So wowɔ cystine a ayɛ kɛse wɔ wo nipadua mu nkwammoaa mu? Wɔfrɛ eyi cystinosis!

Fa no sɛ, sɛ amino acid bi a wɔfrɛ no `(cystine)` (cysteine) fi ase boaboa ano wɔ nkwammoaa nketenkete a ɛwɔ yɛn nipadua mu no mu a, dɛn na ɛbɛba? Ɛno ne tebea a wɔfrɛ no `(Cystinosis). Eyi yɛ awosu mu yare a wɔntaa nhu, nanso ɛsɛ sɛ wobu no sɛ ɛho hia paa. Sɛ `(cystine)` boaboa ano dodo wɔ nkwammoaa no mu a, saa nkwammoaa no betumi asɛe. Sɛ yɛbɛka no pɛpɛɛpɛ a, saa `(cystine)` yi ma ahwehwɛ nketewa ba nkwammoaa no mu, na sɛ ɛboaboa ano a, ɛde ɔhaw ba yɛn nipadua mu akwaa ne ntini ahorow so. Momma yɛnka saa `(Cystinosis)` yi ho asɛm kɔ akyiri na ɛnnɛ kɛkɛ, okay?

Dɛn ne Cystinosis? Momma yɛnte ase pɛpɛɛpɛ!

Sɛ yɛbɛka no tiawa a, cystinosis yɛ awosu mu tebea . Nea ɛba wɔ eyi mu ne sɛ amino acid `(cystine)` (cysteine) boaboa ano wɔ yɛn nkwammoaa mu. Wunim, amino acid ho hia yɛn nipadua no yiye. Nanso, sɛ saa `(cystine)` yi wɔ nkwammoaa no mu boro so a, epira nkwammoaa no. Esiane saa `(cystine)` a ɛboro so yi nti , ahwehwɛ nketewa te sɛ nneɛma hyehyɛ wɔ nkwammoaa no mu. Saa ahwehwɛ yi boaboa ano nkakrankakra na efi ase sɛe yɛn nipadua no akwaa ne ntini ahorow.

Cystinosis taa ka asaabo ne aniwa . Nanso, ebetumi asɛe amemene, ntini, mmerɛbo, thyroid, dwensɔtwaa, ne mmarima mu no, awotwaa nso.

Eyi ho yɛ na koraa, a ɛkyerɛ sɛ ɛka nnipa apem biara mu bɛyɛ biako. Nanso, ɛyɛ yare a emu yɛ den yiye, a ɛtra hɔ nkwa nna nyinaa . Nanso, sɛ wohu no ntɛm na wɔsa no yiye a, wobetumi asiw yare no nkɔso ne nea emu yɛ den no so kɛse. Nanso, awiei koraa no, nnipa pii nya asaabo mu yare a ɛba awiei na ehia sɛ wɔde asaabo foforo ma.

So cystinosis ahorow ahorow wɔ hɔ?

Yiw, cystinosis ahorow atitiriw abiɛsa na ɛwɔ hɔ. Wɔkyekyɛ saa ahorow yi mu gyina mfe a yare no ho sɛnkyerɛnne no dii kan da adi (i.e. bere a yare no fii ase) ne sɛnea sɛnkyerɛnne ahorow no mu yɛ den so.

1. Nephropathic cystinosis (nkokoaa su) .

Eyi ne ɔkwan a ɛtaa ba . Nnipa a wɔwɔ cystinosis no mu bɛyɛ 95% na wɔwɔ saa yi. Ɛsan nso ne nea emu yɛ den sen biara . Wɔsan frɛ no nkokoaa cystinosis.

Nkokoaa a wɔwɔ saa `(Nephropathic cystinosis)` yi nya tebea soronko bi a ɛsɛe asaabo no . Wɔfrɛ no `(renal Fanconi syndrome)`. Wɔ saa tebea yi mu no, minerals ne aduannuru afoforo a yɛn nipadua hia no ntumi nkɔ mogya no mu yiye, na mmom ɛkɔ nsu mu. Fa no sɛ, sɛ abofra kumaa nipadua hwere nneɛma a ehia wɔ saa kwan yi so a, .Akokoaa no nyin yɛ mmerɛw, nnompe no yɛ mmerɛw, ebia ɛbɛkotow (wɔsan frɛ eyi ``rickets''), na ɔhaw afoforo pii betumi aba.

