Isifo se-Fragile X

I-Fragile X syndrome yisimo sezakhi zofuzo ezibandakanya ushintsho engxenyeni ye-X chromosome. Kuyindlela ejwayelekile kakhulu yokukhubazeka kwengqondo kwabafana.

Isifo i-Fragile X syndrome sidalwa ukushintsha kofuzo olubizwa ngokuthi I-FMR1. Ingxenye encane yekhodi yofuzo iphindaphindwa izikhathi eziningana endaweni eyodwa ye-X chromosome. Ukuphindaphinda okuningi, isimo sizokwenzeka kakhulu.

I- I-FMR1 I-gene yenza iprotheni edingekayo ukuze ubuchopho bakho busebenze kahle. Ukukhubazeka kofuzo kwenza umzimba wakho ukhiqize amaprotheni amancane kakhulu, noma ungawakhi nhlobo.

Abafana namantombazane bangathinteka bobabili, kepha ngenxa yokuthi abafana bane-X chromosome eyodwa vo, ukwanda okukodwa okuntekenteke kuka-X kungenzeka kubathinte kakhulu. Ungaba ne-X syndrome entekenteke ngisho noma abazali bakho bengenayo.

Umlando womndeni we-X syndrome obuthakathaka, izinkinga zokukhula, noma ukukhubazeka kwengqondo kungenzeka kungabi khona.

Izinkinga zokuziphatha ezihlotshaniswa ne-X syndrome entekenteke zifaka:

• Ukuphazamiseka kwe-Autism spectrum
• Ukubambezeleka kokukhasa, ukuhamba, noma ukusonteka
• Ukubamba ngesandla noma ukuluma ngesandla
• Ukuziphatha ngokweqile noma ngokuxhamazela
• Ukukhubazeka kwengqondo
• Ukubambezeleka kwenkulumo nolimi
• Ukuthambekela kokugwema ukuthintana kwamehlo

Izimpawu zomzimba zingabandakanya:

• Izinyawo eziphansi
• Amalunga agobekayo nezwi eliphansi lemisipha
• Usayizi omkhulu womzimba
• Isiphongo noma izindlebe ezinkulu ezinomhlathi ovelele
• Ubuso obude
• Isikhumba esithambile

Ezinye zalezi zinkinga zikhona lapho kuzalwa, kanti ezinye zingase zingakhuli kuze kube ngemuva kokuthomba.

Amalungu omndeni anezimpinda ezimbalwa kufayela le- I-FMR1 isakhi sofuzo kungenzeka singakhubazeki ngokwengqondo. Abesifazane bangaba nokunqamuka kokuya esikhathini ngaphambi kwesikhathi noma babe nobunzima bokukhulelwa. Kokubili abesilisa nabesifazane bangaba nezinkinga ngokuthuthumela nokuxhumana okungalungile.

Kunezimpawu ezimbalwa kakhulu zangaphandle zesifo esintekenteke se-X ezinganeni. Ezinye izinto umhlinzeki wezokunakekelwa kwempilo angazibheka zifaka:

• Umjikelezo omkhulu wekhanda ezinganeni
• Ukukhubazeka kwengqondo
• Amasende amakhulu ngemuva kokuqala kokuthomba
• Umehluko ocashile ezicini zobuso

Kwabesifazane, ukuba namahloni ngokweqile kungaba uphawu kuphela lwesifo.

Ukuhlolwa kofuzo kungathola ukuthi unalesi sifo.

Akukho ukwelashwa okuqondile kwesifo esibuthaka se-X. Esikhundleni salokho, ukuqeqeshwa nemfundo sekwenziwe ukusiza izingane ezithintekayo ukuthi zisebenze ezingeni eliphezulu kakhulu. Ukuhlolwa komtholampilo kuyaqhubeka (www.clinicaltrials.gov/) futhi kubhekwe imishanguzo eminingi yokwelapha i-X syndrome entekenteke.

Isisekelo seNational Fragile X: fragilex.org/

Ukwenza kahle komuntu kuncike enanini lokukhubazeka kwengqondo.

Izinkinga ziyahlukahluka, kuya ngohlobo nobukhulu bezimpawu. Zingafaka:

• Ukutheleleka okuvamile kwendlebe ezinganeni
• Ukuphazamiseka kwengqondo

I-Fragile X syndrome ingaba imbangela ye-autism noma ukuphazamiseka okuhlobene nayo, noma kungezona zonke izingane ezine-X syndrome ethambile ezinalezi zimo.

Ukwelulekwa ngofuzo kungasiza uma unomlando womndeni walesi sifo futhi uhlela ukukhulelwa.

Isifo seMartin-Bell; Isifo seMarker X

Hunter JE, Berry-Kravis E, Hipp H, Todd PK. I-FMR1 iziyaluyalu. Ukubuyekezwa kweGeneReviews. 2012: 4. I-PMID: 20301558 pubmed.ncbi.nlm.nih.gov/20301558/. Kubuyekezwe ngoNovemba 21, 2019.

UKumar V, Abbas AK, Aster JC. Izifo zofuzo nezengane. Ku: Kumar V, Abbas AK, Aster JC, ama-eds. I-Robbins Basic Pathology. Umhlaka 10. IPhiladelphia, PA: Elsevier; 2018: isahluko 7.

IMadan-Khetarpal S, i-Arnold G.Izinkinga zofuzo nezimo ze-dysmorphic. Ku: Zitelli BJ, McIntire SC, Nowalk AJ, ama-eds. UZitelli noDavis ’Atlas of Pediatric Physical Diagnosis. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2018: isahluko 1.