Matenda a Rett

Matenda a Rett (RTT) ndimatenda amanjenje. Izi zimabweretsa mavuto amakulidwe mwa ana. Zimakhudza kwambiri luso la chilankhulo komanso kugwiritsa ntchito dzanja.

RTT imachitika pafupifupi nthawi zonse mwa atsikana. Itha kupezeka ngati autism kapena cerebral palsy.

Milandu yambiri ya RTT imachitika chifukwa chamavuto amtundu wotchedwa MECP2. Mtundu uwu uli pa X chromosome. Akazi ali ndi ma X chromosomes awiri. Ngakhale chromosome imodzi ili ndi vuto ili, X yina chromosome ndi yachibadwa mokwanira kuti mwanayo akhale ndi moyo.

Amuna obadwa ndi jini lopunduka alibe X chromosome yachiwiri yopangira vutoli. Chifukwa chake, chilema chimadzetsa padera, kubala ana akufa, kapena kufa msanga kwambiri.

Khanda lomwe lili ndi RTT nthawi zambiri limakula bwino kwa miyezi 6 mpaka 18 yoyamba. Zizindikiro zimayambira pofatsa mpaka zovuta.

Zizindikiro zimaphatikizapo:

• Mavuto apuma, omwe amatha kukulira ndi nkhawa. Kupuma nthawi zambiri kumakhala koyenera pogona komanso modabwitsa mukadzuka.
• Sinthani chitukuko.
• Kuchuluka malovu ndi malovu.
• Manja ndi miyendo yambiri, yomwe nthawi zambiri imakhala chizindikiro choyamba.
• Kulemala kwamalingaliro ndi zovuta kuphunzira.
• Scoliosis.
• Wosakhazikika, wosakhazikika, wolimba kapena wopondaponda phazi.
• Kugwidwa.
• Kukula kwakuchepa kwa mutu kuyambira pa 5 mpaka 6 wazaka zakubadwa.
• Kutaya magonedwe abwinobwino.
• Kutayika kwa manja mwadala: Mwachitsanzo, kumvetsetsa komwe kumanyamula zinthu zazing'ono kumasinthidwa ndikubwereza dzanja mobwerezabwereza monga kupindika m'manja kapena kusanjika manja pakamwa.
• Kutaya chibwenzi.
• Kupitilira, kudzimbidwa koopsa komanso gastroesophageal reflux (GERD).
• Kuyenda kosavomerezeka komwe kungayambitse mikono ndi miyendo yozizira komanso yabuluu.
• Mavuto akulu pakukula kwa chilankhulo.

ZOYENERA: Mavuto ndi kupuma angakhale chizindikiro chokhumudwitsa kwambiri komanso chovuta kwambiri kuti makolo awone. Zomwe zimachitikira komanso zoyenera kuchita za iwo sizikumveka bwino. Akatswiri ambiri amalangiza kuti makolo azikhala odekha panthawi yopuma mosasunthika ngati kupumira mpweya. Zitha kuthandiza kudzikumbutsa kuti kupuma koyenera nthawi zonse kumabwerera ndikuti mwana wanu azolowere kupuma mosazolowereka.

Kuyesedwa kwa majini kumatha kuchitidwa kuti tione vuto la jini. Koma, popeza chilemacho sichikupezeka mwa aliyense amene ali ndi matendawa, kudziwa kuti RTT imachokera kuzizindikiro.