Mpɛn pii no, sɛ abofra di mfe abien , cystine crystals fi ase yɛ wɔ n’aniwa anim. Saa ahwehwɛ yi boaboa ano, na bere kɔ so no, aniwa no tumi te hann nka (photophobia). Eyi betumi ama aniwa ayɛ no yaw kɛse na ayɛ mmerɛw . Ɛte sɛ nea aniwa no dan bruu bere a owia hann ba no.

Akyinnye biara nni ho sɛ mmofra a wɔwɔ saa `(Nephropathic cystinosis)` yi hia asaabo foforo. Sɛ wɔansa asaabo no yare a, ebetumi ayɛ nea entumi nyɛ adwuma koraa bere a wɔadi mfe 10. Nanso, sɛ wɔsa mmofra yi yare yiye a, wobetumi atra ase akosi mpanyin afe so a asetra pa.

2. Mfinimfini cystinosis (mmofra a efi ase) .

Wɔsan frɛ eyi sɛ mmabun anaa mmofra cystinosis. Nsɛnkyerɛnne no te sɛ nkokoaa cystinosis de, nanso sɛnkyerɛnne ahorow no da adi wɔ mmofraase anaa mmerantebere ne mmabaabere awiei . Nsɛnkyerɛnne no betumi ayɛ mmerɛw anaasɛ bere kɔ so no, ebetumi ayɛ den kɛse.

Awiei koraa no, nnipa a wɔwɔ cystinosis a ɛte sɛɛ no ​​behia sɛ wɔde asaabo foforo ma. Sɛ wɔansa asaabo no yare a, ebetumi ayɛ nea entumi nyɛ adwuma koraa wɔ mfe 15-25 ntam .

3. Non-nephropathic cystinosis (ade a ɛka aniwa nkutoo) .

Wɔsan frɛ eyi sɛ benign cystinosis, anaa ocular cystinosis. Saa ɔkwan yi ka aniwa nkutoo . Cystine crystals ba wɔ aniwa no anim, na ɛma photophobia ba. Nanso, nnipa dodow no ara a wɔwɔ saa saa no nnya asaabo a asɛe anaasɛ wonni sɛnkyerɛnne afoforo .

Mfe a wɔde hu tebea yi (Non-nephropathic cystinosis) betumi ayɛ soronko, efisɛ sɛnkyerɛnne ahorow no ntaa mma. Nanso, ɛtaa ka mpanyimfo a wɔadi mfe mfinimfini.

Hena na onya cystinosis?

Cystinosis yɛ awosu mu yare a ebetumi aka obiara . Wonya yare no fi awo mu wɔ autosomal recessive nhyehyɛe mu. Eyi kyerɛ sɛ ɛsɛ sɛ awofo baanu no nyinaa kura awosu mu nkwaadɔm a wɔasakra no ma yare no . Sɛ awofo baanu no nyinaa yɛ awosu mu abɔde a wɔayɛ no foforo no kurafo (a ɛkyerɛ sɛ wonni sɛnkyerɛnne biara, nanso wɔwɔ awosu mu abɔde no) a, wɔwɔ hokwan 25% (baanan biara mu biako) sɛ wɔbɛwo abofra a ɔwɔ cystinosis.

Saa yare yi abu so dɛn?

Cystinosis yɛ yare a ɛntaa nsi koraa . Wɔ wiase nyinaa no, ɛka mmofra 100,000 kosi 200,000 biara mu biako pɛ.

Ɔkwan bɛn so na cystinosis ka yɛn nipadua?

