CISA ndi matenda osachiritsika omwe amachititsa anthu ovutika kuti asamve ululu komanso sangathe kulumpha (anhydrosis). Amatchedwanso kuti choloŵa chokhala ndi choloŵa chokhala ndi ubongo wa mtundu wa IV (HSAN IV).
Dzina limeneli ndilofotokozera kwambiri chifukwa limatanthauzira zizindikiro zingapo zofunika za matendawa.
Chikhalidwe ndi cholowa, kutanthauza kuti chimayambira m'mabanja. Nthenda ya ubongo imatanthawuza kuti ndi matenda a mitsempha yomwe imakhudza makamaka mitsempha yomwe imalamulira kumva. Mitsempha yotetezedwa ndi mitsempha yomwe imayendetsa kugwira ntchito za thupi. CIPA, kapena HSAN IV, imakhudza makamaka mitsempha yodzilamulira yomwe imalamulira thukuta.
Zizindikiro za CIPA
Matenda a CIPA amapezeka pakubereka ndipo amachititsa kuti anthu asamve ululu kapena kutentha komanso osakhoza kutuluka thukuta. Zizindikiro zimayamba kuonekera ali mwana ndipo matendawa amapezeka kuti ali mwana.
Kuperewera Kwachisoni: Anthu ambiri omwe ali ndi CIPA samadandaula ndi 'kusoŵa ululu' kapena 'kusowa thukuta.' M'malo mwake, ana omwe ali ndi CIPA poyamba amavulala kapena amawotcha popanda kulira, kudandaula kapena ngakhale kuzindikira. Makolo angaone kuti mwana yemwe ali ndi CIPA ndi mwana waulemu, m'malo mozindikira vuto. Patapita kanthawi, makolo angayambe kudzifunsa kuti, "Chifukwa chiyani mwanayo samayankha kuvutika," ndipo dokotala wa mwanayo akhoza kuyesa mayesero a matenda a mitsempha.
Ana omwe ali ndi CIPA amavulala mobwerezabwereza kapena amawotchedwa chifukwa samapewa ntchito zopweteka. Ndipo, amatha kukhala ndi zilonda zapachilombo chifukwa samateteza zilonda zawo mowonjezereka. Nthawi zina, ana omwe ali ndi CIPA amafunika kufufuza mankhwala chifukwa chovulala kwambiri.
Pamene gulu lachipatala likuyang'ana khalidwe losadziwika bwino pamtundu wa ululu, izi zingayambitse kuyesa kwa matenda okhudza ubongo.
Anhydrosis (Kupanda Kutupa): Hydrosis amatanthauza kutukuta. Anhydrosis amatanthauza kusowa thukuta. Kawirikawiri, thukuta pamwamba pa khungu limathandiza kutentha thupi pamene timatentha kwambiri ku masewero olimbitsa thupi kapena kutentha thupi. Ana (ndi akulu) omwe ali ndi CIPA amavutika chifukwa cha anhydrosis, monga kutentha kwakukulu, chifukwa sakhala ndi chitetezo chomwe chimatuluka.
Kudziwa
Palibe mayesero ovuta a X-ray kapena mayeso a magazi omwe angathe kuzindikira CIPA. Anthu ena omwe ali ndi CIPA ali ndi mitsempha yopanda chithunzithunzi komanso kusowa kwa mitsempha ya thukuta.
Chidziwitso chodziwika kwambiri cha kuyeza kwa CIPA ndi kuyesedwa kwa chibadwa , chomwe chikhoza kuchitika asanabadwe kapena ali mwana kapena wamkulu. Pali zachibadwa zosabadwa zomwe zimadziwika kuti CIPA, ndipo imatchedwa jini la TRKA (NTRKI) la munthu lomwe lili pa chromosome 1 (1q21-q22). Chibadwa cha DNA choyesera chikhoza kusonyeza kusalongosoka kwa jini ili, kutsimikizira kuti matenda a CIPA akupezeka.
Zomwe Zimayambitsa Mavuto
CIPA ndi matenda obadwa nawo. Ndi autosomal recessive , kutanthauza kuti munthu aliyense amene ali ndi CIPA ayenera kulandira jini kuchokera kwa makolo onsewo.
Kawirikawiri, makolo a mwana yemwe ali ndi kachilomboka amanyamula jini, koma alibe matenda ngati adzalandira jini kuchokera kwa kholo limodzi.
Jini losadziwika lomwe lili ndi CIPA, TRKA (NTRK1) ya munthu, ndi jini lomwe limatsogolera thupi kuti likhale ndi mitsempha yokhutira. Amalimbikitsa kwambiri kukula kwa mitsempha mwa kutsekemera kapepala kotchedwa tyrosine kinase (RTK,), yomwe imapanga autophosphorylated chifukwa cha nerve kukula factor (NGF).
Pamene jini ili losavomerezeka, monga lirili pakati pa iwo omwe ali ndi CIPA, mitsempha yowonongeka ndi mitsempha yowonjezera siimakula bwino, ndipo motero mitsempha yokhudzidwa silingagwire ntchito bwino kuti imve mauthenga a ululu ndi kutentha ndipo thupi silingakhoze kutulutsa thukuta.
Kuchiza kwa CIPA
Pakalipano, palibe mankhwala omwe angachiritse matenda a CIPA kapena m'malo mwa kusweka kwa ululu kapena ntchito ya thukuta.
Ana omwe ali ndi matendawa ayenera kuphunzira kuyesetsa kupeŵa kuvulala ndi kuyang'anitsitsa kuvulala mosamala kuti asapewe matenda. Makolo ndi anthu ena akuluakulu omwe amasamalira ana omwe ali ndi CIPA ayenera kukhalabe maso, monga momwe ana mwachibadwa angafune kuyesa zinthu zatsopano popanda kumvetsa bwino kufunika kwa kuvulala.
Zoyembekeza
Ngati inu kapena wokondedwa wanu mwapezeka kuti muli ndi CIPA, mukhoza kukhala ndi moyo wathanzi ndi wopindulitsa ndi chithandizo chamankhwala chabwino ndi kusintha kwa moyo wanu. Kudziwa kuti ndi matenda a chibadwa ndikofunika kwambiri pankhani ya kulera.
CIPA ndi matenda osadziwika, ndipo nthawi zambiri kupeza magulu othandizira mavuto osiyanasiyana azaumoyo kungathandize kuthandizira anthu komanso kuphunzira za malangizo othandizira kukhala ndi CIPA mosavuta.
> Zotsatira:
> Zomwe Zimagwira Ntchito Zambiri za NTRK1 Maphunziro a Missens Mutations Amachititsa Odwala Hereditary Sensory ndi 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
> Zosinthika mu TrkA Zimapangitsa Kukhala Wachibale Wosakanikirana ndi Kuvutika ndi Anhidrosis (CIPA) Kutayika, Kusagwirizana, ndi Kutengera Kudalira Mthupi mwa Kusokonezeka kwa Flux. 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