Chirwere cheNiemann-Pick hachiwanzorevi genetic chiremba chimiro. Kune zvikamu zvina zvechirwere ichi, zvakarongerwa sorudzi rweA, rudzi rweB, rudzi C, uye chirwere D. Chinonzi Niemann-Pick chinokonzera matambudziko akasiyana-siyana emishonga, uye inowanzofambira mberi nokukurumidza. Zviratidzo nemigumisiro yezvose zvakasiyana-siyana zveNiemann-Pick zvirwere zvinokonzerwa nekuvakwa kwe sphingomyelin, rudzi rwemafuta, mumuviri.
Zvinosuruvarisa, hakuna chirwere chinogadzirisa chirwere cheNiemann-Pick, uye vanhu vane chirwere ichi vane chirwere chikuru uye rufu pazera remakore. Kana iwe kana mwana wako akawana chirwere cheNiemann-Pick, unogona kubatsirwa nokuziva zvakawanda pamusoro pemamiriro acho ezvinhu.
Zvinokonzera
Chinokonzera chirwere cheNiemann-Pick hachina kuoma. Vanhu vane chirwere ichi vanowana nhaka yezvipembenene zvizhinji zvepabonde, zvichiita kuti muve nehuputi hwephingomyelin, rudzi rwemafuta. Sezvo sphingomyelin inowedzera mumasero emuropa, spleen, mapfupa, kana nervous system, idzi nzvimbo dzomuviri haigone kuita sezvazviri, zvichiita kuti chero zviratidzo zvinoratidza chirwere ichi.
Aina
Mhando dzakasiyana dzezvirwere zveNiemann-Pick dzakasiyana kubva kune imwe neimwe nenzira dzakasiyana.
- Zvinokonzerwa nehutachiona hwakasiyana-siyana.
- Izvo zvose zvinoratidzwa nenzira dzakasiyana-siyana dzehupenyu hunoita kuti sphingomyelin ivakwe.
- Iyo sphingomyelin yakawandisa inokanganisa zvikamu zvakasiyana zvemuviri.
- Mumwe nomumwe anotanga panguva dzakasiyana.
- Mhedzisiro yemhando imwe neimwe haina kufanana.
Izvo zvose zvavari pamwe chete ndezvokuti zvose zvinokonzerwa nehutachiona hunokonzerwa nekuputika zvinokonzera sphingomyelin.
Niemann-Pick Mhando A
Tanga A inotanga kubudisa zviratidzo munguva yecheche uye inonzi inonzi yakanyanya kusimba zvikuru yeNeemann-Pick chirwere.
Icho ndechimwe chezvimwe zvinoshandiswa zvinosanganisira hurongwa hwemagetsi .
- Zviratidzo: Zviratidzo zvinotanga kumakore ekuberekwa kwemwedzi mitanhatu uye zvinosanganisira: kukurumidza kukura mumuviri, kusimba musimba uye kusimba kwemazwi, kunetseka kudya, kufema kunetseka uye kunonoka kana kunonoka kukura kwehutano hwekunzwisisa sekugara uye kutaura. Kazhinji, vacheche naNiemann-Pick-type A vanokura zvakanaka kana kuti vanowanzogara mumwedzi shomanana yehupenyu uye vanotanga kuva nezviratidzo.
- Kuongororwa: Kana mwana wako asina kunge achikura zvakanaka, zvinogona kuva nezvikonzero zvinokonzera. Vana vazhinji vane Niemann-Pick Rudzi rweA vane chirwere chakakura uye chiropa chakakura, yakakwirira cholesterol mazinga, uye cherry inoratidzika ruvara inowanikwa pakuongorora kweziso. Izvi zviratidzo hazvisimbidzi kuongorora, zvisinei. Kana chiremba wako achifunga kuti Niemann-Pick aina A ndiyo iyo inokonzera zviratidzo zvemwana wako, pane zviitiko zvishomanana zvinosimbisa chirwere. Acid Sphingomyelinase inotarisirwa kuti iwedzere, uye ichi chiyero chinogona kuyerwa mumasero machena eropa. Pano panewo mazamu emuviri anokwanisa kuziva kuti geni rinowanikwa sei.
- Kurapa: Kana mwana wako akaonekwa kuti ane Niemann-Pick, aina A, hapana mishonga kunze kwekutsigirwa uye kunyaradzwa. Zvinosuruvarisa, vana vane chirwere ichi havatarisirwi kurarama kupfuura makore 3 kana 4.
