Rubinstein-Taybi ciwo

Rubinstein-Taybi ciwo (RTS) cuta ce ta kwayoyin halitta. Ya haɗa da manyan yatsu da yatsu, gajere, siffofi na fuskoki daban-daban, da nau'ikan ilimin nakasa.

RTS yanayi ne mai wuya. Bambanci a cikin kwayoyin halitta CREBBP kuma EP300 ana ganin wasu mutane masu wannan yanayin.

Wasu mutane sun rasa asalinsu gaba ɗaya. Wannan ya fi dacewa ga mutanen da ke da matsaloli masu tsanani.

Yawancin lokuta bazuwar lokaci ne (ba a wucewa ta cikin dangi). Mai yiwuwa ne saboda sabon lahani na kwayar halitta da ke faruwa ko dai a cikin maniyyi ko kwayayen ƙwai, ko kuma a lokacin ɗaukar ciki.

Kwayar cutar sun hada da:

• Fadada manyan yatsu da manyan yatsun kafa
• Maƙarƙashiya
• Yawan gashi a jiki (hirsutism)
• Launin zuciya, mai yiwuwa yana buƙatar tiyata
• Rashin hankali
• Kamawa
• Gajere wanda yake sananne bayan haihuwa
• Sannu a hankali na ƙwarewar fahimi
• Raunin jinkirin haɓaka ƙirar mota tare da ƙananan ƙwayar tsoka

Sauran alamu da alamomi na iya haɗawa da:

• Rashin rashi ko karin koda, da sauran matsalolin koda ko mafitsara
• Kashi mara ci gaba a cikin tsaka-tsaka
• Rashin ƙarfi ko tafiya mai kauri
• Idanun kasa-kasa
• -Ananan saitin kunnuwa ko kunnuwa mara kyau
• Faduwa fatar ido (ptosis)
• Ciwon ido
• Coloboma (nakasa ne a cikin idodn ido)
• Microcephaly (ƙananan ƙananan kai)
• Arami, ƙarami, ko mara nauyi da hakora cike
• Mashahuri ko "beaked" hanci
• Gira mai tsayi da arched tare da gashin ido mai tsayi
• Testwararren ƙwararren ƙwararru (cryptorchidism), ko wasu matsalolin ƙwararru

Mai ba da sabis na kiwon lafiya zai yi gwajin jiki. Hakanan za'a iya yin gwajin jini da kuma x-ray.

Ana iya yin gwajin kwayar halitta don sanin ko kwayoyin halittar da ke cikin wannan cutar sun ɓace ko sun canza.

Babu takamaiman magani don RTS. Koyaya, ana iya amfani da waɗannan jiyya masu zuwa don sarrafa matsalolin da ke tattare da yanayin.

• Yin aikin tiyata don gyara ƙasusuwan babban yatsu ko yatsun kafa wani lokaci na iya inganta fahimta ko sauƙaƙa damuwa.
• Shirye-shiryen shiga tsakani da ilimi na musamman don magance nakasawar ci gaba.
• Komawa ga kwararrun halayya da kungiyoyin tallafi ga yan uwa.
• Maganin likita don lahani na zuciya, rashin ji, da rashin lafiyar ido.
• Jiyya don maƙarƙashiya da ƙoshin ciki (GERD).

Rubinstein-Taybi Kungiyar Iyaye ta Amurka: www.rubinstein-taybi.com

Yawancin yara na iya koyon karatu a matakin farko. Yawancin yara sun jinkirta haɓakar mota, amma a matsakaita, suna koyon tafiya da shekara 2 1/2 da haihuwa.

Matsalolin sun dogara ne da wane bangare na jiki ya shafa. Matsaloli na iya haɗawa da:

• Matsalolin ciyar da jarirai
• Maimaita cututtukan kunne da rashin jin magana
• Matsaloli tare da sifar zuciya
• Bugun zuciya mara kyau
• Satar fata

Alkawari tare da masanin kimiyyar halittu ana ba da shawarar idan mai samarwa ya sami alamun RTS.

Ana ba da shawara game da kwayar halitta don ma'aurata da ke da tarihin wannan cuta waɗanda ke shirin ɗaukar ciki.

Rubinstein ciwo, RTS

Burkardt DD, Graham JM. Girman jikin da ba daidai ba da gwargwado. A cikin: Ryeritz RE, Korf BR, Grody WW, eds. Ka'idodin Emery da Rimoin da Aiwatar da Kwayoyin Halitta na Jini da Tsarin Halitta. 7th ed. Cambridge, MA: Elsevier Makarantar Ilimin; 2019: sura 4.

Nussbaum RL, McInnes RR, Willard HF. Halittar halittar ci gaba da lahani na haihuwa. A cikin: Nussbaum RL, McInnes RR, Willard HF, eds. Thompson & Thompson Genetics a Magunguna. 8th ed. Philadelphia, PA: Elsevier; 2016: babi na 14.

Stevens CA. Rubinstein-Taybi ciwo. Ra'ayoyin Gene. 2014; 8. PMID: 20301699 www.ncbi.nlm.nih.gov/pubmed/20301699. An sabunta Agusta 7, 2014. An shiga Yuli 30, 2019.