Sturge-Weber cillad

Sturge-Weber syndrome (SWS) waa cilad naadir ah oo jirta dhalashada. Ilmaha qaba xaaladan wuxuu yeelan doonaa sumad dhalasho oo dekedda-khamri ah (badanaa wejiga) waxaana laga yaabaa inuu qabo dhibaatooyin xagga nidaamka neerfaha ah.

Dad badan, sababta Sturge-Weber waxaa u sabab ah isku-beddelid ka mid ah GNAQ hiddo-wadaha Hidda-wadahaani wuxuu saameeyaa xididdada dhiigga ee yaryar ee loo yaqaan 'capillaries' Dhibaatooyinka ku jira kala-baxa ayaa sababa wasakhda dekedda-khamriga inay sameysmaan.

Sturge-Weber looma maleynayo in loo sii gudbiyo (laga dhaxlayo) qoysaska.

Astaamaha SWS waxaa ka mid ah:

• Sunta wasakhda-khamriga (waxay ku badan tahay wajiga kore iyo indhaha-daboolka intiisa kale)
• Suuxdin
• Madax xanuun
• Curyaannimo ama daciifnimo hal dhinac ah
• Naafada waxbarashada
• Glaucoma (cadaadis dareere aad u sareeya isha)
• Qanjirka 'thyroid' (hypothyroidism)

Glaucoma waxaa laga yaabaa inay tahay hal calaamadood oo ah xaaladda.

Tijaabooyinka waxaa ka mid noqon kara:

• CT iskaanka
• Skaanka MRI
• Raajo

Daaweyntu waxay ku saleysan tahay astaamaha iyo astaamaha qofka, waxaana ka mid noqon kara:

• Dawooyinka lidka ku ah ka hortagga qalalaasaha
• Indhaha oo dhibco ama qalliin lagu daweeyo glaucoma
• Daaweynta laser-ka ee wasakhda dekedda-khamriga
• Daaweynta jirka ee curyaannimada ama daciifnimada
• Qalliinka maskaxda ee suurtogalka ah si looga hortago qalal

Kheyraadka soo socda ayaa ku siin kara macluumaad dheeraad ah SWS:

• Aasaaska Sturge-Weber - sturge-weber.org
• Ururka Qaranka ee Dhibaatooyinka Fudud - rarediseases.org/rare-diseases/sturge-weber-syndrome/#supporting-organizations
• NIH / NLM Tixraaca Hoyga Genetics - ghr.nlm.nih.gov/condition/sturge-weber-syndrome

SWS badanaa halis kuma aha nolosha. Xaaladdu waxay u baahan tahay dabagal joogto ah oo nolosha oo dhan ah. Tayada nolosha qofka waxay kuxirantahay sida ugu wanaagsan ee looga hortagi karo ama loo daweyn karo astaamahiisa (sida suuxdinta).

Qofku wuxuu u baahan doonaa inuu booqdo dhakhtarka indhaha (dhakhtarka indhaha) ugu yaraan hal mar sanadkii si loo daweeyo glaucoma. Waxay sidoo kale u baahan doonaan inay arkaan dhakhtarka neerfaha si loo daweeyo qalalaasaha iyo astaamaha kale ee habdhiska neerfaha.

Dhibaatooyinkan ayaa dhici kara:

• Koritaanka xididdada dhiigga ee aan caadiga ahayn ee madaxa
• Kordhinta sii socota ee wasakhda dekedda-khamriga
• Dib udhaca horumarka
• Dhibaatooyinka shucuurta iyo dhaqanka
• Glaucoma, oo u horseedi kara indho la'aan
• Curyaannimo
• Suuxdin

Bixiyaha xanaanada caafimaadka waa inuu hubiyaa dhamaan astaamaha dhalashada, oo ay kujiraan wasakhda khamriga dekedda. Suuxdin, dhibaatooyin aragga, curyaannimo, iyo isbeddello ku yimaada feejignaanta ama xaalad maskaxeed ayaa macnaheedu noqon karaa in daboolida maskaxda ay ku lug leedahay. Calaamadahaas waa in isla markaaba la qiimeeyo.

Ma jiro ka hortag la yaqaan.

Encephalotrigeminal angiomatosis; SWS

• Sturge-Weber syndrome - cagaha cagaha
• Sturge-Weber syndrome - lugaha
• Wasakhda khamriga ee wejiga canugga

Flemming KD, Brown RD. Cudurka epidemiology iyo taariikhda dabiiciga ah ee cilladaha xididdada xididdada dhiigga. Gudaha: Winn HR, ed. Youmans iyo Qalliinka neerfaha ee Winn. 7aad ed. Philadelphia, PA: Elsevier; 2017: cutubka 401.

Maguiness SM, Garzon MC. Ciladaha xididdada dhiigga. Gudaha: Eichenfield LF, Frieden IJ, Mathes EF, Zaenglein AL, eds. Dhallaanka iyo Dhallaanka Dermatology. 3aad ed. Philadelphia, PA: Elsevier Saunders; 2015: cutubka 22.

Sahin M, Ullrich N, Srivastava S, Pinto A. Cudurrada neerfaha. Gudaha: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Buugga Buugga Caafimaadka Caruurta. 21aad ed. Philadelphia, PA: Elsevier; 2020: cutubka 614.