Matenda a Williams

Matenda a Williams ndi matenda osowa omwe angayambitse mavuto ndi chitukuko.

Matenda a Williams amayamba chifukwa chosowa mtundu wa majini 25 mpaka 27 pa chromosome nambala 7.

• Nthawi zambiri, majini amasintha (masinthidwe) amangochitika okha, mwina mu umuna kapena dzira lomwe mwana amachokera.
• Komabe, munthu wina akatenga kusintha kwa majini, ana awo amakhala ndi mwayi wolandira cholowa mwa 50%.

Chimodzi mwazomwe zimasowa ndi jini yomwe imatulutsa elastin. Awa ndi mapuloteni omwe amalola mitsempha yamagazi ndi ziwalo zina m'thupi kutambasula. Zikuwoneka kuti kusowa mtundu wa jeni kumapangitsa kuchepa kwa mitsempha yamagazi, khungu lotambasula, ndi malo olumikizana mosavuta omwe amapezeka motere.

Zizindikiro za matenda a Williams ndi:

• Mavuto akudya, kuphatikiza colic, Reflux, ndi kusanza
• Kulowetsa mkati chala chaching'ono
  
• Chifuwa chonyansa
• Matenda a mtima kapena mavuto amitsempha yamagazi
  
• Kukula kwakukula, kufooka kwakuchepera pang'ono pang'ono, zovuta zamaphunziro
• Mawu ochedwa omwe pambuyo pake amatha kukhala luso lolankhula bwino komanso kuphunzira mwamphamvu pakumva
  
• Kusokonezeka mosavuta, kusowa chidwi kwa chidwi cha matenda (ADHD)
• Makhalidwe a umunthu kuphatikizapo kukhala ochezeka kwambiri, kukhulupirira alendo, kuopa kulira mokweza kapena kulumikizana, ndikukonda nyimbo
• Mwachidule, poyerekeza ndi banja lonse la munthuyo

Maonekedwe ndi pakamwa pa munthu yemwe ali ndi matenda a Williams atha kuwonetsa:

• Mlatho wamphuno wosanjikiza wokhala ndi mphuno yaying'ono yotembenuka
• Mizere yayitali pakhungu lomwe limayambira pamphuno mpaka kukamwa kumtunda
• Milomo yotchuka yokhala ndi pakamwa potsegula
• Khungu lomwe limakwirira pakona lamkati la diso
• Mano omwe akusowa pang'ono, enamel opindika, kapena mano ang'onoang'ono, otalikirana kwambiri

Zizindikiro zimaphatikizapo:

• Kupondereza mitsempha ina
• Kuonera patali
• Mavuto amano, monga mano omwe amakhala otalikirana kwambiri
• Mulingo wambiri wama calcium wamagazi womwe ungayambitse kukomoka ndi minofu yolimba
• Kuthamanga kwa magazi
• Maselo omasuka omwe angasinthe kukhala olimba pamene munthu akukalamba
• Ndondomeko yachilendo yofanana ndi nyenyezi mu iris ya diso

Mayeso a Williams syndrome ndi awa:

• Kufufuza kwa magazi
• Kuyezetsa magazi kwa chromosome 7 yomwe ikusowa (mayeso a FISH)
• Mkodzo ndi kuyezetsa magazi pamlingo wa calcium
• Zojambulajambula pamodzi ndi Doppler ultrasound
• Impso ultrasound

Palibe mankhwala a Williams syndrome. Pewani kumwa kashiamu wowonjezera komanso vitamini D. Chitani kashiamu wambiri wamagazi ngati zingachitike. Kuchepetsa ziwiya zamagazi kumatha kukhala vuto lalikulu lathanzi. Chithandizocho chimadalira kukula kwake.

Thandizo lamthupi ndilothandiza kwa anthu olimba molumikizana. Chithandizo chachitukuko ndi mayankhulidwe chingathandizenso. Mwachitsanzo, kukhala ndi luso lolankhula bwino kungathandize kuthana ndi zofooka zina. Mankhwala ena amachokera ku zizindikiro za munthuyo.

Zitha kuthandizira kuti chithandizo chithandizidwe ndi a geneticist omwe ali ndi vuto la Williams syndrome.

Gulu lothandizira lingakhale lothandiza pakulimbikitsana komanso popereka ndi kulandira upangiri woyenera. Bungwe lotsatirali limapereka zambiri zowonjezera za Williams syndrome:

Williams Syndrome Association - williams-syndrome.org

Anthu ambiri omwe ali ndi matenda a Williams:

• Khalani ndi vuto linalake.
• Sikhala moyo wautali chifukwa chazovuta zosiyanasiyana zamankhwala komanso zovuta zina zomwe zingachitike.
• Amafuna osamalira wanthawi zonse ndipo nthawi zambiri amakhala m'nyumba zoyang'aniridwa zamagulu.

Zovuta zingaphatikizepo:

• Calcium imayikidwa mu impso ndi mavuto ena a impso
• Imfa (nthawi zambiri kuchokera ku anesthesia)
• Kulephera kwa mtima chifukwa chotaya magazi
• Ululu m'mimba

Zizindikiro zambiri za Williams syndrome sizingadziwike pobadwa. Itanani yemwe akukuthandizani ngati mwana wanu ali ndi mawonekedwe ofanana ndi a Williams syndrome. Funsani uphungu wamtundu ngati muli ndi banja la Williams syndrome.

Palibe njira yodziwika yothetsera vuto la chibadwa lomwe limayambitsa matenda a Williams. Kuyezetsa magazi asanabadwe kumapezeka kwa mabanja omwe ali ndi mbiri ya banja ya Williams syndrome omwe akufuna kutenga pakati.

Matenda a Williams-Beuren; WBS; Matenda a Beuren; 7q11.23 kufufutidwa kwamatenda; Matenda a Elfin facies

• Mlatho wotsika wapansi
• Chromosomes ndi DNA

(Adasankhidwa) Morris CA. Matenda a Williams. Mu: Pagon RA, Adam MP, Ardinger HH, et al, eds. Zowonjezera. Yunivesite ya Washington, Seattle, WA. www.ncbi.nlm.nih.gov/books/NBK1249. Idasinthidwa pa Marichi 23, 2017. Idapezeka Novembala 5, 2019.

Tsamba la NLM Genetics Home Reference. Matenda a Williams. ghr.nlm.nih.gov/condition/williams-syndrome. Idasinthidwa mu Disembala 2014. Idapezeka Novembala 5, 2019.