- Chikonzero: Niemann-Pick aina A inokonzerwa nekusagadzikana kweropa rinonzi SMPD1 gene. Iyi geni inoshandiswa pakugadzira sphingomyelinase, enzyme inoputsa sphingomyelin, mafuta anowanzo ari mukati memasero emuviri. Apo sphingomyelin haigoni kuputsika sezvinofanira, masero ari mumuviri anoiunganidza, uye kuvapo kweiyo mafuta akawanda kunodzivirira nhengo kuti dzisaita zvakanaka.
- Genetics: Ichi chirwere chekuzvidzivirira, izvo zvinoreva kuti mwana anofanira kunge akawana geni kubva kuvabereki vose kuitira kuti chirwere chibude. Vanhu veAshikenazi madzinza echiJudha vane mukana mukuru wekuwana nhaka iyi.
Niemann-Pick Type B
Rudzi rweB rinofungidzirwa kuti rune simba rakawanda reNiemann-Pick chirwere kupfuura rudzi A. Rwakakonzerwa nehutano hwakafanana hwemajini, izvo zvinoguma nekushayikwa kwephingomyelinase. Kusiyana kukuru pakati pemhando A uye rudzi rweB ndiko kuti vanhu vane chirongwa B vanokwanisa kubudisa zvakanyanya kuwedzera sphingomyelinase kupfuura vanhu vane rudzi A. Iyi kusiyana kunobatsira kusanyanya sphingomyelin kuvaka, izvo zvingave zvisingatauri zvishoma nezvezera rakakura pa iyo inonzi B chirwere chinotanga, zvibereko zviri nani, uye kupona kwenguva refu. Haritauri zvakakwana kuti nei chikwata A, nepo kushanda kwepfungwa kunowanzoitwa muchechi B.
- Zviratidzo : Zviratidzo zvinotanga pave munhu mukuru uye zvinogona kusanganisira chiropa chikuru, chirwere chikuru, zvinetso zvekufema, nekubuda ropa. Vakwegura vakuru vanowanzova nemigumisiro iri nani uye kupona kwenguva refu kupfuura vaduku vaduku vane chirwere chinosiyana.
- Kuongororwa : Sezvo nerudzi rweA, Acid Sphingomyelinase yakaderera mumasero machena eropa, uye chimiro chekuberekwa kwe SMPD1 chinogona kusimbisa chirwere. Ropa rekutsvaira necarglycerides rinogona kukwidziridzwa. Vamwe vanhu vane Niemann-Pick Rudzi B vanogona kunge vane ruzivo rwakatsvukuruka pakuongorora kweziso.
- Kurapa : Kune mishonga yakasiyana-siyana yeNiemann-Pick yaB, asi haiporese chirwere. Izvi zvinosanganisira ropa neropa replatelet uye rubatsiro rwekupema. Kushandiswa kwemuviri kunogona kubatsira kwenguva yakareba kupona uye kuderedza migumisiro yechirwere, asiwo haisi mushonga.
- Chikonzero : Niemann-Pick Rudzi rweB rinokonzerwa nechirema mu SMPD1 gene, izvo zvinoita kuti kuderedzwa kweAidid Sphingomyelinase, kunokonzera kuti sphingomyelin ivakwe mumasero, izvo zvinopesana nebasa rezvikamu zvakasiyana mumuviri.
- Genetics : Zvose zvezvirwere zveNiemann-Pick ndezvokuita zvekuzvidzivirira, kusanganisira rudzi B. Vamwe vanhu vanowanzova nhaka yeNiemann-Pick yeB B, kusanganisira yeAshkenazi vaJudha dzinobva kune dzimwe nyika kana kuti ivo vanobva kune dzimwe nzvimbo muNorth Africa.
Niemann-Pick Mhando C
Niemann-Pick Rudzi C ndiyo yakasiyana-siyana yakawanda yechirwere ichi, asi ichiri chisingashamisi, uye vanenge 500 vanenge vachangobva kuongororwa vanhu gore rose pasi rose.
