Isifo sikaRubinstein-Taybi

Isifo iRubinstein-Taybi (RTS) yisifo sofuzo. Kubandakanya izithupha nezinzwane ezibanzi, ubude obufushane, izici zobuso ezihlukile, namazinga ahlukahlukene okukhubazeka kwengqondo.

I-RTS yisimo esingajwayelekile. Ukuhlukahluka kwezakhi zofuzo I-CREBBP futhi EP300 ziyabonakala kwabanye abantu abanalesi simo.

Abanye abantu abanawo ufuzo ngokuphelele. Lokhu kujwayelekile kubantu abanezinkinga ezinzima kakhulu.

Izimo eziningi zivela ngezikhathi ezithile (azidluliswa ngemindeni). Cishe zibangelwa ukukhubazeka okusha kofuzo okwenzeka esidunjini noma kumaseli amaqanda, noma ngesikhathi sokukhulelwa.

Izimpawu zifaka:

• Ukunwetshwa kwezithupha nezinzwane ezinkulu
• Ukuqunjelwa
• Izinwele ezeqile emzimbeni (hirsutism)
• Ukukhubazeka kwenhliziyo, mhlawumbe okudinga ukuhlinzwa
• Ukukhubazeka kwengqondo
• Ukuquleka
• Isiqu esifushane esibonakalayo ngemuva kokuzalwa
• Ukuthuthuka kancane kwamakhono okuqonda
• Ukuthuthuka okuhamba kancane kwamakhono emoto okuhambisana nethoni yemisipha ephansi

Ezinye izimpawu nezimpawu zingafaka:

• Izinso ezingekho noma ezengeziwe, nezinye izinkinga zesinso noma isinye
• Ithambo elingathuthuki kahle phakathi nendawo
• Ukuhamba okungaqinile noma okuqinile
• Amehlo abheke phansi
• Izindlebe ezibekwe phansi noma izindlebe ezingalungile
• Ijwabu leso elinciphisayo (ptosis)
• Isifo senkwethu
• I-Coloboma (iphutha elise-iris yeso)
• I-Microcephaly (ikhanda elincane ngokweqile)
• Umlomo omncane, omncane noma ovaliwe onamazinyo aminyene
• Ikhala elidumile noma "elinomlomo"
• Amashiya ajiyile futhi arched anezinkophe ezinde
• Isende elingahluziwe (i-cryptorchidism), noma ezinye izinkinga zamasende

Umhlinzeki wezokunakekelwa kwempilo uzokwenza ukuhlolwa komzimba. Ukuhlolwa kwegazi nama-x-ray nakho kungenziwa.

Ukuhlolwa kofuzo kungenziwa ukuthola ukuthi ngabe izakhi zofuzo ezithintekayo kulesi sifo azikho noma ziyashintshwa.

Akukho ukwelashwa okuqondile kwe-RTS. Kodwa-ke, izindlela zokwelapha ezilandelayo zingasetshenziswa ukuphatha izinkinga ezivame ukuhlotshaniswa nalesi simo.

• Ukuhlinzwa ukulungisa amathambo ezithupha noma kuzinzwane kwesinye isikhathi kungathuthukisa ukuqonda noma ukuqeda ukungakhululeki.
• Izinhlelo zokungenelela kusenesikhathi kanye nemfundo ekhethekile ukubhekana nokukhubazeka kwentuthuko.
• Ukudluliselwa kochwepheshe bokuziphatha kanye namaqembu okusekela amalungu omndeni.
• Ukwelashwa kokukhubazeka kwenhliziyo, ukulahlekelwa ukuzwa, kanye nokungajwayelekile kwamehlo.
• Ukwelashwa kokuqunjelwa kanye ne-reflux ye-gastroesophageal (GERD).

IRubinstein-Taybi Iqembu Labazali eU.SA: www.rubinstein-taybi.com

Iningi lezingane lingafunda ukufunda ezingeni lokuqala. Iningi lezingane libambezele ukukhula kwezimoto, kepha ngokwesilinganiso, zifunda ukuhamba ngeminyaka engu-2 1/2 yobudala.

Izinkinga zincike ekutheni iyiphi ingxenye yomzimba ethintekile. Izinkinga zingafaka:

• Izinkinga zokondla ezinganeni
• Ukutheleleka okuphindaphindiwe kwezindlebe nokulahleka kokuzwa
• Izinkinga ngokuma kwenhliziyo
• Ukushaya kwenhliziyo okungavamile
• Ukuqhuma kwesikhumba

Ukuqokwa ne-geneticist kuyanconywa uma umhlinzeki ethola izimpawu ze-RTS.

Ukwelulekwa ngofuzo kuyalulekwa ngemibhangqwana enomlando womndeni walesi sifo ehlela ukukhulelwa.

Isifo seRubinstein, RTS

IBurkardt DD, uGraham JM. Usayizi womzimba ongajwayelekile nenani. Ku: Ryeritz RE, Korf BR, Grody WW, abahleli. Izimiso kanye Nokuzijwayeza kuka-Emery noRimoin we-Medical Genetics and Genomics. Umhla wesi-7. ICambridge, MA: I-Elsevier Academic Press; 2019: isahluko 4.

UNussbaum RL, McInnes RR, uWillard HF. Izakhi zofuzo ezithuthukisayo nezinkinga zokuzalwa. Ku: Nussbaum RL, McInnes RR, Willard HF, ama-eds. I-Thompson & Thompson Genetics kwezokwelapha. Umhlaka 8. IPhiladelphia, PA: Elsevier; 2016: isahluko 14.

UStevens CA.Isifo sikaRubinstein-Taybi. Ukubuyekezwa kwe-Gene. 2014; 8. I-PMID: 20301699 www.ncbi.nlm.nih.gov/pubmed/20301699. Kubuyekezwe u-Agasti 7, 2014. Kufinyelelwe ngoJulayi 30, 2019.