Rett chirwere

Rett syndrome (RTT) chirwere chetsinga. Aya mamiriro anotungamira kumatambudziko ebudiriro muvana. Inonyanya kukanganisa kugona kwemitauro uye kushandiswa kwemaoko.

RTT inoitika kazhinji nguva dzose muvasikana. Inogona kuongororwa se autism kana cerebral palsy.

Mhosva zhinji dzeRTT dzinokonzerwa nedambudziko mune geni inonzi MECP2. Iri geni riri pane X chromosome. Vakadzi vane 2 X chromosomes. Kunyangwe kana imwe chromosome iine urema uhu, imwe X chromosome yakajairika kuti mwana ararame.

Vanhurume vanozvarwa neiri geni rakaremara havana yechipiri X chromosome yekugadzirisa dambudziko iri. Naizvozvo, hurema hunowanzo guma nekuparara, kubereka mwana akafa, kana kufa kwekutanga.

Mucheche ane RTT anowanzo kuve neakajairika kukura kwemwedzi mitanhatu kusvika gumi nemisere. Zviratidzo zvinobva pane zvinyoro kusvika kune zvakanyanya.

Zviratidzo zvinogona kusanganisira:

• Zvinetso zvekufema, izvo zvinogona kuwedzera kushushikana. Kufema kunowanzoitika panguva yekurara uye kushomeka paunenge wakamuka.
• Chinja mukuvandudza.
• Mate akawandisa uye nekumwisa mate.
• Floppy maoko nemakumbo, ayo anowanzo kuve chiratidzo chekutanga.
• Kuremara kwehungwaru uye matambudziko ekudzidza.
• Scoliosis.
• Shaky, kusagadzikana, kuomarara gait kana chigunwe kufamba.
• Kufenda.
• Inononoka kukura kwemusoro kutanga pamwedzi mashanu kusvika kumatanhatu ezera.
• Kurasikirwa kwemaitiro akarara akarara.
• Kurasikirwa kwekufamba kwemaoko kune chinangwa: Semuenzaniso, kubata kunoshandiswa kutora zvinhu zvidiki kunotsiviwa nekudzokororwa kwemaoko ruoko sekumonyororwa ruoko kana kugara uchiisa maoko mumuromo.
• Kurasikirwa kwekudyidzana.
• Kuenderera mberi, kuvharirwa kwakanyanya uye gastroesophageal reflux (GERD).
• Kutenderera kwakashata uko kunogona kutungamira kuchando uye bhuruu maoko nemakumbo.
• Matambudziko akakura ekuvandudza mutauro.

ONA: Matambudziko nemafemero ekufema anogona kunge ari chiratidzo chinogumbura uye chakaomesesa vabereki kuti vaone. Nei vachiitika uye zvekuita pamusoro pavo hazvinyatsonzwisisike. Nyanzvi zhinji dzinokurudzira kuti vabereki varambe vakadzikama kuburikidza nechikamu chekufema zvisina kujairika sekubata mweya. Zvinogona kubatsira kuzviyeuchidza iwe kuti kugara uchifema kunogara kuchidzoka uye kuti mwana wako anozojairira kune asina kujairika mafemo maitiro.

Kuongorora kweGenetic kunogona kuitwa kutsvaga kukanganisika kwemajini. Asi, sezvo hurema husinga zivikanwe mune wese munhu ane chirwere, kuongororwa kweRTT kunoenderana nezviratidzo.

Kune akatiwandei akasiyana marudzi eRTT:

• Atypical
• Classical (inosangana neyekuongorora nzira)
• Zvenguva (zvimwe zviratidzo zvinowoneka pakati pemakore 1 ne3)

RTT inorondedzerwa senge inypical kana:

• Inotanga kutanga (achangoberekwa) kana kunonoka (kuseri kwemwedzi gumi nesere, dzimwe nguva kusvika pamakore matatu kana mana)
• Matambudziko ekutaura uye emaoko akapfava
• Kana zvikaonekwa mumukomana (zvisingawanzoitika)

Kurapa kunogona kusanganisira:

• Batsira nekupa chikafu uye kuchinjisa
• Nzira dzekurapa kuvharirwa uye GERD
• Kurapa kwepanyama kubatsira kudzivirira matambudziko emaoko
• Kurema kutakura kurovedza muviri ne scoliosis

Kuwedzera feedings kunogona kubatsira nekudzora kukura. Iyo yekudyisa chubhu inogona kudikanwa kana mwana achifema mu (aspirates) chikafu. Kudya kwakanyanya mumakoriyori uye mafuta akasanganiswa nekupa machubhu ekudyisa anogona kubatsira kuwedzera uremu uye kukwirira. Kurera huremu kunogona kuvandudza kusvinura nekudyidzana kwevanhu.

Mishonga inogona kushandiswa kurapa pfari. Zvekuwedzera zvinogona kuyedzwa kupatirwa, kusvinura, kana kuomarara tsandanyama.

Stem cell therapy, yega kana musanganiswa negene kurapa, ndeimwe tariro yekurapa.

Aya mapoka anotevera anogona kupa rumwe ruzivo nezveRett syndrome:

• International Rett Syndrome Foundation - www.rettsyndrome.org
• National Institute yeNeurological Disorders uye Stroke - www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Rett-Syndrome-Fact-Sheet
• National Sangano reRare Dambudziko - rarediseases.org/rare-diseases/rett-syndrome

Chirwere chinowedzera zvishoma nezvishoma kusvika makore ekuyaruka. Ipapo, zviratidzo zvinogona kuvandudzika. Semuenzaniso, kugunun'una kana kufema matambudziko anowanzo kudzikira mukupedzisira makore ekuyaruka.

Kunonoka kwekuvandudza kunosiyana. Kazhinji, mwana ane RTT anogara zvakanaka, asi anogona kusatsvanzvadzira. Kune avo vanokambaira, vazhinji vanozviita nekukora padumbu ravo vasina kushandisa maoko avo.

Saizvozvo, vamwe vana vanofamba vakazvimiririra mukati meyakajairwa zera renji, nepo vamwe:

• Kunonoka
• Usadzidza kufamba wakasununguka zvachose
• Usadzidze kufamba kusvika kunonoka hudiki kana kuyaruka kwekutanga

Kune avo vana vanodzidza kufamba panguva yakajairwa, vamwe vanochengeta iko kugona kwehupenyu hwavo hwese, nepo vamwe vana vachirasikirwa nehunyanzvi.

Hupenyu tarisiro haina kunyatsodzidziswa, kunyangwe kupona zvirinani kusvika pakati pemakumi maviri-makumi angangoita. Ivhareji tarisiro yeupenyu yevasikana inogona kunge iri pakati pemakumi mana emakore. Rufu runowanzoenderana nekubatwa, kushushikana nemabayo, kushaya zvinovaka muviri, uye tsaona.

Fonera wako mupi wezvehutano kana iwe:

• Iva nezvose zvinonetsa pamusoro pekukura kwemwana wako
• Cherekedza kushomeka kweyakajairika kukura nemotokari kana hunyanzvi hwemutauro mumwana wako
• Funga kuti mwana wako ane dambudziko rehutano rinoda kurapwa

RTT; Scoliosis - Rett chirwere; Urema hwekuziva - Rett syndrome

Kwon JM. Neurodegenerative kusagadzikana kwehucheche. Mune: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Chinyorwa chePediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016: chits. 599.

Mink JW. Kuberekwa, kukura, uye neurocutaneous kusagadzikana. Mune: Goldman L, Schafer AI, eds. Goldman-Cecil Mushonga. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016: chitsuwa 417.