Matenda a Fragile X

Matenda a Fragile X ndi chibadwa chomwe chimakhudza kusintha kwa gawo la X chromosome. Ndi njira yodziwika kwambiri yokhudzana ndi vuto laubadwa mwa anyamata.

Matenda a Fragile X amayamba chifukwa cha kusintha kwa jini yotchedwa FMR1. Gawo laling'ono la jini limabwerezedwa kangapo m'dera limodzi la X chromosome. Kubwereza mobwerezabwereza, vutoli limachitika.

Pulogalamu ya FMR1 jini imapanga mapuloteni ofunikira kuti ubongo wanu ugwire bwino ntchito. Kulephera kwa jini kumapangitsa thupi lanu kutulutsa mapuloteni ochepa kwambiri, kapena kusapezekanso.

Anyamata ndi atsikana atha kukhudzidwa, koma chifukwa anyamata amakhala ndi chromosome imodzi yokha ya X, kukulira kwa X kamodzi kosalimba kumawakhudza kwambiri. Mutha kukhala ndi matenda a X osalimba ngakhale makolo anu alibe.

Mbiri yakubadwa ya matenda osalimba a X, zovuta zakukula, kapena kulumala m'malingaliro mwina sipangakhale.

Mavuto amachitidwe okhudzana ndi matenda osalimba a X ndi awa:

• Matenda a Autism
• Kuchedwa kukwawa, kuyenda, kapena kupotoza
• Kukwapula m'manja kapena kuluma dzanja
• Khalidwe losasamala kapena lopupuluma
• Kulemala kwamaluso
• Kuyankhula ndi kuchedwa kwa chilankhulo
• Chizoloŵezi chopewa kuyang'anitsitsa maso

Zizindikiro zakuthupi zimatha kuphatikiza:

• Mapazi apansi
• Mafupa osinthasintha komanso kuchepa kwa minofu
• Kukula kwakukulu kwa thupi
• Chipumi chachikulu kapena makutu ndi nsagwada yotchuka
• Kutalika nkhope
• Khungu lofewa

Ena mwa mavutowa amapezeka pakubadwa, pomwe ena samakula atatha msinkhu.

Achibale omwe amabwereza kangapo mu FMR1 jini sangakhale wolumala waluntha. Azimayi amatha kusamba msanga kapena kuvutika kukhala ndi pakati. Amuna ndi akazi atha kukhala ndi vuto lanjenjemera komanso kusagwirizana bwino.

Pali zizindikiro zochepa zakunja kwa matenda osalimba a X mwa makanda. Zinthu zina zomwe wothandizira zaumoyo angafune ndi izi:

• Kuzungulira kwamutu waukulu kwa makanda
• Kulemala kwamaluso
• Machende akulu pambuyo pa kutha msinkhu
• Kusiyana kwakubisika pamaso

Kwa akazi, manyazi owonjezera akhoza kukhala chizindikiro chokhacho cha matendawa.

Kuyezetsa magazi kumatha kuzindikira matendawa.

Palibe mankhwala enieni a matenda a X osalimba. M'malo mwake, maphunziro ndi maphunziro apangidwa kuti athandize ana omwe akukhudzidwa kuti azigwira ntchito bwino kwambiri. Mayesero azachipatala akupitilirabe (www.clinicaltrials.gov/) ndikuyang'ana mankhwala angapo omwe angakhalepo pakuthana ndi matenda a X osalimba.

National Fragile X Foundation: fragilex.org/

Momwe munthuyo amachitira bwino zimadalira kuchuluka kwaumalemala waluntha.

Zovuta zimasiyanasiyana, kutengera mtundu ndi kuopsa kwa zizindikilo. Zitha kuphatikiza:

• Matenda opatsirana khutu mwa ana
• Matenda osokoneza bongo

Matenda a Fragile X amatha kukhala chifukwa cha autism kapena zovuta zina, ngakhale si ana onse omwe ali ndi matenda a X osalimba omwe ali ndi izi.

Upangiri wa chibadwa ungakhale wothandiza ngati muli ndi banja lomwe lili ndi vutoli ndipo mukukonzekera kutenga pakati.

Matenda a Martin-Bell; Matenda a Marker X

Wosaka JE, Berry-Kravis E, Hipp H, Todd PK. FMR1 zovuta. Zowonjezera. 2012: 4. PMID: 20301558 pubed.ncbi.nlm.nih.gov/20301558/. Idasinthidwa Novembala 21, 2019.

Kumar V, Abbas AK, Aster JC. Matenda achibadwa ndi ana. Mu: Kumar V, Abbas AK, Aster JC, olemba, eds. Matenda Akuluakulu a Robbins. 10th ed. Philadelphia, PA: Elsevier; 2018: mutu 7.

Madan-Khetarpal S, Arnold G. Matenda amtundu komanso zovuta za dysmorphic. Mu: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli ndi Davis ’Atlas of Pediatric Physical Diagnosis. Wachisanu ndi chiwiri. Philadelphia, PA: Elsevier; 2018: mutu 1.