Isifo seSturge-Weber

I-Sturge-Weber syndrome (i-SWS) sisifo esinqabileyo esikhoyo ekuzalweni. Umntwana onale meko uya kuba ne-portmark yebala lokuzalwa le-port (ihlala ebusweni) kwaye unokuba neengxaki zenkqubo ye-nervous.

Kubantu abaninzi, unobangela weSturge-Weber kungenxa yenguquko ye I-GNAQ Uhlobo. Olu luhlobo luchaphazela imithambo yegazi encinci ebizwa ngokuba zii-capillaries. Iingxaki kwii-capillaries zibangela ukuba amabala eewayini zewayini zibekho.

I-Sturge-Weber ayicingelwa ukuba idluliselwe (izuze njengelifa) kwiintsapho.

Iimpawu ze-SWS zibandakanya:

• Ibala le-port-wayini (exhaphake kakhulu ebusweni obuphezulu nakwisimbozo yamehlo kunawo wonke umzimba)
• Ukuxhuzula
• Intloko ebuhlungu
• Ukukhubazeka okanye ubuthathaka kwelinye icala
• Ukukhubazeka ekufundeni
• I-glaucoma (uxinzelelo oluphezulu kakhulu lolwelo kwiso)
• I-thyroid ephantsi (hypothyroidism)

I-Glaucoma ingangumqondiso omnye wale meko.

Uvavanyo lunokubandakanya:

• Ukuskena i-CT
• Ukuskena iMRI
• X-reyi

Unyango lusekwe kwiimpawu zomntu kunye neempawu, kwaye lunokubandakanya:

• Amayeza okubulala i-anticonvulsant
• Amaconsi wamehlo okanye utyando ukunyanga i-glaucoma
• Unyango lweLaser kumachaphaza eewayini zewayini
• Unyango lomzimba lokukhubazeka okanye ubuthathaka
• Utyando lobuchopho olunokwenzeka ukukhusela ukuxhuzula

Ezi zixhobo zilandelayo zinokubonelela ngolwazi oluthe kratya kwi-SWS:

• Isiseko seSturge-Weber - sturge-weber.org
• Umbutho weSizwe woNxunguphalo oluNqabileyo- rarediseases.org/rare-diseases/sturge-weber-syndrome/#supporting-or Organisations
• Isalathiso sasekhaya se-NIH / NLM yemfuzo - ghr.nlm.nih.gov/condition/sturge-weber-syndrome

I-SWS ihlala isongela ubomi. Imeko leyo ifuna ukulandela rhoqo ubomi bakho bonke. Umgangatho wobomi bomntu uxhomekeke ekubeni iimpawu zabo (ezinje ngokuxhuzula) zinokuthintelwa okanye ziphathwe njani.

Umntu kuya kufuneka atyelele ugqirha wamehlo (ophthalmologist) ubuncinci kube kanye ngonyaka ukunyanga i-glaucoma. Kananjalo kuya kufuneka ukuba babone ugqirha wemithambo-luvo ukunyanga ukuxhuzula kunye nezinye iimpawu zenkqubo yeemvakalelo.

Ezi ngxaki zinokwenzeka:

• Ukukhula kwenqanawa yegazi ngokungaqhelekanga
• Ukuqhubeka kokukhula kwebala lewayini yezibuko
• Ukulibaziseka kophuhliso
• Iingxaki zemvakalelo kunye nokuziphatha
• I-Glaucoma, enokuthi ikhokelele kubumfama
• Ukukhubazeka
• Ukuxhuzula

Umboneleli wezempilo kufuneka ajonge onke amanqaku okuzalwa, kubandakanya nebala lewayini yezibuko. Ukuxhuzula, iingxaki zombono, ukukhubazeka, kunye notshintsho kwisilumkiso okanye imeko yengqondo kunokuthetha ukuba ukugqunywa kwengqondo kuyabandakanyeka. Ezi mpawu kufuneka zivavanywe kwangoko.

Akukho sithintelo saziwayo.

Encephalotrigeminal angiomatosis; I-SWS

• Isifo se-Sturge-Weber syndrome - iinyawo ezinyaweni
• Isifo seSturge-Weber - imilenze
• Ibala lewayini yezibuko ebusweni bomntwana

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Ubukhulu be-SM, iGarzon MC. Ukungasebenzi kakuhle kwemithambo. Ku: Eichenfield LF, Frieden IJ, Mathes EF, Zaenglein AL, eds. I-Dermatology yeNonatal kunye neentsana. Ngomhla wesi-3. IPhiladelphia, PA: Elsevier Saunders; 2015: isahluko 22.

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