Kukanganisa kusagadzikana kune zvinorwadza uye anhydrosis (CIPA) chirwere chisingawanzofa chinokonzera vanhu vakaremara kuti vasakwanisa kunzwa kurwadziwa uye vasingakwanisi kutuka (anhydrosis). Inonziwo inhaka yehutano uye yezvokudzivirira kweuropathy type IV (HSAN IV).
Iri zita rinotsanangurwa chaizvo nokuti rinotsanangura maitiro anokosha ehutachiona.
Mamiriro acho akafa, zvinoreva kuti inotanga mumhuri. Sensory neuropathy inoreva kuti iyo chirwere cheshuga chinonyanya kukanganisa mishonga inodzora kunzwa. Zvinokonzerwa nemishonga ndeyemitsipa inodzora kuponesa mabasa emuviri. CIPA, kana HSAN IV, inonyanya kukanganisa mishonga inogadzirisa iyo inodzora kutuka.
Zviratidzo zveCIPA
Chirwere cheCIPA chiripo pakuberekwa uye chinoita kuti vanhu vasakwanisa kunzwa kurwadziwa kana kutonhora uye vasingakwanisi kutuka. Zviratidzo zvinoonekwa panguva yehuduku uye chirwere chacho chinowanzoongororwa munguva yehuduku.
Kusava Nemarwadzo: Vanhu vazhinji vane CIPA havafungi nezvekushaiwa kwekutambudzika kana kuti kusava nekutuka. Pane kudaro, vana vane CIPA vanotanga kukuvara kana kupisa pasina kuchema, kunyunyuta kana kunyange kuona. Vabereki vanogona kuona kuti mwana ane CIPA anongova munyoro munyoro, panzvimbo yekucherechedza dambudziko. Pashure penguva, vabereki vangatanga kushamisika kuti sei mwana wacho asingabvumiri pakurwadziwa, uye chiremba wechidiki angangoita mamwe maedzo ekuongorora zvirwere zvepfungwa.
Vana vane CIPA vanogara vachikuvadzwa kakawanda kana kupiswa nokuti havanzvidzi basa rinorwadza. Uye, vanogona kunyange kutora maronda ane hutachiona nokuti haasi kuchengetedza maronda avo kubva mukurwadziwa. Dzimwe nguva, vana vane CIPA vanoda kuongororwa nemishonga nokuda kwekukuvara kwakanyanya.
Apo boka rezvehutano rinotarisa unhu hwakadzikama husingawanzoperi mukutarisana nemarwadzo, izvi zvinogona kukurudzira kuongororwa kwehutano hwepfungwa.
Anhydrosis (Kusina Kupika): Hydrosis zvinoreva kutuka. Anhydrosis zvinoreva kusava nekutuka. Kazhinji, kutuka pamusoro peganda kunobatsira kupora mumuviri patinotonhora zvikuru kubva pakurovedza muviri kana kubva pane fever high. Vana (uye vanhu vakuru) vane CIPA vanotambura nemigumisiro ye anhydrosis, yakadai sepamusoro-soro yemafuta, nokuti havakwanisi kudzivirira 'kuchengetedzwa kwekukudzwa kunogona kupa.
Kuziva
Izvo hazvisi nyore kuongorora X-ray kana kuongorora ropa kunogona kuona CIPA. Vamwe vanhu vane CIPA vane mitsipa isingagadziriswi uye zvisina kumira kwezvinyama zvekutsvaira.
Icho chinonyanya kujekesa kuongororwa kweCIPA inonzi genetic test , iyo inogona kuitwa musati yaberekwa kana muhuduku kana kuti munhu mukuru. Iko kune chizivikanwe chemafuro chinoratidzira CIPA, uye chinonzi munhu TRKA (NTRKI) gene iri pane chromosome 1 (1q21-q22). A genetic DNA test ingaratidza kusanzwisisika kweiyo geni, zvichiratidza kuonekwa kweCIPA.
Zvinonyanya Kukonzera
CIPA chirwere chine nhaka. Icho chiri chekuzvidzivirira , izvo zvinoreva kuti chero munhu ane CIPA anofanira kutora nhaka yegene kubva kuvabereki vose.
Kazhinji, vabereki vemwana akabatwa vanotakura geni, asi havana chirwere kana vakangotora nhaka yegene kubva kumubereki mumwe.
Ijeri risingaitiki rinokonzerwa neCIPA, munhu TRKA (NTRK1), ndiro gira rinotungamirira muviri kuti uve nehutano hwakakura. Inonyatsokurudzira kukura kwehutano kuburikidza nekukodhidza muto unonzi tyrosine kinase (RTK,), iyo inopophosphorylated mukurwisa nerve yekukura factor (NGF).
Apo iyo geni haina kukwana, sezvo iri pakati peavo vane CIPA, manzwiro ekunzwa uye mamwe mishonga yezvokudzivirira haatombogadziri zvakakwana, uye nokudaro nharo dzekunzwa hazvigone kushanda zvakanaka kuona zviratidzo zvekutambudzika nekupisa uye muviri haugoni kubereka kutuka.
Kurapa kweCIPA
Panguva yazvino, hapana hutano huripo hunogona kuporesa zvirwere zveCIPA kana kutsiva kushungurudzika kusina kurwadziwa kana basa rekutuka.
Vana vane chirwere vanofanira kudzidza kuedza kudzivirira kukuvadzwa uye kuongorora kukuvadzwa zvakanyatsonaka kuitira kuti vasapinda mitezo. Vabereki nevamwewo vanhu vakuru vanotarisira vana vane CIPA vanofanirawo kuramba vakangwarira, sezvo vana vemuzvarirwo vangave vachida kuedza zvinhu zvitsva vasina kunzwisisa zvakakwana kukosha kwekukuvara kwepanyama.
Zvatinotarisira
Kana iwe kana munhu waunoda akawana chirwere cheCIPA, unogona kuva noupenyu hwakanaka uye hunobatsira nehutano hwakanaka uye mararamiro ehupenyu. Kuziva kuti iyo chirwere chemajeni chinhu chinonyanya kukoshesa pazvinouya pakuronga mhuri.
CIPA chirwere chisina kujairika, uye kazhinji, kutsvaga mapoka ekutsigira zvinetso zvehutano zvakasiyana-siyana zvinogona kubatsira mukutsvaga rubatsiro rwevanhu uye kudzidza nezvemazano anobatsira ekubatsira kurarama neCIPA zviri nyore.
> Sources:
> A Comprehensive Functional Analysis ye NTRK1 Missense Mutations Inoita Hereditary Sensory uye Autonomic Neuropathy Type IV (HSAN IV), Shaikh SS, Chen YC, Halsall SA, Nahorski MS, Omoto K, Young GT, Phelan A, Woods CG, Hum Mutat. 2017 Jan; 38 (1): 55-63
> Kuchinja-chinja muTrA Kubvisa Kukonzera Kusuruvara Kwemarwadzo neAnhidrosis (CIPA) Kuputika Kwemafuro, Kubatana, uye Kushanduka Kwemutambo-Neurodegeneration neHakuvhiringidzika kweMagetsi Evanhu. Franco ML, Melero C, Sarasola E, Acebo P, Luque A, Calatayud-Baselga I, García-Barcina M, Vilar M, J Biol Chem. 2016 Oct 7; 291 (41