Kwayar cuta ta tubes

Tuberous sclerosis cuta ce ta kwayar halitta wacce ke shafar fata, kwakwalwa / tsarin juyayi, kodan, zuciya, da huhu. Halin na iya haifar da ciwace-ciwace a cikin kwakwalwa. Wadannan ciwace-ciwacen suna da tuber ko bayyananniyar siga.

Kwayar cuta ta tuberous yanayin gado ne. Canje-canje (maye gurbi) a daya daga cikin kwayoyin halittu guda biyu, TSC1 kuma TSC2, sune ke da alhakin mafi yawan lokuta.

Iyaye daya ne kawai ke bukatar yada rikida ga yaro don kamuwa da cutar. Koyaya, kashi biyu bisa uku na shari'o'in suna faruwa ne saboda sabbin maye gurbi. A mafi yawan lokuta, babu tarihin iyali na cututtukan kasusuwa.

Wannan yanayin yana ɗayan rukunin cututtukan da ake kira cututtukan neurocutaneous. Duk fatar da tsarin juyayi na tsakiya (kwakwalwa da laka) suna da hannu.

Babu sanannun abubuwan haɗari, banda samun mahaifa mai cutar sikeli. A irin wannan halin, kowane yaro yana da damar kashi 50% na gadon cutar.

Alamar fata ta hada da:

• Yankunan fata waɗanda suke farare (saboda raguwar launin launi) kuma suna da ganyen toka ko kuma bayyanar da su
• Red faci a fuska dauke da jijiyoyin jini da yawa (facio angiofibromas)
• Raara facin fata tare da zane-zane mai ƙwanƙolin fata (ɗakunan shagreen), galibi akan baya

Kwayar cutar kwakwalwa ta hada da:

• Autism bakan cuta
• Ci gaban jinkiri
• Rashin hankali
• Kamawa

Sauran cututtukan sun hada da:

• Enamel na haƙori
• Growtharfin girma a ƙasan ko kusa da farcen yatsan hannu da ƙusa.
• Cutar marurai marasa ciwo a ko kusa da harshen.
• Cutar huhu da ake kira LAM (lymphangioleiomyomatosis). Wannan ya fi faruwa ga mata. A lokuta da yawa, babu alamun bayyanar. A wasu mutane, wannan na iya haifar da karancin numfashi, tari da jini, da huɗar huhu.
  

Alamomin sun banbanta daga mutum zuwa mutum. Wasu mutane suna da hankali na al'ada kuma ba kamawa. Wasu kuma suna da nakasa ta hankali ko kamun-kazar-sarrafawa.

Alamomin na iya haɗawa da:

• Heartwayar zuciya mara kyau (arrhythmia)
• Adadin Calcium a cikin kwakwalwa
• "Tubers" marasa kwakwalwa a cikin kwakwalwa
• Girman rubbi a kan harshe ko gumis
• Ciwan tumor (hamartoma) akan kwayar ido, kodadde ya zama goge ido
• Ciwan kwakwalwa ko koda

Gwaje-gwaje na iya haɗawa da:

• CT scan na kai
• Kirjin CT
• Echocardiogram (duban dan tayi na zuciya)
• MRI na kai
• Duban dan tayi
• Binciken hasken Ultraviolet na fata

Gwajin DNA don kwayoyin halittar guda biyu wadanda zasu iya haifar da wannan cuta (TSC1 ko TSC2) akwai.

Bincike na duban dan tayi na koda yana da mahimmanci don tabbatar babu ci gaban ƙari.

Babu sanannen magani don cututtukan kasusuwa. Saboda cutar na iya banbanta daga mutum zuwa mutum, ana ba da magani kan alamun.