Pali mitundu yosiyanasiyana ya RTT:

• Zosavomerezeka
• Zakale (zimakwaniritsa njira zowunikira)
• Zosakhalitsa (zizindikiro zina zimawoneka pakati pa zaka 1 ndi 3)

RTT imagawidwa ngati yopanda tanthauzo ngati:

• Imayamba msanga (atangobadwa kumene) kapena mochedwa (kupitirira miyezi 18, nthawi zina mpaka zaka 3 kapena 4)
• Mavuto olankhula ndi luso pamanja ndi ofatsa
• Ngati ziwoneka mwa mnyamata (zosowa kwambiri)

Chithandizo chingaphatikizepo:

• Thandizani pakudyetsa komanso kusinthanitsa
• Njira zothandizira kudzimbidwa ndi GERD
• Thandizo lakuthupi popewa mavuto am'manja
• Zochita zolemera zolemera ndi scoliosis

Kudyetsa kowonjezera kungathandize pakukula kocheperako. Phukusi lodyetsera lingafunike ngati mwanayo amapuma chakudya cha (aspirates). Zakudya zopatsa mafuta kwambiri komanso mafuta ophatikizira machubu odyetsa zitha kuthandiza kuwonjezera kunenepa komanso kutalika. Kunenepa kumatha kupititsa patsogolo chidwi komanso kulumikizana.

Mankhwala atha kugwiritsidwa ntchito kuthana ndi khunyu. Zowonjezera zimatha kuyesedwa pakudzimbidwa, kukhala tcheru, kapena minofu yolimba.

Chithandizo cha cell stem, chokha kapena chophatikiza ndi mankhwala amtundu, ndichithandizo china chodalirika.

Magulu otsatirawa atha kupereka zidziwitso zambiri pa matenda a Rett:

• Mayiko a Rett Syndrome Foundation - www.rettsyndrome.org
• National Institute of Neurological Disorder and Stroke - www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Rett-Syndrome-Fact-Sheet
• National Organisation for Rare Disways - rarediseases.org/rare-diseases/rett-syndrome

Matendawa amafika pang'onopang'ono mpaka zaka zaunyamata. Kenako, zizindikilo zimatha kusintha. Mwachitsanzo, kugwidwa kapena kupuma kwamavuto kumachepa kumapeto kwa zaka za m'ma 20.

Kuchedwa kwachitukuko kumasiyanasiyana. Nthawi zambiri, mwana yemwe ali ndi RTT amakhala bwino, koma sangakwere. Kwa iwo omwe akukwawa, ambiri amatero pokoka pamimba popanda kugwiritsa ntchito manja.

Mofananamo, ana ena amayenda paokha osakwanitsa zaka, pomwe ena:

• Mukuchedwa
• Osaphunzira kuyenda palokha konse
• Osaphunzira kuyenda mpaka udakali mwana kapena udakali unyamata

Kwa ana omwe amaphunzira kuyenda nthawi yanthawi zonse, ena amasunga kuthekera kumeneko pamoyo wawo wonse, pomwe ana ena amataya luso.

Zoyembekeza za moyo sizinaphunzire bwino, ngakhale kupulumuka mpaka zaka za m'ma 20 kuli kotheka. Nthawi yayitali ya moyo wa atsikana atha kukhala azaka zapakati pa 40s. Imfa nthawi zambiri imakhudzana ndi kulanda, kufuna chibayo, kusowa zakudya m'thupi, ndi ngozi.

Imbani wothandizira zaumoyo wanu ngati:

• Khalani ndi nkhawa zakukula kwa mwana wanu
• Zindikirani kuti mwana wanu alibe chitukuko chokhazikika ndi luso lamagalimoto kapena chilankhulo
• Ganizirani kuti mwana wanu ali ndi matenda omwe amafunikira chithandizo

RTT; Scoliosis - matenda a Rett; Kulemala kwamalingaliro - Matenda a Rett

Kwon JM. Matenda a Neurodegenerative aubwana. Mu: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, olemba. Nelson Textbook of Pediatrics. Wolemba 20th. Philadelphia, PA: Elsevier; 2016: chap 599.

Mink JW. Matenda obadwa nawo, otukuka, komanso amisala. Mu: Goldman L, Schafer AI, olemba. Mankhwala a Goldman-Cecil. Wolemba 25. Philadelphia, PA: Elsevier Saunders; 2016: chap 417.