Ðe cystine ƒo ƒu ɖe wò ŋutilã ƒe lãmenugbagbeviwo mea? Woyɔa esia be cystinosis!

Bu eŋu kpɔ, nukae adzɔ ne amino acid aɖe si woyɔna be `(cystine)` (cysteine) dze ƒoƒo ƒu ɖe lãmenugbagbevi suesuesue siwo le míaƒe ŋutilã me la me? Emae nye nɔnɔme si woyɔna be `(Cystinosis). Esia nye domenyiŋusẽfianu ƒe dɔléle si mebɔ o si womekpɔna zi geɖe o, gake ele be woabui be ele vevie ŋutɔ. Ne `(cystine)` ƒo ƒu ɖe lãmenugbagbeviwo me akpa la, lãmenugbagbevi mawo ateŋu agblẽ. Ne míagblɔe tututu la, `(cystine)` sia nana kristalo suewo dzɔna le lãmenugbagbeviwo me, eye ne woƒo ƒu la, wohea kuxiwo vɛ na ŋutinu kple lãkusi vovovowo le míaƒe ŋutilã me. Mina míaƒo nu tso `(Cystinosis)` sia ŋu tsitotsito eye egbea ko, enyo?

Nukae nye Cystinosis? Mina míase egɔme pɛpɛpɛ!

Kpuie ko la, cystinosis nye domenyiŋusẽfianu ƒe nɔnɔme . Nusi dzɔna le esia me enye be amino acid `(cystine)` (cysteine) ƒoa ƒu ɖe míaƒe lãmenugbagbeviwo me. Ènyaa, amino acidwo le vevie ŋutɔ na míaƒe ŋutilã. Gake ne `(cystine)` sia le lãmenugbagbeviwo me wògbɔ eme la, egblẽa nu le lãmenugbagbeviawo ŋu. Le `(cystine)` si sɔ gbɔ sia ta la , kristalo suewo abe nuwo ene dzɔna le lãmenugbagbeviwo me. Kristmas siawo ƒoa ƒu vivivi eye wodzea nu gbegblẽ wɔwɔ gɔme le míaƒe ŋutilã ƒe ŋutinu kple lãkusi vovovowo ŋu.

Zi geɖe la , cystinosis gblẽa nu le ayiku kple ŋkuwo ŋu . Gake ate ŋu agblẽ nu le ahɔhɔ̃, lãmeka, aklã, lãkusi, dɔgbo, kple le ŋutsuwo gome la, vidzidɔ hã ŋu.

Esia mebɔ kura o, si fia be edzea ame abe ɖeka le akpe ɖeka me ene dzi. Gake enye dɔléle si nu sẽ ŋutɔ, si xɔa ame ƒe agbemeŋkekewo katã . Gake ne wokpɔe dze sii kaba eye wodae nyuie la, woate ŋu aɖu dɔlélea ƒe ŋgɔyiyi kple eƒe sesẽ dzi akpa gãtɔ. Gake ayikudɔléle si le eƒe nuwuwu va dzea ame geɖe dzi mlɔeba eye wòhiãna be woado ayiku na wo.

Ðe cystinosis ƒomevi vovovowo lia?

Ẽ, cystinosis ƒomevi vevi etɔ̃e li. Woda ƒomevi siawo ɖe hatsotsowo me le ƒe si me dzesiawo dze zi gbãtɔ (i.e. esime dɔlélea dze egɔme) kple alesi dzesiawo nu sẽe nu.

1. Nephropathic cystinosis (vidzĩ ƒe ƒomevi) .

Esiae nye ƒomevi si bɔ wu . Ame siwo ŋu cystinosis le la dometɔ siwo ade 95% ye ƒomevi sia le wo ŋu. Enye ƒomevi si nu sẽ wu hã . Wogayɔnae be vidzĩ ƒe cystinosis.