• Dogaro da tsananin nakasawar ilimi, yaro na iya buƙatar ilimi na musamman.
• Wasu sarrafawa ana sarrafa su tare da magani (vigabatrin). Sauran yara na iya buƙatar tiyata.
• Growthananan ci gaba akan fuska (fuska angiofibromas) na iya cirewa ta hanyar maganin laser. Wadannan ci gaban suna dawowa, kuma za'a sake maimaita jiyya.
• Cardiac rhabdomyomas galibi suna ɓacewa bayan balaga. Ba a buƙatar yin tiyata don cire su yawanci.
• Ana iya magance cututtukan ƙwaƙwalwa tare da magunguna da ake kira masu hana mTOR (sirolimus, everolimus).
• Ana kula da cututtukan koda tare da tiyata, ko ta hanyar rage samar da jini ta amfani da fasahohin musamman na x-ray. Ana nazarin masu hana mTOR a matsayin wani magani na ciwan koda.

Don ƙarin bayani da albarkatu, tuntuɓi rousungiyar Tuberous Sclerosis a www.tsalliance.org.

Yaran da ke da ƙananan ƙwayar cuta na sclerosis galibi suna yin kyau. Koyaya, yara da ke fama da lahani mai rauni ko kamuwa da cuta da ba a iya shawo kansu galibi suna buƙatar taimako na tsawon rai.

Wani lokacin idan aka haifi yaro da tsananin ciwon ƙwayar cuta, ana iya samun ɗayan iyayen yana da larurar rashin ƙarfi na cututtukan ƙwayar cuta wanda ba a gano shi ba.

Ciwan ciwan da ke cikin wannan cutar sun zama marasa ciwo (mara kyau). Koyaya, wasu ciwace-ciwacen ƙwayoyi (kamar su koda ko ciwan ƙwaƙwalwa) na iya zama na kansa.

Matsaloli na iya haɗawa da:

• Ciwan ƙwaƙwalwa (astrocytoma)
• Ciwan zuciya (rhabdomyoma)
• Mai tsananin nakasa ilimi
• Kwacewar da ba a iya sarrafawa ba

Kira mai ba da sabis na kiwon lafiya idan:

• Ko wanne bangare na danginku yana da tarihin cututtukan fuka
• Kuna lura da alamun cututtukan ƙwayar cuta a cikin yaro

Kira ƙwararren masanin kwayar halitta idan an tabbatar da yaronku da cututtukan zuciya na zuciya. Kwayar cuta ta tuberous shine babban dalilin wannan ciwon.

Ana ba da shawara game da kwayar halitta don ma'aurata waɗanda ke da tarihin iyali na tarin fuka da na son haihuwa.

Ana iya gano cutar kafin haihuwa ga iyalai da sanannen maye gurbi ko tarihin wannan yanayin. Koyaya, cututtukan ƙwaƙwalwar ƙwayar cuta galibi suna bayyana kamar sabon maye gurbi na DNA. Wadannan shari'o'in ba abin hanawa bane.

Cutar Bourneville

• Tuberous sclerosis, angiofibromas - fuska
• Kwayar cuta ta tuberous - macule mai cike da jiki

Cibiyar Nazarin Neurowararrun Neurowararrun andwararraki da Yanar gizo. Takaddun shaida na tuberous sclerosis. NIH bugawa 07-1846. www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Tuberous-Sclerosis-Fact-Sheet. '' Bayanin yanar gizo An sabunta Maris 2020. An shiga Nuwamba 3, 2020.

Northrup H, Koenig MK, Pearson DA, et al. Hadadden ƙwayar cuta na tuberous. GeneReviews. Seattle (WA): Jami'ar Washington, Seattle; Yuli 13, 1999. An sabunta Afrilu 16, 2020. PMID: 20301399 pubmed.ncbi.nlm.nih.gov/20301399/.

Sahin M, Ullrich N, Srivastava S, Pinto A. Ciwon ƙwayar cuta na Neurocutaneous. A cikin: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Littafin koyar da ilimin yara. 21st ed. Philadelphia, PA: Elsevier; 2020: babi na 614.

Tsao H, Luo S. Neurofibromatosis da ƙwayar tuberous sclerosis. A cikin: Bolognia JL, Schaffer JV, Cerroni L, et al, eds. Dermatology. 4th ed. Philadelphia, PA: Elsevier; 2018: babi na 61.