Cystinosis yɛ yareɛ a ɛka nyarewa kuo a wɔfrɛ no `(lysosomal storage disorder)` ho. Fa no sɛ, wɔ yɛn nkwammoaa mu no, akwaa nketenkete a wɔfrɛ no `(lysosomes)` wɔ hɔ . Eyinom te sɛ afiase dan no mu nwura kotoku. Wɔpaapae aduannuru te sɛ carbohydrates, protein, ne srade mu. Protein ahorow bi yɛ adwuma sɛ `(enzymes)` na ɛboa nipadua no ma ɛtwetwe saa aduannuru yi. Protein afoforo bi yɛ adwuma sɛ `(transporters)`. Ɛne sɛ, saa akwantufo yi fa `(cystine)` a aka a efi saa nneɛma a abubu no mu no fi lysosomes no mu.

Afei, sɛ wohwere saa transport proteins no mu biako a, `(cystine)` ntumi mfi lysosomes no mu na efi ase boaboa ano wɔ nkwammoaa no mu. Ɛno ne bere a `(cystine)` yɛ akuwakuw, a ɛsɛe akwaa ahorow no.

Dɛn ne cystinosis ho sɛnkyerɛnne ahorow?

Ɛsono sɛnea yare no ho sɛnkyerɛnne ne sɛnea emu yɛ den no gyina mfe a yare no fi ase ne bere a wohu so.

Mpɛn pii no, nephropathic cystinosis (nkokoaa de) ho sɛnkyerɛnne fi ase da adi wɔ asram 6 kosi 18 ntam , bere a asaabo no asɛe no. Eyinom ne sɛnkyerɛnne atitiriw no:

• Sukɔm a ɛboro so (polydipsia).
• Nsu a wɔtow boro so (polyuria).
• Electrolyte a ɛnkari pɛ wɔ nipadua no mu.
• Ɔfe a wɔfe.
• Nsu a ɛho ntew.
• Huraeɛ.

Nsɛnkyerɛnne afoforo betumi ayɛ:

• Nnompe a ɛyɛ mmerɛw, rickets.
• Nkɔso a entumi nyɛ yiye.
• Aniwa no ani a ɛyɛ kurukuruwa anaasɛ ɛyɛ mununkum.
• Hann ho nkate (photophobia).
• Anisoadehu a ɛyɛ mmerɛw.
• Ɛyɛ den sɛ ɔbɛmene (dysphagia).

Nsɛnkyerɛnne a ɛwɔ mfinimfini cystinosis (mmofra mu) no te sɛ nea ɛwɔ nkokoaa mu no. Nanso, wofi ase pue wɔ mmofraberem awiei anaa mmerantebere ne mmabaabere mu. Afei nso, ebia sɛnkyerɛnne ahorow no mu nyɛ den pii. Nsɛnkyerɛnne afoforo a wobetumi ahu wɔ saa kratasin yi so ne:

• Ɔbrɛ, ɔbrɛ.
• Ntini mu mmerɛwyɛ .
• Ntini mu yare `(myopathy)` (myopathy).
• Ɔyɛ tiaa.
• Mmabunbere a ɛkyɛ.
• Awo a wontumi nwo.

Aniwa mu cystinosis (non-nephropathic cystinosis) ka aniwa no ani a ɛyɛ mmerɛw nkutoo. Mpɛn pii no sɛ mfonini ho suro nkutoo ne sɛnkyerɛnne . Nsɛnkyerɛnne biara nni hɔ a ɛfa asaabo ho.

Dɛn ne nneɛma a ɛde cystinosis ba?

Eyi fi awosu mu nsakrae a ɛba awosu mu nkwaadɔm a wɔfrɛ no CTNS no mu.. Saa `(CTNS)` gene yi kyerɛ yɛn nipadua sɛ yɛnyɛ protein bi a wɔfrɛ no `(cystinosin)`. `(Cystinosin)` ne protein a ɛde nneɛma kɔ baabiara a yɛadi kan aka ho asɛm. Ɛne sɛ, ne dwumadie ne sɛ ɛbɛyi amino acid `(cystine)` afiri lysosomes no mu.

