Matenda a Rubinstein-Taybi

Matenda a Rubinstein-Taybi (RTS) ndi matenda amtundu. Zimakhudza zala zazikulu m'manja ndi m'mapazi, m'fupi msinkhu, mawonekedwe osiyana pankhope, ndi kulumala kwa nzeru mosiyanasiyana.

RTS ndi yachilendo. Kusiyanasiyana kwa majini CHILENGEDWE ndipo EP300 amawoneka mwa anthu ena omwe ali ndi vutoli.

Anthu ena akusowa jini kwathunthu. Izi ndizofala kwambiri kwa anthu omwe ali ndi mavuto owopsa.

Nthawi zambiri zimachitika mwakamodzikamodzi (osadutsa m'mabanja). Zitha kutero chifukwa cha chilema chatsopano chomwe chimapezeka mu umuna kapena ma cell a dzira, kapena panthawi yobereka.

Zizindikiro zake ndi izi:

• Kukulitsa zala zazikulu za m'manja ndi zala zazikulu za kumapazi
• Kudzimbidwa
• Tsitsi lowonjezera pa thupi (hirsutism)
• Zofooka za mtima, mwina zomwe zimafuna kuchitidwa opaleshoni
• Kulemala kwamaluso
• Kugwidwa
• Msinkhu waufupi womwe umawonekera pambuyo pobadwa
• Kukula pang'onopang'ono kwa luso lazidziwitso
• Kukula pang'onopang'ono kwa luso lamagalimoto limodzi ndi kuchepa kwa minofu

Zizindikiro zina zimatha kuphatikiza:

• Kupsa kapena impso zowonjezera, ndi mavuto ena a impso kapena chikhodzodzo
• Fupa losakhazikika pakatikati
• Kuyenda kosakhazikika kapena kolimba
• Maso otsetsereka
• Makutu otsika kapena makutu opunduka
• Kutulutsa chikope (ptosis)
• Kupunduka
• Coloboma (chilema m'diso la diso)
• Microcephaly (mutu wocheperako)
• Pakamwa pang'onong'ono, kakang'ono, kapena kotseguka ndi mano odzaza
• Mphuno yotchuka kapena "yamlomo"
• Wokongola ndi arched nsidze ndi nsidze yaitali
• Tambala losasunthika (cryptorchidism), kapena mavuto ena a testicular

Wothandizira zaumoyo adzayesa. Mayeso amwazi ndi ma x-ray amathanso kuchitidwa.

Kuyesedwa kwa majini kumatha kuchitidwa kuti mudziwe ngati majini omwe akhudzidwa ndi matendawa akusowa kapena asinthidwa.

Palibe mankhwala enieni a RTS. Komabe, mankhwalawa atha kugwiritsidwa ntchito kuthana ndi mavuto omwe amapezeka ndi vutoli.

• Kuchita opaleshoni yokonzanso mafupa m'zala zazikuluzikulu kapena kumapazi nthawi zina kumatha kumvetsetsa kapena kuthetsa mavuto.
• Mapulogalamu othandizira msanga komanso maphunziro apadera kuti athane ndi zolemala.
• Kutumiza kwa akatswiri azikhalidwe ndi magulu othandizira am'banja.
• Chithandizo chazovuta za mtima, kutaya khutu, ndi zovuta zamaso.
• Chithandizo cha kudzimbidwa ndi gastroesophageal reflux (GERD).

Gulu la Makolo a Rubinstein-Taybi USA: www.rubinstein-taybi.com

Ambiri mwa ana amatha kuphunzira kuwerenga ali a pulayimale. Ana ambiri achedwetsa kukula kwamagalimoto, koma pafupifupi, amaphunzira kuyenda azaka 2 1/2 zakubadwa.

Zovuta zimadalira gawo liti la thupi lomwe lakhudzidwa. Zovuta zingaphatikizepo:

• Kudyetsa mavuto mwa makanda
• Matenda obwerezabwereza m'makutu ndikumva kwakumva
• Mavuto ndi mawonekedwe amtima
• Kugunda kwamtima kosazolowereka
• Kutupa kwa khungu

Nthawi yokumana ndi katswiri wodziwa za majini ikulimbikitsidwa ngati wopezayo apeza zizindikiro za RTS.

Upangiri wamtunduwu umalangizidwa kwa mabanja omwe ali ndi mbiri yakubadwa ya matendawa omwe akukonzekera kukhala ndi pakati.

Matenda a Rubinstein, RTS

(Adasankhidwa) Burkardt DD, Graham JM. Kukula kwakukulu kwa thupi ndi kuchuluka kwake. Mu: Ryeritz RE, Korf BR, Grody WW, olemba., Eds. Mfundo za Emery ndi Rimoin ndi machitidwe a Medical Genetics and Genomics. Wachisanu ndi chiwiri. Cambridge, MA: Atolankhani a Elsevier Academic; 2019: chaputala 4.

Nussbaum RL, McInnes RR, Willard HF (Adasankhidwa) Kukula kwa majini ndi zilema zobereka. Mu: Nussbaum RL, McInnes RR, Willard HF, olemba. Thompson & Thompson Genetics mu Mankhwala. 8th ed. Philadelphia, PA: Elsevier; 2016: chap 14.

Stevens CA.Matenda a Rubinstein-Taybi. Ndemanga za Gene. 2014; 8. PMID: 20301699 www.ncbi.nlm.nih.gov/pubmed/20301699. (Adasankhidwa) Idasinthidwa pa Ogasiti 7, 2014. Idapezeka pa Julayi 30, 2019.