Vidzĩ siwo ŋu `(Nephropathic cystinosis)` sia le la va xɔa nɔnɔme tɔxɛ aɖe si gblẽa nu le ayikuwo ŋu . Woyɔa esia be `(ayiku ƒe Fanconi ƒe dɔléle)`. Le nɔnɔme sia me la, tomenu kple nunyiame bubu siwo míaƒe ŋutilã hiã la megena ɖe ʋua me nyuie o, ke boŋ woɖea wo doa goe le aɖuɖɔ me. Bu eŋu kpɔ, ne ɖevi sue aɖe ƒe ŋutilã bu nusiwo wòhiã le mɔ sia nu la, .Vidzĩa ƒe tsitsi tsia megbe, ƒuwo gbɔdzɔna, woate ŋu abɔbɔ (woyɔa esia hã be ``rickets''), eye kuxi bubu geɖewo ateŋu ado mo ɖa.

Zi geɖe la, ne ɖevi xɔ ƒe eve la , cystine crystals dzea wɔwɔ gɔme le ŋkume ƒe ŋkume. Kristal siawo ƒoa ƒu, eye le ɣeyiɣi aɖe megbe la, ŋkuwo va sea kekeli nu (fotophobia). Esia ate ŋu ana ŋku nase veve vevie eye wòase veve . Ðeko wòle abe ŋkuwo trɔna zua blɔ ne wodo wo ɖe ɣe ƒe keklẽ me ene.

Ðevi siwo ŋu `(Nephropathic cystinosis)` sia le la hiã ayiku dodo na wo godoo. Ne womewɔ atike na ɖevi siawo o la, ate ŋu azu dɔmawɔmawɔ kura hafi woxɔ ƒe 10. Gake ne wowɔ atike na ɖevi siawo nyuie la, woate ŋu anɔ agbe vaseɖe tsitsime kple agbenɔnɔ nyui.

2. Cystinosis si le domedome (ɖeviwo ƒe gɔmedzedze ƒomevi) .

Wogayɔa esia be ƒewuiviwo alo ɖeviwo ƒe cystinosis. Dzesiawo sɔ kple vidzĩ ƒe cystinosis tɔ, gake dzesiawo dzena le ɖevimenɔɣi alo ƒewuiwo ƒe nuwuwu . Dzesiawo ate ŋu anɔ bɔbɔe alo ate ŋu asẽ ɖe edzi le ɣeyiɣi aɖe megbe.

Ame siwo ŋu cystinosis sia ƒomevi le la ahiã be woado ayiku na wo mlɔeba. Ne womewɔ atike na ayikuawo o la, ate ŋu azu dɔmawɔmawɔ kura le ƒe 15-25 me .

3. Non-nephropathic cystinosis (si ƒomevi si gblẽa nu le ŋkuwo ko ŋu) .

Wogayɔa esia be benign cystinosis, alo ŋku ƒe cystinosis. Ŋkuwo koe ƒomevi sia gblẽa nu le eŋu . Cystine kristalo dzɔna le ŋkua ƒe ŋkume ƒe ŋkume, si wɔnɛ be keklẽŋusẽ vɔvɔ̃ na ame. Gake ayiku ƒe gbegblẽ alo dzesi bubu aɖeke menɔa amesiwo ŋu dɔléle sia ƒomevi le akpa gãtɔ ŋu o .

Ƒe si woxɔna be woakpɔ dɔléle sia (Non-nephropathic cystinosis) ate ŋu ato vovo, elabena dzesiawo mebɔ o. Gake zi geɖe la, edzea ame tsitsi siwo xɔ ƒe titina dzi.

Amekae xɔa cystinosis?

Cystinosis nye domenyiŋusẽfianu ƒe dɔléle si ate ŋu adze ame sia ame dzi . Wonyia dɔlélea ƒe dome le autosomal recessive pattern me. Esia fia be ele be dzila evea siaa natsɔ domenyiŋusẽfianu si trɔ si na dɔlélea . Ne dzila eveawo siaa nye domenyiŋusẽfianu si trɔ (si fia be dzesi aɖeke mele wo ŋu o, gake domenyiŋusẽfianua le wo si) la, mɔnukpɔkpɔ 25% (ɖeka le ene ɖesiaɖe me) li be woadzi vi si ŋu cystinosis le.

Aleke gbegbee dɔléle sia bɔe?

Cystinosis nye dɔléle si mebɔ kura o . Le xexeame katã la, vidzidzi 100,000 va ɖo 200,000 ɖesiaɖe me koe wògblẽa nu le.

Aleke cystinosis kpɔa ŋusẽ ɖe míaƒe ŋutilã dzii?

