Lefu la Rubinstein-Taybi

Lefu la Rubinstein-Taybi (RTS) ke lefu la lefutso. E kenyelletsa menoana e metona ea matsoho le ea maoto, seemo se sekhuts'oane, litšobotsi tsa sefahleho tse ikhethileng, le maemo a fapaneng a bokooa ba kelello.

RTS ke boemo bo sa tloaelehang. Liphetoho liphatseng tsa lefutso TLHOKOMELO le EP300 li bonoa ho batho ba bang ba nang le boemo bona.

Batho ba bang ba haelloa ke lefutso ka botlalo. Sena se tloaelehile ho batho ba nang le mathata a tebileng.

Maemong a mangata ke a nakoana (ha a fetisoe ke malapa). Mohlomong li bakoa ke bofokoli bo bocha ba liphatsa tsa lefutso bo hlahang ka har'a peo ea monna kapa ea lehe, kapa nakong ea kemolo.

Matšoao a kenyelletsa:

• Ho pharalatsa menoana e metona ea maoto le maoto
• Ho sokela
• Moriri o feteletseng 'meleng (hirsutism)
• Mathata a pelo, mohlomong a hlokang ho buuoa
• Bokooa ba kelello
• Ho oa
• Nako e khuts'oane e hlokomelehang kamora ho hlaha
• Nts'etsopele e liehang ea boiphihlelo ba kutloisiso
• Nts'etsopele e liehang ea tsebo ea makoloi e tsamaeang le molumo o tlase oa mesifa

Matšoao a mang a kenyeletsa:

• Liphio tse seng teng kapa tse eketsehileng, le mathata a mang a nang le liphio kapa senya
• Lesapo le sa tsoelang pele bohareng ba sebaka
• Tsela e sa tsitsang kapa e thata ea ho tsamaea
• Mahlo a thellisitsoeng tlase
• Litsebe tse sa utloeng hantle kapa litsebe tse sa sebetseng hantle
• Letlalo le thellisang (ptosis)
• Likotsi
• Coloboma (sekoli se iris ea leihlo)
• Microcephaly (hlooho e nyane haholo)
• Molomo o mosesane, o monyane kapa o koetsoeng ka meno a petetsaneng
• Nko e tummeng kapa "molomo"
• Lintsu tse teteaneng le tse arched ka li-eyelashes tse telele
• Lekhala le sa lekanyetsoang (cryptorchidism), kapa mathata a mang a testicular

Mofani oa tlhokomelo ea bophelo o tla etsa tlhahlobo ea 'mele. Liteko tsa mali le x-ray le tsona li ka etsoa.

Ho ka etsoa liteko tsa lefutso ho fumana hore na liphatsa tsa lefutso tse amehang lefung lena li haella kapa ha li fetoloe.

Ha ho na kalafo e khethehileng bakeng sa RTS. Leha ho le joalo, litlhare tse latelang li ka sebelisoa ho sebetsana le mathata ao hangata a amanang le boemo bona.

• Phekolo ea ho lokisa masapo ka menoana e metona kapa ea maoto e ka ntlafatsa kutloisiso kapa ea kokobetsa bohloko.
• Mananeo a ho kenella kapele le thuto e khethehileng ho sebetsana le bokooa ba kholo.
• Ho fetisetsoa ho litsebi tsa boits'oaro le lihlopha tsa ts'ehetso bakeng sa litho tsa lelapa.
• Kalafo ea bofokoli ba pelo, ho se utloe litsebeng le mahlo a sa tloaelehang.
• Kalafo ea ho patoa le reflux ea gastroesophageal (GERD).

Sehlopha sa Batsoali sa Rubinstein-Taybi USA: www.rubinstein-taybi.com

Boholo ba bana ba ka ithuta ho bala boemong ba mathomo. Bongata ba bana bo liehisitse kholo ea makoloi, empa ka karolelano ba ithuta ho tsamaea ka lilemo tse 2 1/2.

Mathata a ipapisitse le karolo efe ea 'mele e amehang. Mathata a ka kenyelletsa:

• Mathata a ho fepa masea
• Ho pheta-pheta tšoaetso ea tsebe le tahlehelo ea kutlo
• Mathata ka sebopeho sa pelo
• Ho otla ha pelo ho sa tloaelehang
• Ho phatloha hoa letlalo

Kopano le setsebi sa lefutso ea khothaletsoa haeba mofani a fumana matšoao a RTS.

Tlhabollo ea lefutso e eletsoa banyalani ba nang le nalane ea malapa ea lefu lena ba rerileng ho ima.

Lefu la Rubinstein, RTS

Dk oa Burkardt, Graham JM. Boholo ba mmele le boholo. Ka: Ryeritz RE, Korf BR, Grody WW, bangoli. Melao-motheo ea Emery le Rimoin le Tloaelo ea Bongaka ba Liphatsa tsa lefutso le Genomics. La 7th. Cambridge, MA: Khatiso ea Boithuto ea Elsevier; 2019: khaolo ea 4.

Nussbaum RL, McInnes RR, Willard HF. Tsoelo-pele ea liphatsa tsa lefutso le bokooa ba tsoalo. Ka: Nussbaum RL, McInnes RR, Willard HF, bahlophisi. Thompson & Thompson liphatsa tsa lefutso tsa bongaka. La 8th. Philadelphia, PA: Elsevier; 2016: khaolo ea 14.

Stevens CA.Lefu la Rubinstein-Taybi. Litlhahlobo tsa Gene. 2014; 8. PMID: 20301699 www.ncbi.nlm.nih.gov/pubmed/20301699. E ntlafalitsoe ka Phato 7, 2014. E fihlile ka la 30 Phupu, 2019.