Ukungavalelwanga komntwana kunye nentlungu kunye ne-anhydrosis (i-CIPA) isifo esingaqhelekanga esiyingozi esibangela abantu abachaphazelekayo ukuba bangakwazi ukuziva buhlungu kwaye bangakwazi ukukhupha (i-anhydrosis). Kwakhona kuthiwa yi-heritage sensory ne-autonomic neuropathy uhlobo IV (HSAN IV).
Eli gama lichazayo kakhulu kuba lichaza iimpawu ezibalulekileyo zesifo.
Le meko ifa, oku kuthetha ukuba isebenza kwiintsapho. I- neuropathy ebonakalayo ibonisa ukuba isifo sesifo esichaphazela ngokuthe ngqo iimbilini ezilawula ukuvakalelwa. Iimvumi ze-Autonomic ziyi-nervo ezilawula imisebenzi yokuphila yomzimba. I-CIPA, okanye i-HSAN IV, ichaphazela ngokuthe ngqo iimbulunga ezizimelayo ezilawula ukujuluka.
Iimpawu zeCIPA
Isifo se-CIPA sikhona ekuzalweni kwaye kwenza abantu bangakwazi ukuziva intlungu okanye ukushisa kwaye bangakwazi ukuthukuma. Iimpawu zibonakaliswa ebuntwaneni kwaye isifo sifumaneka kuluhlaza ngexesha lobuncinci.
Ukungabikho Kwentlungu: Ininzi labantu abaneCIPA abakhalazi 'ukungabikho kwentlungu' okanye 'ukungafi.' Kunoko, abantwana abaneCIPA bafumana ukulimala okanye ukutshisa ngaphandle kokukhala, ukukhalaza okanye ukuphawula. Abazali banokubona ukuba umntwana ophethe i-CIPA unomntwana onomnene, kunokuba aqaphele ingxaki. Emva kwithuba elithile, abazali bangase bazibuze ukuba kutheni umntwana engaphenduli kwiintlungu, kwaye ugqirha wengane mhlawumbi uya kuqhuba iimvavanyo zokuxilonga ngezifo zesigulane.
Abantwana abaneCIPA baxhatshazwa ngokuphindaphindiweyo okanye batshiswa ngenxa yokuba abaphepheli umsebenzi obuhlungu. Kwaye, banokuthi bavelise amanxeba aphethwe yi-HIV ngenxa yokuba abazikhusela ngokusemthethweni amanxeba abo ukusuka kwintlungu. Ngamanye amaxesha, abantwana abaneCIPA kufuneka bahlolwe ngonyango ngenxa yokulimala ngokweqile.
Xa iqela lezokwelapha lijonga ukuziphatha okungaqhelekanga ekujonganeni nentlungu, oku kunokubangela ukuvavanya kwintsholongwane ye-neuropathy.
I-Anhydrosis (Ukungabi Nesifungo): I- Hydrosis ithetha ukufufuma. I-Anhydrosis ithetha ukungabi nokukhupha. Ngokuqhelekileyo, ukujuluka phezu kwesikhumba kunceda ukupholisa umzimba xa sitshisa kakhulu kwisenzo okanye sishushu ephezulu. Abantwana (kunye nabantu abadala) abane-CIPA babandezeleka ngenxa ye-anhydrosis, njengezikhuhlane eziphezulu kakhulu, ngenxa yokuba abanakho ukukhusela "ukupholisa" okukhuphayo okuza kunika.
Ukuxilongwa
Akukho zixhobo ezilula ze-X-ray okanye iimvavanyo zegazi ezingakwazi ukuchonga i-CIPA. Abanye abantu abaneCIPA banemisipha engaphelelekanga kunye nokungabikho kweengcungcuthe zomzimba kwi-biopsy.
