Isifo se-Fragile X

I-Fragile X syndrome yimeko yemfuza ebandakanya utshintsho kwinxalenye ye-X chromosome. Yeyona ndlela ixhaphakileyo yokukhubazeka kwengqondo ngokwamakhwenkwe.

Isifo se-Fragile X sibangelwa lutshintsho kwimfuza ebizwa ngokuba I-FMR1. Inxalenye encinci yekhowudi yemfuza iphindaphindwe amatyeli amaninzi kwindawo enye ye-X chromosome. Ukuphindaphinda ngakumbi, imeko iya kwenzeka.

Inkqubo ye- I-FMR1 Imfuza yenza iprotein efunekayo ukuze ingqondo yakho isebenze kakuhle. Isiphene kwimfuza senza ukuba umzimba wakho uvelise iprotein encinci, okanye ungabikho kwaphela.

Amakhwenkwe namantombazana banokuchaphazeleka bobabini, kodwa ngenxa yokuba amakhwenkwe ene-X enye kuphela ye-chromosome, ukwanda okukodwa oku-ethe-ethe kunokuba nako ukubachaphazela ngokuqatha. Unokuba nesifo esiethe-ethe X nokuba abazali bakho abanaso.

Imbali yosapho yesifo esibuthathaka X, iingxaki zophuhliso, okanye ukukhubazeka kwengqondo kusenokungabikho.

Iingxaki zokuziphatha ezinxulunyaniswa nobuthathaka X syndrome zibandakanya:

• Ingxaki yesifo sengqondo
• Ukulibaziseka xa ukhasa, ukuhamba, okanye ukujija
• Ukubetha ngesandla okanye ukuluma ngesandla
• Ukuziphatha okunganyanzelekanga okanye okungxamisekileyo
• Ukukhubazeka kwengqondo
• Intetho kunye nokulibaziseka kolwimi
• Utyekelo lokuphepha ukudibana kwamehlo

Iimpawu ezibonakalayo zinokubandakanya:

• Iinyawo ezisicaba
• Amalungu aguqukayo kunye nethoni yemisipha ephantsi
• Ubungakanani obukhulu bomzimba
• Ibunzi elikhulu okanye iindlebe ezinomhlathi obalaseleyo
• Ubuso obude
• Ulusu oluthambileyo

Ezinye zezi ngxaki zikhona xa kuzalwa, ngelixa ezinye zisenokungakhuli de kube semva kokufikisa.

Amalungu osapho aneempinda ezimbalwa kwifayile ye- I-FMR1 Uhlobo lwesini alunakukhubazeka ngokwengqondo. Abasetyhini banokuba nokuyeka ukuya exesheni ngaphambi kwexesha okanye ubunzima bokukhulelwa. Bobabini abesilisa nabasetyhini banokuba neengxaki zokuthuthumela kunye nokulungelelanisa okungahambi kakuhle.

Zimbalwa kakhulu iimpawu zangaphandle ezibuthathaka X syndrome ebantwaneni. Ezinye izinto umboneleli wezempilo anokuzijonga zibandakanya:

• Isangqa esikhulu seentloko kwiintsana
• Ukukhubazeka kwengqondo
• Amatyhalarha amakhulu emva kokufikisa
• Umahluko ochuliweyo weempawu zobuso

Kwabasetyhini, ukuba neentloni kakhulu kunokuba kuphela komqondiso wokuphazamiseka.

Ukuvavanywa kwemfuza kungasichonga esi sifo.

Akukho lonyango luthile lwe-X syndrome. Endaweni yokuba uqeqesho kunye nemfundo iphuhlisiwe ukunceda abantwana abachaphazelekayo basebenze kwelona nqanaba liphezulu. Uvavanyo lweklinikhi luyaqhubeka (www.clinicaltrials.gov/) kwaye ujonge amayeza amaninzi anokubakho kunyango lwe-X syndrome.

Isiseko seSizwe seFragile X: fragilex.org/

Ukusebenza kakuhle komntu kuxhomekeke kwinani lokukhubazeka kwengqondo.

Iingxaki ziyahluka, kuxhomekeka kuhlobo kunye nobukhali beempawu. Banokubandakanya:

• Izifo ezenzeka rhoqo ezindlebeni ebantwaneni
• Ukuphazamiseka kwengqondo

Isifo i-Fragile X sinokuba sesona sizathu se-autism okanye ukuphazamiseka okunxulumene noko, nangona ingengabo bonke abantwana abane-X syndrome ebuthathaka abanezi meko.

Ukucebisa ngemfuza kunokuba luncedo ukuba unembali yosapho kwesi sifo kwaye uceba ukukhulelwa.

Isifo seMartin-Bell; Isifo seMarker X

UMzingeli JE, uBerry-Kravis E, uHipp H, uTodd PK. I-FMR1 ukuphazamiseka. Uphononongo lweGene. Ngo-2012: 4. IINKCUKACHA: I-20301558 pubmed.ncbi.nlm.nih.gov/20301558/. Ukuhlaziywa ngoNovemba 21, 2019.

UKumar V, u-Abbas AK, uAster JC. Izifo zemvelo kunye nezifo zabantwana. Ku: Kumar V, Abbas AK, Aster JC, ii-eds. Robbins yePathology esisiseko. Ngomhla we-10. IPhiladelphia, PA: Elsevier; I-2018: isahluko 7.

UMadan-Khetarpal S, uArnold G.Ukuphazamiseka kwemfuza kunye neemeko zedysmorphic. Ku: Zitelli BJ, McIntire SC, Nowalk AJ, ii-eds. UZitelli no-Davis ’Atlas of Pediatric Physical Diagnosis. Umhla wesi-7. IPhiladelphia, PA: Elsevier; I-2018: isahluko 1.