Isifo sikaWilliams

I-Williams syndrome sisifo esinqabileyo esingakhokelela kwiingxaki zophuhliso.

I-Williams syndrome ibangelwa kukungabinayo ikopi yama-25 ukuya kuma-27 yemfuza kwi-chromosome number 7.

• Kwiimeko ezininzi, utshintsho lwemfuza (uguquko) lwenzeka ngokwalo, nokuba kukwidoda okanye iqanda umntwana avele kulo.
• Nangona kunjalo, nje ukuba umntu aphathe utshintsho lwemfuza, abantwana babo banethuba le-50% lokulifumana.

Enye yemfuza engekhoyo ngumfuzo ovelisa i-elastin. Le yiprotein evumela imithambo yegazi kunye nezinye izicwili emzimbeni ukuba zolule. Kungenzeka ukuba ukulahleka ikopi yolu hlobo kubangela ukunciphisa imithana yegazi, ulusu olulayo, kunye namajoyina aguquguqukayo abonwe kule meko.

Iimpawu ze-Williams syndrome zezi:

• Iingxaki zokondla, kubandakanya i-colic, i-reflux kunye nokugabha
• Ukugoba okungaphakathi komnwe omncinci
  
• Isifuba esidakileyo
• Isifo sentliziyo okanye ingxaki yemithambo yegazi
  
• Ukulibaziseka kophuhliso, ukukhubazeka kwengqondo okuphakathi ukuya kokuphakathi, ukuphazamiseka kokufunda
• Ukuthetha okulibazisekileyo okunokuthi kamva kujike kubuchule bokuthetha obunamandla kunye nemfundo eyomeleleyo ngokuva
  
• Ukuphazamiseka ngokulula, ukunqongophala kwengqondo yokuphazamiseka (ADHD)
• Iimpawu zobuntu kubandakanya ukuba nobuhlobo kakhulu, ukuthembela kubantu ongabaziyo, ukoyika izandi ezingxolayo okanye ukunxibelelana nomzimba, kunye nokuba nomdla kumculo
• Mfutshane, xa kuthelekiswa nolunye usapho lomntu

Ubuso kunye nomlomo womntu one-Williams syndrome unokubonisa:

• Ibhulorho yempumlo ethe nkqo kunye nempumlo encinci evuselelweyo
• Iindonga ezinde kulusu oluqala empumlweni luye kumlomo ongasentla
• Imilebe ephambili enomlomo ovulekileyo
• Ulusu olugquma ikona yangaphakathi yamehlo
• Amazinyo alahlekileyo ngokuyinxenye, i-enamel yamazinyo enesiphene, okanye amazinyo amancinci, abanzi ngokubanzi

Iimpawu zibandakanya:

• Ukunciphisa eminye imithambo yegazi
• Ukubona kude
• Iingxaki zamazinyo, ezinjengamazinyo ahlukaniswe kakhulu
• Inqanaba le-calcium ephezulu yegazi enokubangela ukuxhuzula kunye nezihlunu eziqinileyo
• Igazi elonyukayo
• Ukudibanisa amalungu anokutshintsha ukuqina njengoko umntu esiya esiba mdala
• Ipateni engaqhelekanga efana neenkwenkwezi kwi-iris yamehlo

Uvavanyo lwe-Williams syndrome lubandakanya:

• Uxinzelelo lwegazi
• Uvavanyo lwegazi ngesiqwenga esilahlekileyo se-chromosome 7 (uvavanyo lwe-FISH)
• Uvavanyo lomchamo kunye negazi kwinqanaba le-calcium
• I-Echocardiography edityaniswe neDoppler ultrasound
• Isifo sezintso

Akukho lunyango lwesifo sikaWilliams. Kunqande ukuthatha ikhalsiyam eyongezelelekileyo kunye novithamini D. Nyanga ikhalsiyam ephezulu yegazi ukuba kuyenzeka. Ukuncipha kwenqanawa yegazi kunokuba yingxaki enkulu yezempilo. Unyango lusekwe kwindlela olunzima ngayo.

Unyango lomzimba luluncedo kubantu abomelele ngokudibeneyo. Uphuhliso kunye nonyango lokuthetha lunokunceda. Umzekelo, ukuba nezakhono zomlomo ezinamandla kunokunceda ukwenza obunye ubuthathaka. Olunye unyango lusekwe kwiimpawu zomntu.

Inokukunceda ukuba unyango luququzelelwe ngumfuzo onamava ngesifo sikaWilliams.

Iqela lenkxaso linokuba luncedo kwinkxaso yeemvakalelo nasekuboneleleni nasekufumaneni iingcebiso ezifanelekileyo. Umbutho olandelayo ubonelela ngolwazi olongezelelekileyo malunga nesifo sikaWilliams:

Umbutho kaWilliam Syndrome- williams-syndrome.org

Uninzi lwabantu abane-Williams syndrome:

• Unokukhubazeka kwengqondo.
• Awuyi kuphila ixesha elide njengesiqhelo ngenxa yemicimbi eyahlukeneyo yezonyango kunye nezinye iingxaki ezinokubakho.
• Ifuna abanonopheli bexesha elizeleyo kwaye bahlala bahlala kumakhaya eqela abekwe esweni.

Iingxaki zinokubandakanya:

• Ukufakwa kweCalcium kwizintso kunye nezinye iingxaki zezintso
• Ukufa (kwiimeko ezinqabileyo ezivela kwi-anesthesia)
• Ukusilela kwentliziyo ngenxa yemithambo yegazi emxinwa
• Intlungu esiswini

Uninzi lweempawu kunye neempawu zesifo sikaWilliams zinokungabonakali ekuzalweni. Fowunela umboneleli wakho wokhathalelo lwempilo ukuba umntwana wakho uneempawu ezifanayo nezo zika-Williams syndrome. Funa iingcebiso ngemfuzo ukuba unembali yosapho yeWilliam syndrome.

Akukho ndlela yaziwayo yokuthintela ingxaki yemfuza ebangela uWilliam syndrome. Ukuvavanywa ngaphambi kokubeleka kuyafumaneka kwizibini ezinembali yosapho ye-Williams syndrome enqwenela ukukhulelwa.

Isifo sikaWilliam-Beuren; I-WBS; Isifo se-Beuren; Ukucinywa kwe7q11.23; Isifo se-Elfin facies

• Ibhulorho ngeempumlo Low
• Chromosomes kunye neDNA

UMorris CA. Isifo sikaWilliams. Ku: IPagon RA, uAdam MP, uArdinger HH, et al, ii-eds. Uphononongo lweGene. IYunivesithi yaseWashington, Seattle, WA. www.ncbi.nlm.nih.gov/books/NBK1249. Ukuhlaziywa kwe-Matshi 23, 2017. Ifikeleleke ngoNovemba 5, 2019.

Iwebhusayithi yeNeferensi yaseKhaya yeNLM. Isifo sikaWilliams. ghr.nlm.nih.gov/condition/williams-syndrome. Ukuhlaziywa ngoDisemba 2014. Kufikeleleke ngoNovemba 5, 2019.