Uvavanyo oluchanekileyo lokuhlolisisa i-CIPA luvavanyo lofuzo , oluya kwenziwa ngaphambi kokuzalwa okanye ngexesha lokuzalwa okanye ukudala. Kukho ukungaqhelekanga okungaqhelekanga okuchaza i-CIPA, kwaye ibizwa ngokuba ngumgubo we-TRKA (NTRKI) womntu ohlala kwi-chromosome 1 (1q21-q22). Uvavanyo lwe-DNA lwezityalo luyakwazi ukubona ukungaqhelekanga kwesi sifo, ukuqinisekisa ukuxilongwa kweCIPA.
Izizathu eziPhambili
I-CIPA isifo esiyifa. Kuyi- autosomal ngokweqile , oku kuthetha ukuba nayiphi na umntu onesiCIPA kufuneka azuze ifa lomgubo kubazali bobabini.
Ngokuqhelekileyo, abazali bomntwana ochaphazelekayo baphatha imfuza, kodwa abanalo isifo ukuba bafumana ifa lomntu omnye kuphela.
Umzimba ongaqhelekanga ojongene neCIPA, i-TRKA yabantu (i-NTRK1), ngumgubo olawula umzimba ukuba uhlakulele imisipha ekhulileyo. Ikhuthaza ngokukhawuleza ukukhula kweentambo ngokufaka ikhowudi ebizwa ngokuba yi-tyrosine kinase (RTK,), eyi-autophosphorylated in response to factor growth (NGF).
Xa lo mzimba ungenasiphelo, njengokuba kunjalo phakathi kwalabo abaneCIPA, iimvakalelo zengqondo kunye nezinye izigulane ezizimelayo aziyi kuphuhliswa ngokupheleleyo, kwaye ngoko ke iingxaki zengqondo azikwazi ukusebenza ngokufanelekileyo ukuva imiyalezo yentlungu kunye nokushisa kwaye umzimba awukwazi ukuvelisa.
Unyango lweCIPA
Ngeli xesha, akukho nonyango ekhoyo ekwazi ukuphilisa izifo zeCIPA okanye ukubuyisela ukuvakalelwa kwintlungu okanye umsebenzi wokujuluka.
Abantwana abanesifo kufuneka bafunde ukuzama ukukhusela ukulimala kunye nokubeka iliso ngenyameko ukwenzela ukuphepha ukhuseleko. Abazali nabanye abantu abadala abanakekela abantwana abaneCIPA kufuneka bahlale bephaphile, njengokuba abantwana ngokwemvelo banokuzama ukuzama izinto ezintsha ngaphandle kokuqonda ngokupheleleyo ukubaluleka kokubakala kwenyama.
Lindele
Ukuba wena okanye umntu obathandayo uye wafumanisa ukuba ukhona neCIPA, unokufumana ubomi obunempilo novelisayo kunye nokunonophelo olululo lwezonyango kunye nokulungiswa kwendlela yokuphila. Ukwazi ukuba isifo sofuzo kubalulekile xa kuqhathaniswa nokucwangcisa intsapho.
I-CIPA yintlupheko engaqhelekanga, kwaye ngokuqhelekileyo, ukufumana amaqela enkxaso kwiingxaki zezempilo ezikhethekileyo kunokuncedisa ngokufumana inkxaso yentlalo kunye nokufunda malunga namacebiso ancedayo ekuncedeni ukwenza lula ngeCIPA.
> Imithombo:
Ukuhlalutya ngokubanzi okusebenzayo kwe-NTRK1 Ukuguquka kweentsilelo ezibangelwa i-Hereditary Sensory and Autonomic Neuropathy Uhlobo IV (HSAN IV), uShaikh SS, u-Chen YC, u-Halsall SA, uNahorski MS, u-Omoto K, i-Young GT, i-Phelan A, i-Woods CG, i-Hum Mutat. 2017 Jan; 38 (1): 55-63
> Utshintsho kwi-TrkA kubangela ukungabikho kobuthathaka kwi-Pain kunye ne-Anhidrosis (i-CIPA) Ukungabikho komsebenzi, ukuxhamla, kunye nokuxhomekeka kweMthamo ku-Neurodegeneneration nge-Dysfunction 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 Oktobha 7; 291 (41