Isifo se-Sturge-Weber

I-Sturge-Weber syndrome (i-SWS) yisifo esingajwayelekile esikhona lapho kuzalwa. Ingane enalesi simo izoba nophawu lokuzalwa lwebala le-port-wine (imvamisa ebusweni) futhi ingaba nezinkinga zesistimu yezinzwa.

Kubantu abaningi, imbangela ye-Sturge-Weber ingenxa yokuguqulwa kwesimo se- I-GNAQ isakhi sofuzo. Lesi sakhi sithinta imithambo yegazi emincane ebizwa ngokuthi ama-capillaries. Izinkinga kuma-capillaries zibanga amabala ewayini letheku.

I-Sturge-Weber akucatshangwa ukuthi idluliswa (izuzwe njengefa) ngemindeni.

Izimpawu ze-SWS zifaka:

• Ibala le-Port-wine (livame kakhulu ebusweni obungaphezulu nesembozo samehlo ukwedlula wonke umzimba)
• Ukuquleka
• Ubuhlungu bekhanda
• Ukukhubazeka noma ubuthakathaka ohlangothini olulodwa
• Ukukhubazeka kokufunda
• I-glaucoma (umfutho ophakeme kakhulu ketshezi esweni)
• I-thyroid ephansi (hypothyroidism)

I-glaucoma ingaba uphawu olulodwa lwalesi simo.

Ukuhlolwa kungafaka:

• Iskena se-CT
• Ukuskena kwe-MRI
• Ama-X-ray

Ukwelashwa kusekelwe kwizimpawu nezimpawu zomuntu, futhi kungafaka:

• Imithi ye-Anticonvulsant yokuquleka
• Amaconsi wamehlo noma ukuhlinzwa ukwelapha i-glaucoma
• Ukwelashwa kwe-Laser ngamachweba ewayini lembobo
• Ukwelashwa ngokomzimba ngokukhubazeka noma ubuthakathaka
• Ukuhlinzwa kobuchopho okungenzeka ukuvimbela ukuquleka

Izinsizakusebenza ezilandelayo zinganikeza imininingwane eminingi nge-SWS:

• Isisekelo se-Sturge-Weber Foundation - sturge-weber.org
• Inhlangano Kazwelonke Yezinkinga Ezingajwayelekile - rarediseases.org/rare-diseases/sturge-weber-syndrome/#supporting-organizations
• Isethenjwa Sasekhaya se-NIH / NLM - ghr.nlm.nih.gov/condition/sturge-weber-syndrome

I-SWS imvamisa ayisongeli impilo. Isimo sidinga ukulandelelwa okuhlala njalo kwempilo yonke. Izinga lokuphila lomuntu lixhomeke ekutheni izimpawu zabo (njengokuquleka) zingavinjelwa noma zelashwe kanjani.

Umuntu kuzodingeka avakashele udokotela wamehlo (ophthalmologist) okungenani kanye ngonyaka ukwelapha i-glaucoma. Bazodinga nokubona udokotela wezinzwa ukuze alaphe ukuquleka nezinye izimpawu zesistimu yezinzwa.

Lezi zinkinga zingenzeka:

• Ukukhula okungavamile kwesitsha segazi kugebhezi
• Ukukhula okuqhubekayo kwebala lewayini letheku
• Ukubambezeleka kwentuthuko
• Izinkinga ezingokomzwelo nezokuziphatha
• I-glaucoma, engaholela ekungaboni
• Ukukhubazeka
• Ukuquleka

Umhlinzeki wezempilo kufanele ahlole zonke izimpawu zokuzalwa, kufaka phakathi ibala lewayini letheku. Ukuquleka, izinkinga zokubona, ukukhubazeka, kanye noshintsho ekuxwayeni noma esimweni sengqondo kungasho ukuthi ukumbozwa kobuchopho kuyabandakanyeka. Lezi zimpawu kufanele zihlolwe ngokushesha.

Akukho ukuvimbela okwaziwayo.

I-encephalotrigeminal angiomatosis; SWS

• Isifo i-Sturge-Weber syndrome - amathe ezinyawo
• Isifo se-Sturge-Weber - imilenze
• Ibala lewayini lasePort ebusweni bengane

UFlemming KD, uBrown RD. I-Epidemiology nomlando wemvelo wokungasebenzi kahle kwemithambo yegazi. Ku: Winn HR, ed. Ukuhlinzwa Kwe-Youmans neWinn Neurological. Umhla wesi-7. IPhiladelphia, PA: Elsevier; I-2017: isahluko 401.

Ubukhulu SM, Garzon MC. Ukukhubazeka kwe-Vascular. Ku: Eichenfield LF, Frieden IJ, Mathes EF, Zaenglein AL, eds. I-Neonatal ne-Infant Dermatology. 3rd ed. IPhiladelphia, PA: Elsevier Saunders; 2015: isahluko 22.

USahin M, Ullrich N, Srivastava S, Pinto A. Ama-syndromes we-Neurocutaneous. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 614.