Isifo sokuqina kwemithambo (tuberous sclerosis)

I-Tuberous sclerosis sisifo esichaphazela ulusu, inkqubo yobuchopho / yemithambo-luvo, izintso, intliziyo kunye nemiphunga. Le meko inokubangela ukuba amathumba akhule kwingqondo. Ezi tumors zinesifo sephepha okanye imbonakalo emile njengengcambu.

Isifo sokuqina kwemithambo sisifo esizuzwe njengelifa. Utshintsho (utshintsho) kuhlobo olunye lwento ezimbini, TSC1 kwaye TSC2, linoxanduva lwamatyala amaninzi.

Mnye kuphela umzali ekufuneka egqithisile kuguquko ukuze umntwana afumane esi sifo. Nangona kunjalo, isibini kwisithathu samatyala zibangelwe lutshintsho olutsha. Kwiimeko ezininzi, akukho mbali yosapho yesifo sokuqina kwemithambo.

Le meko yenye yeqela lezifo ezibizwa ngokuba zii-neurocutaneous syndromes. Zombini ulusu kunye nenkqubo ye-nervous system (ubuchopho kunye nentambo yomqolo) iyabandakanyeka.

Akukho zinto zaziwayo zomngcipheko, ngaphandle kokuba ngumzali onesifo sokuqina kwemithambo. Kwimeko apho, umntwana ngamnye unethuba le-50% lokufumana ilifa lesi sifo.

Iimpawu zolusu zibandakanya:

• Iindawo zolusu ezimhlophe (ngenxa yokuncipha kombala) kwaye zinegqabi lomlotha okanye imbonakalo yeconfetti
• Amabala abomvu ebusweni aqukethe imithambo yegazi emininzi (i-angiofibromas yobuso)
• Amabala aphakanyisiweyo esikhumba kunye ne-orenji-peel texture (amabala e-shagreen), rhoqo ngasemva

Iimpawu zobuchopho zibandakanya:

• Ukuphazamiseka kwembonakalo y Autism
• Ukulibaziseka kophuhliso
• Ukukhubazeka kwengqondo
• Ukuxhuzula

Ezinye iimpawu zibandakanya:

• I-enamel yamazinyo efakwe.
• Ukukhula okungalunganga phantsi okanye ngaphakathi kweenzipho kunye neenzwane.
• Iirubbery amathumba angenasifo somhlaza okanye ajikeleze ulwimi.
• Isifo semiphunga esaziwa njengeLAM (lymphangioleiomyomatosis). Oku kuxhaphake kakhulu kwabasetyhini. Kwiimeko ezininzi, akukho zimpawu. Kwabanye abantu, oku kungakhokelela ekuphefumlweni okuphefumlayo, ukukhwehlela igazi, kunye nokuwa kwemiphunga.
  

Iimpawu ziyahluka kumntu nomntu. Abanye abantu banengqondo eqhelekileyo kwaye akukho kuxhuzula. Abanye banokhubazeko ngokwasengqondweni okanye ukuxhuzula okunzima ukulawula.

Iimpawu zinokubandakanya:

• Isingqisho sentliziyo esingaqhelekanga (arrhythmia)
• Ukufakwa kweCalcium kwingqondo
• "Izilimo eziyizigaxa" ezingonakalisiyo kwingqondo
• Ukukhula kwerabha kulwimi okanye kwiintsini
• Ukukhula okufana nethumba (i-hamartoma) kwi-retina, amabala amdaka elisweni
• Ukudumba kwengqondo okanye izintso

Uvavanyo lunokubandakanya:

• Ukuvavanywa kwentloko kwe-CT
• Isifuba CT
• I-Echocardiogram (i-ultrasound yentliziyo)
• I-MRI yentloko
• I-Ultrasound yezintso
• Uvavanyo olukhanyayo lwe-ultraviolet kwesikhumba

Ukuvavanywa kwe-DNA kwezi ntlobo zimbini zemfuza kunokubangela esi sifo (TSC1 okanye TSC2) iyafumaneka.

Ukuhlolwa rhoqo kwe-ultrasound zezintso kubalulekile ukuqinisekisa ukuba akukho ukukhula kwethumba.

Akukho lunyango lwaziyo lwe-tuberous sclerosis. Ngenxa yokuba esi sifo sinokwahluka kumntu kumntu, unyango lusekelwe kwiimpawu.