- Zviratidzo : Zviratidzo zveNiemann-Pick-type C inogona kutanga chero ipi zvayo, asi kazhinji inotanga muhuduku. Zviratidzo zvinosanganisira kudzidzira kunonoka, kushaya simba kweutema nekuderedza kubatana. Zvinetso izvi zvinotanga mushure mehutano hwave huchiri kuve huchivandudzika kazhinji kwemakore mashomanana. Vana vane Niemann-Pick Rudzi C vanogonawo kurasika kukwanisa kutarisa kumusoro uye pasi nemaziso avo uye vanogona kuwedzera ruvara rweganda rinopenya. Dambudziko kutaura uye kufamba kunogona kukura, pamwe chete nekushungurudza. Kushungurudzika uye kuputika kwemisungo, pamwe nekurasikirwa kamwe kamwe kwemazwi emusana mukupindura kune zvakasimba manzwiro zvose zvinokonzerwa nekubatanidzwa kweuropi.
- Kuongororwa : Vana nevakuru vane Niemann-Pick aina C vanogona kuva nechiropa chakawedzerwa, uye kuwedzera kwepleen, uye mapapu zvirwere. Kuongororwa kwaNiemann-Pick-type C kunowanikwa mumakiriniki uye kuongorora kwepanyama, uyewo kuedzwa kunonzi filipin staining test, iyo inogona kuona cholesterol mumasero eganda. Chiyero chekuberekwa chinogona kuziva zviremara mujeri reNPC1 neNPC2.
- Kurapa : Hapana mushonga weNiemann-Pick-type C. Kurapa kunotungamirirwa kurambidza zviratidzo, kupa chirwere chekurwadziwa, nekuwedzera nyaradzo.
- Chikonzero : Neimann-Pick Rudzi C rwakasiyana zvakasiyana nemarudzi A uye B. Kune urombo hwepuroteni dzinobatanidzwa nekuendeswa nekugadzirwa kwe sphingomeylin. Izvi zvinokonzera kupereta kunokonzera kuwedzera kwe sphingomyelin, iyo inozovakwa muzvikamu zvakawanda zvemuviri, zvichikonzera zviratidzo.
- Genetics : Chiremera cheNPC1 kana kuti NPC2 gene chinokonzera kuperesika kweprotini inoenderana neNiemann-Pick-type C. Sezvimwe nemamwe marudzi ehutano hweNiemann-Pick, ichi chirwere chinokonzera kuporesa chinoreva kuti mwana kana munhu mukuru ane chirwere chinofanirwa kugara nhaka mazamu kubva kune vabereki vose (avo vangave vasina chirwere pachavo).
Niemann-Pick Mhando D
Izvi zvakasiyana-siyana dzimwe nguva zvinofungidzirwa sechirwere chakafanana sechimiro C. Chakanga chave chichizivikanwa muvanhu vashoma muNova Scotia, uye chaifungidzirwa kuva chakasiyana-siyana chechirwere cheNiemann-Pick, asi kubvira ipapo, boka iri rakawanikwa rine iyo yezvirwere zvirwere uye genetics yaNiemann-Pick aina C.
Kutsvakurudza
Kune hutsva hunotsvakurudza kune nzira dzekurapa kweNiemann-Pick chirwere. Kushandurwa kwemhepo yakakosha yakagadziridzwa. Panguva yazvino, rudzi urwu rwehutano hunowanikwa nekunyoresa muchipatara chekuedza. Iwe unogona kuwana ruzivo pamusoro pokuti ungaita sei mumakiriniki ekutsvaga nekukumbira chiremba wako kana nekusangana neNiemann-Pick kukurudzira nemasangano ekutsigira.
Shoko Rinobva
Chirwere cheNiemann-Pick chinokonzera huwandu hwezviratidzo zvinopesana nekuva noupenyu huri hupenyu, uye zvinokonzera kusuruvara kukuru, kurwadziwa nekuremara. Inonyanya kunetseka kumhuri yose kana chirwere chakakomba chakadaro chinova chikamu chehupenyu hwako.
Kana iwe kana mwana wako wakarwara nechirwere cheNiemann-Pick, kutambudzika kwoupenyu hwose kunoreva kuti mhuri yako inofanira kuwana tsatsiro yakasimba, pamwe nevezvakasiyana-siyana zvevashandi kupa hutano hwakasiyana-siyana. Nemhaka yokuti chirwere chisingawanzoitiki, iwe unogona kutsvaga kutsvaga vadzidzisi vane ruzivo mukupa hutano hwaunoda.
> Kwakabva:
> Schuchman EH, Desnick RJ. Aina A uye B Niemann-Pick chirwere. Mol Genet Metab. 2017; 120 (1-2): 27-33.