Enti, sɛ nkwaadɔm mu nsakrae bi ba `(CTNS)` awosu mu abɔde mu a, sintɔ bi ba `(cystinosin)` protein no mu. Afei, `(cystine)` ntumi mfi lysosomes no mu na efi ase boaboa ano. Ɛno ne bere a cysts no hyehyɛ na ɛsɛe nkwammoaa a ɛwɔ akwaa no mu no.

Wɔaka bere tenten sɛ eyi fi awo mu wɔ ``autosomal recessive pattern'' mu. Eyi kyerɛ sɛ ɛsɛ sɛ awofo baanu no nyinaa yɛ awosu mu abɔde a wɔayɛ no foforo yi kurafo (wonni yare no ho sɛnkyerɛnne biara) . Sɛ awofo baanu no nyinaa nya saa awosu mu nkwaadɔm a wɔasakra no yi nkutoo a, na abofra no benya saa yare yi.

Ɔkwan bɛn so na wohu sɛ obi anya Cystinosis?

Wo duruyɛfo bebisa wo wo yare no ho sɛnkyerɛnne ne w’abusua aduruyɛ ho abakɔsɛm. Afei ɔbɛyɛ nipadua mu nhwehwɛmu na wahyɛ sɛ wɔnyɛ nhwehwɛmu pii mfa nhu tebea no.

Sɔhwɛ ahorow bɛn na wɔreyɛ ama eyi?

Oduruyɛfo no betumi ayɛ nhwehwɛmu ahorow yi:

• Mogya mu nhwehwɛmu: Wɔfa wo mogya bi na wɔhwɛ sɛnea cystine dodow a ɛwɔ mogya mu nkwammoaa fitaa no mu no te.
• Awosu mu nhwehwɛmu: Awosu ho ɔbenfo bɛhwɛ sɛ nsakrae bi aba wo CTNS awosu mu nkwaadɔm mu anaa.
• Nsuo mu nhwehwɛmu: Wɔfa nsuo bi na wɔhwɛ sɛ ɛwɔ mineral, aduanenuru, nkyene, ne amino acid a ɛboro so anaa.
• Aniwa mu nhwehwɛmu: Aniwa ho oduruyɛfo de afiri soronko bi a wɔde hwɛ nneɛma nketenkete (kanea a wɔapaapae mu) bedi dwuma de ahwehwɛ cystine crystals wɔ w’aniwa mu.

Sɛ wonyinsɛn na obi a ɔwɔ w’abusua mu wɔ cystinosis, na wohu sɛ wo ne wo hokafo nyinaa yɛ wɔn a wɔde yare no kɔ a, wobetumi ayɛ nhwehwɛmu ansa na wɔawo, te sɛ amniocentesis, de ahu sɛ ebia wo ba no wɔ yare no anaa . Nea ɛka eyi ho ne sɛ wobegye nkwammoaa bi afi awotwaa mu nsu a atwa akokoaa no ho ahyia no mu na wɔahwɛ sɛ cystine dodow wɔ mu anaa.

Wobetumi nso de sɔhwɛ foforo a wɔfrɛ no ``chorionic villus sampling`` adi dwuma. Eyi sɔ nkwammoaa a ɛwɔ awotwaa no mu hwɛ.

Dɛn ne ayaresa ahorow a wɔde sa cystinosis?

Aduru a wɔfrɛ no Cysteamine no

Aduru titiriw a wɔde sa cystinosis ne aduru bi a wɔfrɛ no cysteamine . Eyi yɛ ade a ɛma cystine so tew. Eyi kyerɛ sɛ ɛtew cystine dodow a ɛwɔ wo nkwammoaa mu no so.

Sɛ wofi ase saa aduru `(cysteamine)` yi ntɛm a, wobetumi adi asaabo a ɛsɛe no so kɛse na wɔakyɛ.. Saa aduru yi aboa ma wɔakyɛ hia a ehia sɛ wɔde asaabo foforo ma no. Mmofra binom atumi atwe asaabo a wɔde ma wɔn no akyɛ akosi mpanyin afe so. Afei nso, saa aduru yi ma mmofra a wɔwɔ yare no nyin yiye.