• Kuxhomekeka kubukhali bokukhubazeka kwengqondo, umntwana unokufuna imfundo eyodwa.
• Olunye uhlaselo lulawulwa ngamayeza (vigabatrin). Abanye abantwana banokufuna utyando.
• Ukukhula okuncinci ebusweni (i-angiofibromas yobuso) kunokususwa ngonyango lwe-laser. Oku kukhula kuhlala kubuya, kwaye ukuphinda unyango kuya kufuneka.
• I-Cardiac rhabdomyomas ihlala inyamalala emva kokufikisa. Utyando lokuzisusa alufuneki.
• Amathumba ebongo anokunyangwa ngamayeza abizwa ngokuba yi-mTOR inhibitors (sirolimus, everolimus).
• Izidumba zezintso zinyangwa ngoqhaqho, okanye ngokunciphisa ukuhanjiswa kwegazi kusetyenziswa iindlela ezizodwa ze-x-ray. I-mTOR inhibitors ifundwa njengolunye unyango kwizicubu zezintso.

Ngolwazi olongezelelweyo kunye nezixhobo, nxibelelana noMbutho weTuberous Sclerosis ku www.tsalliance.org.

Abantwana abane-tuberous sclerosis ethambileyo bahlala benza kakuhle. Nangona kunjalo, abantwana abakhubazeke ngokuqatha ngokwasengqondweni okanye ukuxhuzula okungalawulekiyo bahlala befuna uncedo lobomi bonke.

Ngamanye amaxesha xa umntwana ezalwa enesifo sokuqina kwamathambo, omnye wabazali ufunyanwa enesifo sephepha esingafunyaniswanga.

Amathumba kwesi sifo athanda ukungabinomdlavuza (benign). Nangona kunjalo, amanye amathumba (anezintso okanye izicubu zobuchopho) anokuba ngumhlaza.

Iingxaki zinokubandakanya:

• Izicubu zeBongo (astrocytoma)
• Izidumbu zentliziyo (rhabdomyoma)
• Ukukhubazeka okukhulu kwengqondo
• Ukuxhuzula okungalawulekiyo

Fowunela umboneleli wakho wezempilo ukuba:

• Nokuba leliphi icala losapho lwakho linembali yesifo sokuqina kwemithambo
• Uyazibona iimpawu zesifo sokuqina kwamathambo emntwaneni wakho

Fowunela ingcali yemfuzo ukuba umntwana wakho ufumene ukuba une-rhabdomyoma yentliziyo. I-tuberous sclerosis ngoyena nobangela uphambili weli thumba.

Ukucebisa ngemfuzo kuyacetyiswa kwizibini ezinembali yosapho yesifo sokuqina kwemithambo kwaye ezifuna ukuba nabantwana.

Ukuxilongwa ngaphambi kokubeleka kuyafumaneka kwiintsapho ezinokutshintsha kwemfuza okanye imbali yale meko. Nangona kunjalo, i-tuberous sclerosis ihlala ibonakala njengenguquko entsha ye-DNA. La matyala akanakuthintelwa.

Isifo saseBourneville

• Isifo sokuqina kwemithambo, isifo se-angiofibromas - ubuso
• Isifo sokuqina kwemithambo (tuberous sclerosis) -i-macopigmented macule

IZiko leLizwe leengxaki zeNeological kunye newebhusayithi yeStroke. Iphepha elingu-Tuberous sclerosis sheet. Ukupapashwa kwe-NIH 07-1846. www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Tuberous-Sclerosis-Fact-Sheet. Ukuhlaziywa ngo-Matshi 2020. Kufikeleleke ngoNovemba 3, 2020.

Umntla H, uKoenig MK, uPearson DA, et al. Isifo sokuqina kwamathambo Uphononongo lweGene. Seattle (WA): IYunivesithi yaseWashington, Seattle; Julayi 13, 1999. Ukuhlaziywa kwe-Epreli 16, 2020. PMID: 20301399 pubmed.ncbi.nlm.nih.gov/20301399/.

Sahin M, Ullrich N, Srivastava S, Pinto A.Ii-syndromes zeNeurocutaneous syndromes. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 614.

I-Tsao H, iLuo S. Neurofibromatosis kunye ne-tuberous sclerosis. Ku: I-Bolognia JL, uSchaffer JV, uCerroni L, et al, ii-eds. Dermatology. Ngomhla we-4. IPhiladelphia, PA: Elsevier; I-2018: isahluko 61.