Cystinosis nye dɔléle si le dɔlélewo ƒe hatsotso si woyɔna be `(lysosomal storage disorder)` me. Bu eŋu kpɔ, le míaƒe lãmenugbagbeviwo me la , ŋutinu suesuesue siwo woyɔna be `(lysosomes)` . Esiawo le abe gaxɔa me gbeɖuɖɔgowo ene. Wogbãa nunyiamewo abe carbohydrates, protein, kple ami ene. Protein aɖewo wɔa dɔ abe `(enzymes)` ene eye wokpena ɖe ŋutilã ŋu wòxɔa nunyiame siawo. Protein bubu aɖewo wɔa dɔ abe `(transporters)` ene. Eyae nye be, mɔzɔla siawo xɔa `(cystine)` si susɔ tso nu mawo siwo gblẽ me la doa goe le lysosomes la me.

Fifia, ne èbu mɔzɔzɔ protein mawo dometɔ ɖeka la, `(cystine)` mateŋu ado le lysosomes me o eye wòdzea ƒoƒo ƒu ɖe lãmenugbagbeviwo me. Ɣemaɣie `(cystine)` wɔa ƒuƒoƒo, siwo gblẽa nu le ŋutinuwo ŋu.

Nukawoe nye cystinosis ƒe dzesiwo?

Dzesiawo kple woƒe sesẽme toa vovo le ƒe si me dɔlélea dze egɔme kple ɣeyiɣi si wokpɔe nu.

Zi geɖe la , nephropathic cystinosis (vidzĩ ƒe nɔnɔme) ƒe dzesiwo dzea egɔme tso ɣleti 6 va ɖo 18 , ne ayikuawo gblẽ. Esiawoe nye dzesi vevitɔwo:

• Tsikɔwuame si gbɔ eme (polydipsia).
• Aɖuɖɔɖɔɖɔ fũu akpa (polyuria).
• Elektrikŋusẽ ƒe masɔmasɔ le ŋutilãa me.
• Ʋuʋudedi.
• Tsikuɖiɖi.
• Asrã.

Dzesi bubuwo ate ŋu anye:

• Ƒuwo ƒe gbɔdzɔgbɔdzɔ, ƒuwo ƒe ʋuʋu.
• Do kpo nu le dzidzedzekpɔkpɔ me.
• Ŋku ƒe ŋkume ƒe abi alo alilikpo dodo.
• Kekeli ƒe seselelãme (fotovɔvɔ̃).
• Nukpɔkpɔ ƒe gbɔdzɔgbɔdzɔ.
• Nu mimi sesẽ (dysphagia).

Dzesi siwo dzena le domedome cystinosis (ɖeviwo ƒe nɔnɔme) ŋu sɔ kple vidzĩ ƒe nɔnɔme tɔ. Ke hã, wodzea dzedze gɔme le ɖevimenɔɣi alo ƒewuiwo ƒe nuwuwu. Azɔ hã, ɖewohĩ dzesiawo masẽ boo o. Dzesi bubu siwo woate ŋu akpɔ le nɔnɔme sia me dometɔ aɖewoe nye:

• Ðeɖiteameŋu, ɖeɖiteameŋu.
• Lãmetsiwo ƒe gbɔdzɔgbɔdzɔ .
• Lãmetsidɔ `(myopathy)` (myopathy).
• Eƒe kɔkɔme le kpuie.
• Ƒewuiwo ƒe heheɖemegbe.
• Vidzidzimakpɔmakpɔ.

Ŋku ƒe cystinosis (non-nephropathic cystinosis) gblẽa nu le ŋkua ƒe ŋkumeʋuʋu ŋu ko. Zi geɖe la , fotovɔvɔ̃ koe nyea dzesi . Dzesi aɖeke meli si do ƒome kple ayiku o.

Nukawoe hea cystinosis vɛ?

Esia tso domenyiŋusẽfianu ƒe tɔtrɔ le domenyiŋusẽfianu si woyɔna be CTNS me gbɔ.. `(CTNS)` domenyiŋusẽfianu sia fiaa mɔ míaƒe ŋutilã be wòawɔ protein si woyɔna be `(cystinosin)`. `(Cystinosin)` nye protein si tsɔa nu yia teƒe bubuwo si míeyɔ va yi. Eyae nye be eƒe dɔe nye be wòaɖe amino acid `(cystine)` ado goe le lysosomes me.

