I-Achondroplasia

I-Achondroplasia kukuphazamiseka kokukhula kwethambo okubangela olona hlobo luqhelekileyo lobufutshane.

I-Achondroplasia yenye yeqela leengxaki ezibizwa ngokuba yi-chondrodystrophies, okanye i-osteochondrodysplasias.

I-Achondroplasia inokufumana ilifa njengeyona nto iphambili kwi-autosomal, oko kuthetha ukuba ukuba umntwana ufumana ufuzo olungalunganga kumzali omnye, umntwana uya kuba nengxaki. Ukuba omnye umzali une-achondroplasia, usana lunethuba lama-50% lokuzuza njengelifa esi sifo. Ukuba bobabini abazali banayo le meko, amathuba osana lokuchaphazeleka anyuka aye kwi-75%.

Nangona kunjalo, uninzi lwamatyala avela njengokutshintsha okuzenzekelayo. Oku kuthetha ukuba abazali ababini ngaphandle kwe-achondroplasia banokuzala umntwana onale meko.

Inkangeleko yesiqhelo ye-achondroplastic dwarfism inokubonwa xa kuzalwa. Iimpawu zingabandakanya:

• Ukubonakala kwesandla ngokungaqhelekanga kunye nendawo eqhubekayo phakathi kweminwe emide kunye neeringi
• Uthobile imilenze
• Ukuncipha kwemisipha
• Ngokungafaniyo ubukhulu bentloko nobukhulu bomzimba
• Ibunzi eliphambili (umphathi wangaphambili)
• Ukunciphisa izandla kunye nemilenze (ngakumbi ingalo ephezulu kunye nethanga)
• Isifutshane (ubukhulu obungaphantsi komndilili womntu okwiminyaka efanayo kunye nesini)
• Ukunciphisa ikholamu yomgogodla (i-spinal stenosis)
• Amagqabi omqolo abizwa ngokuba yi-kyphosis kunye ne-Lordosis

Ngexesha lokukhulelwa, i-ultrasound yangaphambi kokubeleka inokubonisa i-amniotic fluid egqithisileyo ejikeleze usana olungekazalwa.

Uvavanyo lwentsana emva kokuzalwa lubonisa ukwanda kobungakanani bentloko ngaphambili nangasemva. Kunokubakho iimpawu zehydrocephalus ("amanzi kwingqondo").

I-X-ray yamathambo amade angabonisa i-achondroplasia kusana olusandul 'ukuzalwa.

Akukho lonyango oluthile lwe-achondroplasia. Ukuchaphazeleka okunxulumene noko, kubandakanya isifo somqolo kunye noxinzelelo lomqolo womqolo, kufuneka ziphathwe xa zibangela iingxaki.

Abantu abane-achondroplasia kunqabile bafike kwii-5 yeenyawo (1.5 yeemitha) ukuphakama. Ubukrelekrele bukuluhlu oluqhelekileyo. Iintsana ezifumana ufuzo olungaqhelekanga kubazali bobabini azihlali zihlala ngaphaya kweenyanga ezimbalwa.

Iingxaki zempilo ezinokuphuhlisa zibandakanya:

• Iingxaki zokuphefumla kwindlela encinci yomoya ephezulu kunye noxinzelelo kwindawo yengqondo elawula ukuphefumla
• Iingxaki zemiphunga ezivela kwimbambo encinci

Ukuba kukho imbali yosapho ye-achondroplasia kwaye ucwangcisa ukuba nabantwana, unokukufumanisa kuluncedo ukuthetha nomboneleli wakho wezempilo.

Ingcebiso ngemfuzo ingaluncedo kubazali abanokubakho xa omnye okanye bobabini bane-achondroplasia. Nangona kunjalo, ngenxa yokuba i-achondroplasia ihlala ikhula ngokuzenzekelayo, ukuthintela akusoloko kunokwenzeka.

IHoover-Fong JE, Horton WA, Hecht JT. Ukuphazamiseka okubandakanya ii-transmembrane receptors. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahl 716.

I-Krakow D. FGFR3 ukuphazamiseka: kune-atoporic dysplasia, achondroplasia, kunye hypochondroplasia. Ku: ICopel JA, D'Alton ME, uFeltovich H, et al, ii-eds. Ukulinganisa: Ukuchonga umbungu kunye noKhathalelo. Ngomhla wesi-2. IPhiladelphia, PA: Elsevier; I-2018: isahluko 50.