Rubinstein-Taybi chirwere

Rubinstein-Taybi syndrome (RTS) chirwere chemajini. Inosanganisira zvigunwe zvakakura nezvigunwe, chimiro chipfupi, chimiro chakasarudzika, uye nematanho akasiyana ehurema hwepfungwa.

RTS chinhu chisingawanzoitika. Kusiyana kwemajini CHIKAMU uye EP300 inoonekwa kune vamwe vanhu vane chirwere ichi.

Vamwe vanhu vari kushaya geni zvachose. Izvi zvinowanzoitika kune vanhu vane matambudziko akanyanya.

Mazhinji kesi anowanzoitika (asina kupfuudzwa kuburikidza nemhuri). Izvo zvinogona kunge zvakakonzerwa nehutachiona hutsva hunowanikwa mungava muhurume kana mazai emazai, kana panguva yekubata.

Zviratidzo zvinosanganisira:

• Kutambanudza kwechigunwe uye zvigunwe zvikuru
• Kuzvimbirwa
• Bvudzi rakawandisa pamuviri (hirsutism)
• Kukanganisa kwemoyo, pamwe kunoda kuvhiyiwa
• Urema hwekuziva
• Kufenda
• Chimiro chipfupi chinoonekwa mushure mekuzvara
• Inononoka kukura kwehunyanzvi hwekuziva
• Inononoka kukura kwehunyanzvi hwemotokari inofambidzana neyepasi mhasuru toni

Zvimwe zviratidzo nezviratidzo zvinogona kusanganisira:

• Itsvo isipo kana yekuwedzera, uye mamwe matambudziko neitsvo kana dundira
• Pfupa risingakudzwe mukati mekati
• Kusadzikama kana kuomarara kwekufamba kufamba
• Kumeso-akatsvedza maziso
• Nzeve-dzakadzika-nzeve kana nzeve dzisina kusimba
• Kudonhedza eyelid (ptosis)
• Kurwara
• Coloboma (kukanganisa mune iris yeziso)
• Microcephaly (yakanyanya kudiki musoro)
• Yakapinza, diki, kana yakadzoserwa muromo nemazino akazara
• Yakakurumbira kana "yakarohwa" mhino
• Akakora uye arched tsiye ane marefu eyelashes
• Undescended testicle (cryptorchidism), kana mamwe matambudziko echipupuriro

Anopa hutano anoita bvunzo dzepanyama. Kuongororwa kweropa uye x-ray kunogonawo kuitwa.

Genetic bvunzo dzinogona kuitwa kuti uone kana magene akabatanidzwa muchirwere ichi asipo kana kushandurwa.

Iko hakuna chaiyo kurapwa kweRTS. Zvisinei, mishonga inotevera inogona kushandiswa kugadzirisa matambudziko anowanzobatanidzwa nemamiriro acho.

• Kuvhiya kugadzirisa mapfupa mune zvigumwe kana zvigunwe dzimwe nguva kunogonesa kubata kana kubvisa kusagadzikana.
• Mapurogiramu ekutanga ekupindira uye dzidzo yakakosha kugadzirisa hurema hwekuvandudza.
• Kutumira kune vane hunhu nyanzvi uye mapoka ekutsigira enhengo dzemhuri.
• Kurapwa kwekuremara kwemoyo, kurasikirwa kwekunzwa, uye kusagadzikana kweziso.
• Kurapa kwekubatira uye gastroesophageal reflux (GERD).

Rubinstein-Taybi Vabereki Boka USA: www.rubinstein-taybi.com

Ruzhinji rwevana vanogona kudzidza kuverenga padanho repuraimari. Ruzhinji rwevana rwakanonoka kusimudzira mota, asi paavhareji, vanodzidza kufamba nemakore 2 1/2 ezera.

Matambudziko anoenderana nechikamu chemuviri chinokanganiswa. Zvinetso zvinogona kusanganisira:

• Matambudziko ekudyisa muvacheche
• Kudzokorora hutachiona hutachiona uye kurasikirwa kwekunzwa
• Matambudziko nechimiro chemoyo
• Kusarongeka kwemoyo
• Kupararira kweganda

Kusangana neye geneticist inokurudzirwa kana mupi achiwana zviratidzo zveRTS.

Genetic counselling inokurudzirwa kune vakaroorana vane nhoroondo yemhuri yechirwere ichi vari kuronga kubata nhumbu.

Rubinstein chirwere, RTS

Burkardt DD, Graham JM. Saizi yemuviri saizi uye chiyero. Mune: Ryeritz RE, Korf BR, Grody WW, eds. Misimboti yaEmery naRimoin uye Maitiro Ekurapa Genetics uye Genomics. 7th ed. Cambridge, MA: Elsevier Dzidzo Press; 2019: chits.

Nussbaum RL, McInnes RR, Willard HF. Kuvandudza genetics uye kuremara kwekuzvarwa. Mune: Nussbaum RL, McInnes RR, Willard HF, eds. Thompson & Thompson Genetics muMushonga. 8th ed. Philadelphia, PA: Elsevier; 2016: chitsiko 14.

Stevens CA.Rubinstein-Taybi chirwere. Gene Ongororo. 2014; 8. PMID: 20301699 www.ncbi.nlm.nih.gov/pubmed/20301699. Yakagadziridzwa Nyamavhuvhu 7, 2014. Yakasvika muna Chikunguru 30, 2019.