Ukungahloniphi kakhudlwana ebuhlungu kanye ne-anhydrosis (i-CIPA) isifo esiyinqaba esingavamile esenza abantu abathintekile ukuba bangakwazi ukuzwa ubuhlungu futhi abakwazi ukuthuthumela (i-anhydrosis). Kubizwa nangokuthi i-hereditary sensory ne-autonomic neuropathy uhlobo IV (HSAN IV).
Leligama lichaza kakhulu ngoba lichaza izici ezimbalwa ezibalulekile zesifo.
Lesi simo siwufa, okusho ukuthi kugijima emindenini. I- neuropathy ebonakalayo isho ukuthi yisifo sezinzwa esithinta ngqo izinzwa ezilawula ukuzwa. Imizwa ye-autonomic yizinzwa ezilawula imisebenzi yokuphila yomzimba. I-CIPA, noma i-HSAN IV, iyithinta ngqo imivimbo yokuzimela elawula ukujuluka.
Izimpawu ze-CIPA
Isifo se-CIPA sikhona lapho sizalwa futhi senza abantu bangakwazi ukuzwa ubuhlungu noma ukushisa futhi abakwazi ukuthuthumela. Izimpawu zibonakaliswa ngesikhathi seyingane kanti lesi sifo sivame ukutholakala lapho sisencane.
Ukuntula Ubuhlungu: Iningi labantu abaneCIPA abakhalazi 'ukungabi nobuhlungu' noma 'ukungabi nokuthuthumela.' Esikhundleni salokho, izingane ezine-CIPA ziqala ukulimala noma ukushiswa ngaphandle kokukhala, ukukhononda noma ngisho nokuqaphela. Abazali bangabona ukuthi ingane eneCIPA ingumntwana onomusa, kunokubona inkinga. Ngemva kwesikhashana, abazali bangase baqale ukuzibuza ukuthi kungani ingane engaphenduli ebuhlungu, kanti udokotela wengane kungenzeka ukuthi asebenze ezinye izivivinyo zokuxilonga ngesifo sezinzwa.
Izingane ezine-CIPA zivame ukulimala ngokuphindaphindiwe noma zishiswe ngoba azigwemi umsebenzi obuhlungu. Futhi, bangakwazi ngisho nokuhlakulela amanxeba aphethwe yizifo ngenxa yokuthi abavikela izilonda zabo ngokuyisimangaliso kusuka ebuhlungu obuqhubekayo. Ngezinye izikhathi, izingane ezineCIPA zidinga ukuhlolwa ngokwemithi ngenxa yokulimala ngokweqile.
Uma ithimba lezokwelapha libheke ukuziphatha okungajwayelekile ngokubhekene nobuhlungu, lokhu kungaholela ekuhlolweni kwe-neuropathy yezinzwa.
I-Anhydrosis (Ukungabi Nesifungo): I- Hydrosis isho ukujuluka. I-anhydrosis kusho ukungabi nokuthuthumela. Ngokujwayelekile, ukujula phezu kwesikhumba kusiza ukuphothula umzimba uma sishisa kakhulu ekuzivocavoca noma kusuka emkhunjini ophezulu. Izingane (kanye nabantu abadala) abane-CIPA babhekana nemiphumela ye-anhydrosis, njengamafiva aphezulu kakhulu, ngoba ayinakho ukuvikelwa okuphefumula okungavulekayo.
Ukuxilongwa
Awekho ukuhlolwa kwe-X-ray elula noma ukuhlolwa kwegazi okungakwazi ukubona i-CIPA. Abanye abantu abane-CIPA banemizwa engavamile kakhulu futhi bangabi namagundane e-sweat kwi-biopsy.
