Lefu la Sturge-Weber

Sturge-Weber syndrome (SWS) ke boloetse bo sa tloaelehang bo teng nakong ea tsoalo. Ngoana ea nang le boemo bona o tla ba le letheba la veine ea port-wine (hangata sefahlehong) mme a ka ba le mathata a sistimi ea methapo.

Ho batho ba bangata, sesosa sa Sturge-Weber se bakoa ke phetoho ea GNAQ liphatsa tsa lefutso. Lefu lena le ama methapo e menyenyane ea mali e bitsoang capillaries. Mathata a li-capillaries a etsa hore matheba a veine ea port a thehe.

Sturge-Weber ha ho nahanoe hore e ka fetisoa (e futsitsoe) ke malapa.

Matšoao a SWS a kenyelletsa:

• Letheba la veine ea koung (le atileng haholo sefahlehong se kaholimo le sekoaelo sa mahlo ho feta mmele o mong)
• Ho oa
• Ho opeloa ke hlooho
• Ho shoa litho kapa bofokoli ka lehlakoreng le leng
• Bokooa ba ho ithuta
• Glaucoma (khatello e phahameng haholo ea mokelikeli ka leihlong)
• Tšoelesa e tlaase (hypothyroidism)

Glaucoma e ka ba sesupo se le seng sa boemo.

Liteko li ka kenyelletsa:

• CT scan
• Ho hlahloba MRI
• Li-X-ray

Kalafo e ipapisitse le matšoao a motho, mme e kanna ea kenyelletsa:

• Meriana ea li-anticonvulsant bakeng sa ho oa
• Marotholi a mahlo kapa ho buuoa ho phekola glaucoma
• Phekolo ea laser bakeng sa litšila tsa veine ea port
• Phekolo ea 'mele bakeng sa ho holofala kapa bofokoli
• Ho ka etsoa opereishene ea boko ho thibela ho oa

Lisebelisoa tse latelang li ka fana ka tlhaiso-leseling e batsi ho SWS:

• Motheo oa Sturge-Weber - sturge-weber.org
• Mokhatlo oa Naha oa Mathata a Rare - rarediseases.org/rare-diseases/sturge-weber-syndrome/#supporting-or Organisations
• Tlhatlhobo ea Lehae ea NIH / NLM Genetics - ghr.nlm.nih.gov/condition/sturge-weber-syndrome

Hangata SWS ha e kotsing ea bophelo. Boemo bona bo hloka tšalo-morao ea bophelo bohle. Boleng ba bophelo ba motho bo ipapisitse le hore na matšoao a hae (joalo ka ho oela) a ka thibeloa kapa a phekoloa hantle hakae.

Motho o tla hloka ho etela ngaka ea mahlo (ophthalmologist) bonyane hang ka selemo ho phekola glaucoma. Ba tla hloka hape ho bona ngaka ea methapo ea mafu ho phekola sethoathoa le matšoao a mang a tsamaiso ea methapo.

Mathata ana a ka hlaha:

• Khōlo e sa tloaelehang ea sejana sa mali ka lehata
• Tsoelo-pele e ntseng e hola ea letheba la veine ea port
• Ho lieha ho ntlafatsa
• Mathata a maikutlo le boits'oaro
• Glaucoma, e ka lebisang bofofu
• Ho shoa litho
• Ho oa

Mofani oa tlhokomelo ea bophelo o lokela ho hlahloba matšoao ohle a tsoalo, ho kenyeletsoa letheba la veine ea port. Ho oa, ho ba le mathata a pono, ho holofala le ho fetoha ha boemo ba kelello kapa boemo ba kelello ho ka bolela hore boko bo amehang. Matšoao ana a lokela ho hlahlojoa hang-hang.

Ha ho na thibelo e tsebahalang.

Encephalotrigeminal angiomatosis; SWS

• Sturge-Weber syndrome - bohato ba maoto
• Sturge-Weber syndrome - maoto
• Letheba la veine ea kou sefahlehong sa ngoana

Flemming KD, Brown RD. Epidemiology le nalane ea tlhaho ea ho se sebetse hantle ha methapo ea mali. Ka: Winn HR, e hlophisitsoeng. Phekolo ea Youmans le Winn Neurological. La 7th. Philadelphia, PA: Elsevier; 2017: khaolo ea 401.

Boholo SM, Garzon MC. Mathata a vascular. Ka: Eichenfield LF, Frieden IJ, Mathes EF, Zaenglein AL, bahlophisi. Dermatology ea bongoana le ea masea. 3rd ed. Philadelphia, PA: Elsevier Saunders; 2015: khaolo ea 22.

Sahin M, Ullrich N, Srivastava S, Pinto A. Li-syndromes tsa methapo ea kutlo. Ka: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, bahlophisi. Buka ea Nelson ea Pediatrics. La 21 Ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 614.