Eyata ne tɔtrɔ aɖe va le `(CTNS)` domenyiŋusẽfianu me la, gbɔdzɔgbɔdzɔ aɖe nɔa `(cystinosin)` protein la me. Emegbe la, `(cystine)` mateŋu ado le lysosomes me o eye wòdzea ƒoƒo ƒu gɔme. Ɣemaɣie ƒunukpeƒeawo dzɔna eye wogblẽa nu le lãmenugbagbevi siwo le ŋutinuwo me ŋu.

Wogblɔ tso gbaɖegbe ke be esia nye domenyinu le ``autosomal recessive pattern'' me. Esia fia be ele be dzila evea siaa nanye domenyiŋusẽfianu sia si trɔ (dzesi aɖeke mele wo ŋu o) tsɔlawo . Ne dzila evea siaa nyi domenyiŋusẽfianu sia si trɔ la ƒe dome ko hafi ɖevia axɔ dɔléle sia.

Aleke wowɔna dea dzesi Cystinosis?

Wò ɖɔkta abia nya wò tso wò dzesiwo kple wò ƒomea ƒe atikewɔwɔ ŋutinya ŋu. Emegbe awɔ ŋutilãmedɔ eye wòaɖe gbe be woawɔ dodokpɔ geɖe atsɔ anya dɔlélea.

Dodokpɔ kawoe wole wɔwɔm na esia?

Ðɔktaa ate ŋu awɔ dodokpɔ siawo:

• Ʋudodokpɔ: Woɖea wò ʋu ƒe kpɔɖeŋu aɖe eye wokpɔa cystine ƒe agbɔsɔsɔ le ʋumenugbagbevi ɣiawo me.
• Domenyiŋusẽfianu dodokpɔ: Domenyiŋusẽfiala aɖe akpɔe ɖa be tɔtrɔ aɖewo le wò (CTNS) domenyiŋusẽfianu me hã.
• Aɖuɖɔtoe me dzodzro: Woɖea aɖuɖɔ ƒe kpɔɖeŋu eye woléa ŋku ɖe eŋu be mineral, nunyiame, dze, kple amino acid siwo sɔ gbɔ ɖe eme hã.
• Ŋkudodokpɔ: Ŋkudɔdala azã nusuekpɔmɔ̃ tɔxɛ aɖe (akaɖi si me ʋuʋudedi le) atsɔ adi cystine kristalo siwo le wò ŋkume ƒe ŋkume.

Ne èfɔ fu eye cystinosis le wò ƒomea me, eye wokpɔe be wò kple wò zɔhɛ siaa mienye amesiwo tsɔa fu la, woate ŋu awɔ dodokpɔ do ŋgɔ na vidzidzi, abe amniocentesis ene, atsɔ anya ne dɔlélea le viwòa ŋu . Esia bia be woaɖe lãmenugbagbeviwo tso vidzidɔ me tsi si ƒo xlã vidzĩa me ahalé ŋku ɖe cystine ƒe agbɔsɔsɔ ŋu hã.

Woateŋu azã dodokpɔ bubu si woyɔna be ``chorionic villus sampling`` hã. Esia doa lãmenugbagbevi siwo le vidzidɔa me kpɔna.

Nukawoe nye atike siwo wozãna na cystinosis?

Atike si woyɔna be Cysteamine

Atike vevitɔ si wozãna na cystinosis enye atike aɖe si woyɔna be cysteamine . Esia nye atike si ɖea cystine dzi kpɔtɔna. Esia fia be eɖea cystine ƒe agbɔsɔsɔ si le wò lãmenugbagbeviwo me dzi kpɔtɔna.

Ne wodze atike sia `(cysteamine)` gɔme kaba la, woate ŋu aɖu ayiku ƒe gbegblẽ dzi le akpa gãtɔ me eye wòahe ɖe megbe.. Atike sia kpe ɖe eŋu wòhe ayiku dodo na ame ƒe hiahiã ɖe megbe. Ðevi aɖewo te ŋu he ayiku dodo ɖe megbe va se ɖe esime wova tsi. Azɔ hã, atike sia nana ɖevi siwo ŋu dɔlélea le ƒe tsitsi nyona ɖe edzi.

