I-Williams syndrome

I-Williams syndrome yisifo esingajwayelekile esingaholela ezinkingeni ngentuthuko.

I-Williams syndrome ibangelwa ukungabi nayo ikhophi yezakhi zofuzo ezingama-25 kuya kwezingama-27 kunombolo ye-chromosome engu-7.

• Ezimweni eziningi, izinguquko zofuzo (ukuguquka kwezakhi zofuzo) zenzeka zodwa, kungaba sesidunjini noma eqandeni ingane ekhula kuyo.
• Kodwa-ke, uma umuntu ephethe ushintsho lofuzo, izingane zabo zinethuba elingama-50% lokuzuza njengefa.

Olunye ufuzo olulahlekile yisakhi esikhiqiza i-elastin. Le yiprotheni evumela ukuthi imithambo yegazi nezinye izicubu emzimbeni zoluleke. Kungenzeka ukuthi ukulahlekelwa yikhophi yalesi sakhi kuholela ekunciphiseni kwemithambo yegazi, isikhumba eselulekayo, kanye namalunga agobekayo abonakala kulesi simo.

Izimpawu ze-Williams syndrome yilezi:

• Izinkinga zokondla, kufaka phakathi i-colic, i-reflux, nokuhlanza
• Ukugoba kwangaphakathi komunwe omncane
  
• Isifuba esidakiwe
• Isifo senhliziyo noma izinkinga zemithambo yegazi
  
• Ukubambezeleka kwentuthuko, ukukhubazeka kwengqondo okuphakathi kuya kokulingene, ukuphazamiseka kokufunda
• Inkulumo ebambezelekile engaphenduka ikhono lokukhuluma eliqinile nokufunda okuqinile ngokuzwa
  
• Ukuphazamiseka kalula, ukunakekelwa kokushoda kokungasebenzi kahle (ADHD)
• Izici zobuntu ezibandakanya ukuba nobungane kakhulu, ukwethemba abantu ongabazi, ukwesaba imisindo ephezulu noma ukuthintana ngokomzimba, nokuba nentshisekelo emculweni
• Mfushane, uma kuqhathaniswa nawo wonke umndeni womuntu

Ubuso nomlomo womuntu one-Williams syndrome kungakhombisa:

• Ibhuloho lamakhala elisicaba elinamakhala amancane aphakanyisiwe
• Imiqansa emide esikhumbeni esukela emakhaleni iya endebeni engenhla
• Izindebe ezivelele ngomlomo ovulekile
• Isikhumba esihlanganisa ikona elingaphakathi leso
• Amazinyo alahlekile kancane, uqweqwe lwamazinyo olungasebenzi kahle, noma amazinyo amancane, ahlukaniswe kabanzi

Izimpawu zifaka:

• Ukuncipha kweminye imithambo yegazi
• Ukubona kude
• Izinkinga zamazinyo, njengamazinyo ahlukaniswe kabanzi
• Izinga eliphakeme le-calcium egazini elingadala ukuquleka nemisipha eqinile
• Umfutho wegazi ophezulu
• Amalunga axegayo angashintsha abe lukhuni njengoba umuntu ekhula
• Iphethini engafani nenkanyezi efana ne-iris yeso

Ukuhlolwa kwe-Williams syndrome kufaka:

• Ukuhlolwa kwengcindezi yegazi
• Ukuhlolwa kwegazi kwengcezu ye-chromosome 7 engekho (ukuhlolwa kwe-FISH)
• Ukuhlolwa komchamo negazi ngezinga le-calcium
• I-Echocardiography ihlangene ne-Doppler ultrasound
• Izinso ultrasound

Alikho ikhambi le-Williams syndrome. Gwema ukuthatha i-calcium eyengeziwe novithamini D. Yelapha i-calcium ephezulu yegazi uma kwenzeka. Ukuncipha kwesitsha segazi kungaba yinkinga enkulu yezempilo. Ukwelashwa kusekelwe ekutheni kunzima kangakanani.

Ukwelashwa ngokomzimba kuyasiza kubantu abanokuqina okuhlangene. Ukwelashwa kokuthuthuka nokukhuluma nakho kungasiza. Isibonelo, ukuba namakhono aqinile okukhuluma kungasiza ukuvala obunye ubuthakathaka. Ezinye izindlela zokwelapha zisuselwa kwizimpawu zomuntu.

Kungasiza ukuthi ukwelashwa kuqondiswe yi-geneticist onolwazi nge-Williams syndrome.

Iqembu lokusekelana lingasiza ekusekelweni ngokomoya nangokunikeza nokwamukela izeluleko ezingokoqobo. Inhlangano elandelayo inikeza imininingwane eyengeziwe mayelana ne-Williams syndrome:

I-Williams Syndrome Association - williams-syndrome.org

Iningi labantu abane-Williams syndrome:

• Yiba nokukhubazeka okuthile kwengqondo.
• Ngeke iphile isikhathi eside njengokujwayelekile ngenxa yezinkinga ezahlukahlukene zezokwelapha nezinye izinkinga ezingaba khona.
• Dinga abanakekeli besikhathi esigcwele futhi imvamisa bahlala emakhaya eqembu agadiwe.

Izinkinga zingafaka:

• I-calcium ibeka ezinso nezinye izinkinga zezinso
• Ukufa (ezimweni ezingavamile kusuka ku-anesthesia)
• Ukwehluleka kwenhliziyo ngenxa yemithambo yegazi enciphile
• Ubuhlungu esiswini

Izimpawu nezimpawu eziningi ze-Williams syndrome kungenzeka zingabonakali ngesikhathi sokuzalwa. Shayela umhlinzeki wakho wezokunakekelwa kwezempilo uma ingane yakho inezici ezifana nalezo ze-Williams syndrome. Funa ukwelulekwa ngezakhi zofuzo uma unomlando womndeni we-Williams syndrome.

Ayikho indlela eyaziwayo yokuvimbela inkinga yezofuzo ebangela i-Williams syndrome. Ukuhlolwa kokubeletha kuyatholakala emibhangqwaneni enomlando womndeni we-Williams syndrome efisa ukukhulelwa.

I-Williams-Beuren syndrome; WBS; Isifo se-Beuren; 7q11.23 ukususwa kwesifo; I-Elfin facies syndrome

• Ibhuloho elingaphansi lamakhala
• Ama-Chromosomes ne-DNA

UMorris CA. I-Williams syndrome. Ku: Pagon RA, Adam MP, Ardinger HH, et al, ama-eds. Ukubuyekezwa kweGeneReviews. Inyuvesi yaseWashington, Seattle, WA. www.ncbi.nlm.nih.gov/books/NBK1249. Kubuyekezwe ngoMashi 23, 2017. Kufinyelelwe ngoNovemba 5, 2019.

Iwebhusayithi yeReferensi yasekhaya yeNLM Genetics. I-Williams syndrome. ghr.nlm.nih.gov/condition/williams-syndrome. Kubuyekezwe uDisemba 2014. Kufinyelelwe ngoNovemba 5, 2019.