Isivivinyo sokuhlolisisa kunazo zonke se-CIPA yisimo sokuhlolwa kofuzo , okungenziwa ngaphambi kokuzalwa noma ebuntwaneni noma kumuntu omdala. Kukhona ukungajwayelekile okwejwayelekile kwezakhi zofuzo ezikhomba i-CIPA, futhi kuthiwa i-gene TRKA (NTRKI) yesakhi se-chromosome 1 (1q21-q22). Isivivinyo se-DNA sezakhi zofuzo singabonisa ukungafani kwalesi sifo, okuqinisekisa ukutholakala kwe-CIPA.
Izimbangela Eziyinhloko
I-CIPA yisifo esiyifa. Kuyi- autosomal ngokweqile , okusho ukuthi noma yimuphi umuntu onecala le-CIPA kumele athathe ifa lesisuka kubo bobabili abazali.
Ngokuvamile, abazali bezingane ezithintekile baphatha isakhi, kepha abanaso lesi sifo uma bezuza ifa kuphela kumzali oyedwa.
Ijethi elingavamile elibhekene neCIPA, i-TRKA yabantu (i-NTRK1), isisindo esiqondisa umzimba ukuthuthukisa izinzwa ezivuthiwe. Ikhuthaza ngokukhethekile ukukhula komgogodla ngokufaka ikhodi ebizwa ngokuthi i-tyrosine kinase (RTK,), okuyi-autophosphorylated ekuphenduleni ukukhula kwe-nerve factor (NGF).
Uma lesi sakhi singenasici, njengoba kuphakathi kwalabo abane-CIPA, izinzwa ezizwayo kanye nezinye izinzwa ezizimele aziyikuthuthukisa ngokugcwele, ngakho-ke izinzwa ezizwelayo azikwazi ukusebenza kahle ukuze zizwe imiyalezo yobuhlungu nokushisa futhi umzimba awukwazi ukuveza ukuthuthumela.
Ukwelashwa kwe-CIPA
Ngesikhathi samanje, ayikho yokwelapha etholakalayo engaphulukisa izifo ze-CIPA noma esikhundleni senzwa elahlekile yobuhlungu noma umsebenzi wokuthuthumela.
Izingane ezinesifo kufanele zifunde ukuzama ukuvimbela ukulimala nokuqapha ukulimala ngokucophelela ukuze kugweme ukutheleleka. Abazali nabanye abantu abadala abakhathalela izingane nge-CIPA kumele bahlale beqaphele, njengoba izingane ngokwemvelo zingase zifune ukuzama izinto ezintsha ngaphandle kokuqonda ngokugcwele ukubaluleka kokulimala ngokomzimba.
Ukulindela
Uma wena noma othandekayo uye wathola ukuthi une-CIPA, ungaba nempilo enempilo futhi enenzuzo ngokunakekelwa kahle kwezokwelapha nokulungiswa kwendlela yokuphila. Ukwazi ukuthi isifo sofuzo kubalulekile ekucatshangweni kokuhlela komndeni.
I-CIPA iyisifo esingavamile, futhi ngokuvamile, ukuthola amaqembu ezesekelo ngezinkinga zempilo eziyingqayizivele kungasiza ngokuthola ukwesekwa komphakathi nokufunda ngamathiphu asebenzayo okusiza ukuba uhlale noCIPA lula.
> Imithombo:
Ukuhlolwa Okusebenzayo Okuphelele Kwe-NTRK1 I-Missense Mutations Edala I-Hereditary Sensory and Autonomic Neuropathy Uhlobo IV (HSAN IV), uShaikh SS, Chen YC, Halsall SA, Nahorski MS, Omoto K, Young GT, Phelan A, Woods CG, Hum Mutat. 2017 Jan; 38 (1): 55-63
> Izinguquko ku-TrkA ezibangela ukungaqiniseki kobungqingili ku-Pain nge-Anhidrosis (CIPA) Ukungahambi kahle kwe-Induce, Ukugxeka, nokuxhomekeka kweMthamo nge-Duplication of the Autophagic Flux. Franco ML, Melero C, Sarasola E, Acebo P, Luque A, Calatayud-Baselga I, García-Barcina M, Vilar M, J Biol Chem. 2016 Okthoba 7; 291 (41