɔ we sabi du di wok kwik kwik wan.

` Lesch-Nyhan Syndrome, LNS, HPRT1 jin, yurik asid, gaut, sεlf-injuri, jεnεtik dizכrd, pikin dεm, jεnεtik sik dεm, yurik asid