`(Cysteamine)` ƒomevi eve li: `(CystagonTM)` kple `(ProcysbiTM)` (esiawo nye adzɔnu ƒe ŋkɔwo). Ele be woano `(CystagonTM)` gaƒoƒo ade ɖesiaɖe. `(ProcysbiTM)` (na amesiwo xɔ wu ƒe 6) ƒe nutsyɔnu tɔxɛ aɖe le eŋu, eyata woateŋu anoe gaƒoƒo 12 ɖesiaɖe.

Atike si wozãna ɖaa `(cysteamine)` medaa `(cystine)` kristalo siwo le ŋku ƒe ŋkume ƒe ŋkume o. Le esia ta la, ŋkumeɖonu ƒomevi eve li siwo dzi United States ƒe Nuɖuɖu Kple Atike Ŋuti Dɔwɔƒe da asi ɖo `(FDA): `(CystaranTM)` kple `(CystadropsTM)`. Ele be nàsi tsi siawo abe zi ɖeka le gaƒoƒo ɖeka me esime nèle ŋudzɔ. Wolɔa kristalo siwo le ŋkume ƒe ŋkume eye woɖea kekeli ƒe seselelãme dzi kpɔtɔna.

Atikewɔwɔ bubuwo

Ðevi siwo ŋu cystinosis le ate ŋu ahiã be woawɔ atike bubuwo na wo, le woƒe dzesiwo nu. Fanconi ƒe dɔlélea dada dometɔ aɖewoe nye:

• No tsi kple elektrikŋusẽ geɖe (be nàxe mɔ ɖe tsi ƒe gege fũu akpa le ŋutilãa me nu).
• Atike si woatsɔ ana ŋutilãa ƒe dze nada asɔ.
• Atike si woatsɔ aɖɔ nusi gblẽ le ayikuwo ƒe phosphate ƒe xɔxlɔ̃ ŋu ɖo.

Atike bubu siwo wozãna na cystinosis dometɔ aɖewoe nye:

• Tsitsi ƒe lãmetsiŋusẽtike.
• Ne suklidɔ si nɔa te ɖe insulin dzi le ŋuwò la, ke èhiã insulin.
• Wozãa testosterone na ŋutsu siwo ŋu hypogonadism, si nye nɔnɔme si me vidzidɔa mewɔa dɔ nyuie o.
• Nuƒoƒo kple gbegbɔgblɔ ƒe atikewɔwɔ.
• Domenyiŋusẽfianu ŋuti aɖaŋuɖoɖo.

Ðewohĩ ahiã be woana nuɖuɖu ɖevi aɖewo siwo nuɖuɖu sesẽna na to mɔ̃ (gastronomy tube) me. Wozãa mɔ̃ sia tsɔ naa nunyiame nyuitɔ eye wonaa atike.

Woate ŋu ada ŋku ƒe cystinosis, si gblẽa nu le ŋkuwo ko ŋu hã le mɔ siwo gbɔna nu:

• Ƒo asa na kekeli si klẽna.
• Ɣe ƒe ŋkumewu dodo.
• Ŋkuwo ƒe tsidzadza nana.
• Ƒã ŋutɔ la, ate ŋu ahiã be woado ŋkume ƒe ŋkume ƒe ŋkume.

Ayiku dodo na ame

Ne wokpɔ amesiwo ŋu ayikudɔ kple domedome cystinosis le kaba heda dɔ nɛ kaba gɔ̃ hã la, ayiku megawɔa dɔ nyuie o mlɔeba. Le gɔmedzedzea me la, wò ɖɔkta ate ŋu atsɔ ʋumenugbagbeviɣidɔ ada ayiku ƒe dɔmawɔmawɔ nyuie. Dialysis nye mɔ̃ si xɔa dɔ siwo wò ayiku wɔna la dometɔ aɖewo. Eɖea gbeɖuɖɔwo ɖa le wò ʋu me eye wòkpena ɖe ŋuwò be atike aɖewo ƒe agbɔsɔsɔ si sɔ nanɔ wò ŋutilã me. Gake ayiku ƒe dɔmawɔmawɔ nyuie nye nusi womate ŋu atrɔ o, eye mlɔeba la, ehiã be woado ayiku na ame .