`(Cysteamine)` ahodoɔ mmienu na ɛwɔ hɔ: `(CystagonTM)` ne `(ProcysbiTM)` (eyinom yɛ brand din). Ɛsɛ sɛ wɔnom `(CystagonTM)` nnɔnhwerew asia biara. `(ProcysbiTM)` (ma wɔn a wɔadi boro mfe 6) wɔ ade titiriw bi a wɔde kata so, enti wobetumi anom nnɔnhwerew 12 biara.

Aduru a wɔtaa de di dwuma `(cysteamine)` no nsa `(cystine)` ahwehwɛ a ɛwɔ aniwa no anim no yare. Eyi nti, `(cysteamine)` aniwa mu aduru ahorow abien na ɛwɔ hɔ a U.S. Aduan ne Nnuru Dwumadibea `(FDA) apene so: `(CystaranTM)` ne `(CystadropsTM)`. Ɛsɛ sɛ wode saa nsu a ɛtɔ gu fam yi gu so bɛyɛ pɛnkoro dɔnhwerew biara bere a woada no. Wɔma ahwehwɛ a ɛwɔ ani no mu no tew na ɛtew hann ho nkate so.

Ayaresa afoforo

Ebia mmofra a wɔwɔ cystinosis no behia ayaresa afoforo, a egyina wɔn sɛnkyerɛnne ahorow so. Fanconi yare no ayaresa bi ne:

• Nom nsu ne electrolytes pii (na nsu a ɛyera dodo mfi nipadua no mu).
• Aduru a wɔde ma nipadua no nkyene kari pɛ.
• Aduru a wɔde siesie sintɔ a ɛwɔ phosphate a asaabo no twetwe mu no.

Ayaresa afoforo a wɔde sa cystinosis ne:

• Onyin hormone ayaresa.
• Sɛ wowɔ asikreyare a egyina insulin so a, wuhia insulin.
• Wɔde testosterone di dwuma ma mmarima a wɔwɔ hypogonadism, tebea a ɛma mmadwoa no nyɛ adwuma yiye.
• Ɔkasa ne kasa mu ayaresa.
• Awosu mu afotu a wɔde ma.

Ebia ɛho behia sɛ wɔde afiri (gastronomy tube) ma mmofra binom a ɛyɛ den ma wɔn sɛ wobedi aduan. Wɔde saa afiri yi ma aduannuru a ɛfata na wɔde nnuru ma.

Wobetumi de akwan a edidi so yi nso asa aniwa mu cystinosis a ɛka aniwa nkutoo:

• Kwati hann a ɛhyerɛn.
• Ɔhyɛ ahwehwɛ a wɔde hwɛ owia.
• Aniwa a wɔbɛma ayɛ nwini.
• Ɛntaa mma koraa sɛ ebia ɛho behia sɛ wɔde ani a ɛyɛ mmerɛw ma obi foforo.

Asaabo a wɔde ma obi foforo

Sɛ wohu ntɛm na wɔsa wɔn yare mpo a, awiei koraa no, nnipa a wɔwɔ nephropathic ne intermediate cystinosis no nya asaabo a entumi nyɛ adwuma yiye. Mfiase no, ebia wo duruyɛfo de dialysis asa asaabo a entumi nyɛ adwuma yiye. Dialysis yɛ afiri a egye adwuma a w’asaabo yɛ no bi. Ɛyi nneɛma a wɔsɛe no fi wo mogya mu na ɛboa ma nnuru bi a ɛwɔ wo nipadua mu no kɔ so yɛ nea ɛfata. Nanso, asaabo a entumi nyɛ adwuma yiye no yɛ nea wontumi nsakra, na awiei koraa no, ɛho hia sɛ wɔde asaabo foforo ma .

Asaabo a wɔde si ananmu no di yiye kɛse ma nnipa a wɔwɔ cystinosis. Asaabo a wɔde ama no nboaboa cystine ano . Nanso, cystine da so ara tumi boaboa ano wɔ wo nipadua no akwaa afoforo mu. Enti, ɛsɛ sɛ wonom nnuru wo nkwa nna nyinaa .