Ayiku dodo kpɔa dzidzedze ŋutɔ na amesiwo ŋu cystinosis le. Ayiku si wotsɔ na la meƒoa cystine nu ƒu o . Gake cystine ate ŋu aƒo ƒu ɖe wò ŋutilã ƒe ŋutinu bubuwo me kokoko. Eyata ahiã be nàno atike le wò agbemeŋkekewo katã me .

Ðe atikewɔwɔa ƒe nugbegblẽ aɖewo lia?

Atike si nye `(cysteamine)` ƒe ʋeʋẽ lilili vie eye eƒe vivi mevivina o . Eyata ame aɖewo ate ŋu ase veve, aɖuɖɔtoe, kple dzimeve ne wole atike sia nom. `(cysteamine)` ateŋu ana hã be dɔgbo me acid si sɔ gbɔ nado. Ame aɖewo noa atikewo abe `(proton pump inhibitors)` tsɔ ɖea dɔgbo me acid dzi kpɔtɔna. Esia ate ŋu aɖe woƒe dɔgbo ƒe dzesiwo dzi akpɔtɔ. `(cysteamine)` ateŋu ahe gbɔgbɔtsixe `(halitosis)` kple gbɔgbɔtsixe ƒoƒo hã vɛ.

Ðe woate ŋu axe mɔ ɖe Cystinosis nua?

Cystinosis nye domenyiŋusẽfianu ƒe dɔléle, eyata womate ŋu axe mɔ ɖe enu o . Ne èfɔ fu alo nèle ɖoɖo wɔm be yeafɔ fu la, àte ŋu abu domenyiŋusẽfianu dodokpɔ be yeanya ne viwòa ate ŋu axɔ dɔlélea hã.

Nukae nye mɔkpɔkpɔ na amesi ŋu cystinosis le? / Ɣeyiɣi didi kae woate ŋu anɔ agbe?

Ɣeaɖeɣi la, nephropathic cystinosis nye dɔléle si wua ɖevi suewo. Gake egbea esi woto atike si nye cysteamine vɛ eye ayiku dodo ɖe ŋgɔ va le ŋgɔ yim ta la, wokeke amesiwo ŋu cystinosis le ƒe agbenɔƒe ɖe enu va ɖo tsitsime . Ame aɖewo nɔa agbe va ɖoa ƒe 50 kple edzivɔ.

Cystinosis ƒe dzesidede kaba le vevie. Ne woda dɔa nyuie la, woate ŋu aɖu dɔlélea dzi. Ne womewɔ atike na ɖevi siwo ŋu cystinosis le o la, ayiku awɔ dɔ nyuie hafi woaxɔ ƒe 10. Ne wowɔ atike na ɖevi geɖe gɔ̃ hã la, ayiku agblẽ le woƒe ɖevime alo woƒe ƒewuiwo ƒe nuwuwu. Esia abia be woaɖe ayiku me eye mlɔeba woado ayiku na ame.

Ne èno cysteamine la, ele be nàyi edzi anɔ enom le wò agbe me katã . Numekukuwo ɖee fia be ate ŋu axe mɔ ɖe cystinosis ƒe kuxi geɖe siwo dona megbe siwo medo ƒome kple ayiku o la nu.

Mlɔeba la, nu siwo dzi wòle be woaɖo ŋkui

Cystinosis nye domenyiŋusẽfianu ƒe dɔléle si ate ŋu ahe dzesi vovovowo vɛ. Ne wokpɔ dɔlélea kaba eye wodae kaba la, woate ŋu aɖu dɔlélea ƒe ŋgɔyiyi dzi le akpa gãtɔ me . Tsã la, ewua ɖevi suewo, gake fifia woate ŋu atsɔ atike ada dɔléle sia. Ne wozã atike gɔ̃ hã la, ayiku megawɔa dɔ nyuie o mlɔeba eye wòhiãna be woado ayiku na amesiwo ŋu cystinosis le. Gake fifia amesiwo ŋu dɔlélea le la nɔa agbe nyuie vaseɖe woƒe tsitsime.

Ne dzesi siawo le wò alo ame aɖe si nènya ŋu la, ele vevie ŋutɔ be nàdi atikewɔlawo ƒe aɖaŋuɖoɖo enumake.Mègatsi dzi o, gake enyo be amesiame nanɔ ŋudzɔ ɖe nu siawo tɔgbi ŋu.

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