So ayaresa no mu nsunsuanso bɔne bi wɔ hɔ?

Aduru `(cysteamine)` no hua yɛ bɔne kakra na ɛyɛ dɛ a ɛnyɛ dɛ . Enti, nnipa binom betumi anya akisikuru, ɔfe, ne komayare bere a wɔnom aduru yi. `(cysteamine)` nso betumi ama yafunu mu acid a ɛboro so aba. Nnipa binom nom nnuru te sɛ `(proton pump inhibitors)` de tew yafunu mu acid so. Eyi betumi atew wɔn yafunu mu yare no so. `(cysteamine)` nso tumi de ahome bɔne `(halitosis)` ne ahome bɔne aba.

So wobetumi asiw Cystinosis ano?

Cystinosis yɛ awosu mu tebea, enti wontumi nsiw ano . Sɛ woanyinsɛn anaa woreyɛ nhyehyɛe anyinsɛn a, ebia wobɛpɛ sɛ wususuw ho sɛ wobɛyɛ awosu mu nhwehwɛmu de ahu sɛ ebia wo ba no betumi anya yare no anaa.

Dɛn ne obi a ɔwɔ cystinosis no anidaso? / Bere tenten ahe na wobetumi atra ase?

Bere bi, na nephropathic cystinosis yɛ yare a ekunkum mmofra nkumaa. Nanso ɛnnɛ, esiane sɛ wɔayɛ aduru a wɔfrɛ no cysteamine na wɔanya nkɔso wɔ asaabo a wɔde si ananmu nti, wɔatrɛw nnipa a wɔwɔ cystinosis nkwa nna mu akodu mpanyin afe so . Nnipa binom tra ase boro mfe 50.

Sɛ wohu cystinosis ntɛm a, ɛho hia. Sɛ wɔsa yare no yiye a, wobetumi asiw yare no ano. Sɛ wɔansa mmofra a wɔwɔ cystinosis no yare a, wɔn asaabo bɛyɛ adwuma yiye bere a wɔadi mfe 10. Sɛ wɔsa wɔn yare mpo a, mmofra pii asaabo bɛyɛ adwuma yiye wɔ wɔn mmofraase anaa mmerantebere ne mmabaabere awiei. Eyi bɛhwehwɛ sɛ wɔyɛ dialysis na awiei koraa no wɔde asaabo foforo ma.

Sɛ wonom cysteamine a, ɛsɛ sɛ wokɔ so nom nkwa nna nyinaa . Nhwehwɛmu ada no adi sɛ ebetumi asiw cystinosis ho haw ahorow pii a ɛba akyiri yi a ɛne asaabo nni abusuabɔ no ano.

Nea etwa to no, nneɛma a ɛsɛ sɛ yɛkae

Cystinosis yɛ awosu mu yare a ebetumi de sɛnkyerɛnne ahorow aba. Sɛ wohu ntɛm na wɔsa no ntɛm a, wobetumi asiw sɛnea yare no kɔ so no so kɛse . Bere bi a na ekunkum mmofra nkumaa, na afei wobetumi de nnuru asa yare yi. Sɛ wɔnom nnuru mpo a, awiei koraa no, nnipa a wɔwɔ cystinosis no asaabo ntumi nyɛ adwuma yiye na ɛsɛ sɛ wɔde asaabo foforo ma. Nanso, mprempren nnipa a wɔwɔ yare no te ase yiye kosi wɔn mpanyin afe so.

Sɛ wo anaa obi a wunim no wɔ saa sɛnkyerɛnne ahorow yi a, ɛho hia yiye sɛ wohwehwɛ aduruyɛfo afotu ntɛm ara.Mma ɛnhaw wo, nanso eye sɛ obiara behu nneɛma a ɛte sɛɛ.

` cystinosis, cystine, asaabo mu yare, awosu mu yare, Fanconi syndrome, cysteamine, asaabo mu yare, awosu mu yare, mmofra akwahosan