Tuberous sclerosis

Tuberous sclerosis ndimatenda amtundu omwe amakhudza khungu, ubongo / mitsempha, impso, mtima, ndi mapapo. Vutoli limathandizanso kuti zotupa zikule muubongo. Zotupa izi zimakhala ndi chifuwa kapena mawonekedwe owoneka ngati mizu.

Tuberous sclerosis ndi cholowa chobadwa nacho. Kusintha (kusintha) mu chimodzi mwanjira ziwiri, TSC1 ndipo TSC2, ali ndi udindo pazifukwa zambiri.

Ndi kholo limodzi lokha lomwe liyenera kupereka kusintha kwa mwanayo kuti atenge matendawa. Komabe, magawo awiri mwa atatu amilandu chifukwa cha kusintha kwatsopano. Nthawi zambiri, palibe mbiri yakubadwa kwa tuberous sclerosis.

Matendawa ndi amodzi mwamatenda omwe amatchedwa ma neurocutaneous syndromes. Khungu ndi chapakati dongosolo lamanjenje (ubongo ndi msana) zimakhudzidwa.

Palibe zifukwa zoopsa, kupatula kukhala ndi kholo lomwe lili ndi tuberous sclerosis. Zikatero, mwana aliyense ali ndi mwayi wa 50% wolandira matendawa.

Zizindikiro za khungu ndi izi:

• Madera akhungu loyera (chifukwa chakuchepa kwa pigment) ndipo amakhala ndi tsamba la phulusa kapena mawonekedwe a confetti
• Magazi ofiira kumaso okhala ndi mitsempha yambiri (nkhope angiofibromas)
• Zikopa zakukula ndi utoto wa lalanje (mawanga obiriwira), nthawi zambiri kumbuyo

Zizindikiro zaubongo zimaphatikizapo:

• Matenda a Autism
• Kuchedwa kwachitukuko
• Kulemala kwamaluso
• Kugwidwa

Zizindikiro zina ndizo:

• Anakhomerera dzino enamel.
• Kukula kokhwima pansi kapena mozungulira zikhadabo ndi zala zanu.
• Zotupa zopanda mafinya zamkati kapena mozungulira lilime.
• Matenda a m'mapapo otchedwa LAM (lymphangioleiomyomatosis). Izi ndizofala kwambiri mwa amayi. Nthawi zambiri, sipakhala zizindikiro. Kwa anthu ena, izi zimatha kubweretsa kupuma pang'ono, kutsokomola magazi, ndi mapapo kugwa.
  

Zizindikiro zimasiyanasiyana malinga ndi munthu. Anthu ena ali ndi nzeru wamba ndipo samakomoka. Ena ali ndi zilema zamaganizidwe kapena amagwa movutikira.

Zizindikiro zimatha kuphatikiza:

• Mtima wosazolowereka (arrhythmia)
• Kalasi imayika mu ubongo
• Ma "tubers" osagwirizana ndi khansa muubongo
• Mpira umakula pakulankhula kapena m'kamwa
• Kukula kofanana ndi chotupa (hamartoma) pa diso, zotchingira m'maso
• Zotupa zaubongo kapena impso

Mayeso atha kuphatikiza:

• Kujambula kwa CT pamutu
• Chifuwa CT
• Echocardiogram (ultrasound ya mtima)
• MRI ya mutu
• Ultrasound ya impso
• Kuunika kwa ultraviolet khungu

Kuyeza kwa DNA kwa majini awiri omwe angayambitse matendawa (TSC1 kapena TSC2) ikupezeka.

Kufufuza pafupipafupi kwa impso ndikofunikira ndikuonetsetsa kuti palibe chotupa chokula.

Palibe mankhwala omwe amadziwika kuti tuberous sclerosis. Chifukwa matendawa amatha kusiyanasiyana pamunthu wina ndi mnzake, chithandizo chimazikidwa pazizindikiro.

• Kutengera kukula kwa luntha, mwanayo angafunike maphunziro apadera.
• Ena amagwidwa ndi mankhwala (vigabatrin). Ana ena angafunike kuchitidwa opaleshoni.
• Zing'onozing'ono pamaso (nkhope angiofibromas) zimatha kuchotsedwa ndi mankhwala a laser. Kukula uku kumakonda kubwerera, ndipo kubwereza mankhwala kudzafunika.
• Ma rhabdomyomas amtima amakonda kutha msinkhu. Kuchita opaleshoni kuti muwachotse nthawi zambiri sikofunikira.
• Zotupa zamaubongo zitha kuchiritsidwa ndi mankhwala otchedwa mTOR inhibitors (sirolimus, everolimus).
• Zotupa za impso zimathandizidwa ndi opaleshoni, kapena pochepetsa magazi pogwiritsa ntchito njira zapadera za x-ray. MTOR inhibitors akuwerengedwa ngati chithandizo china cha zotupa za impso.

Kuti mumve zambiri komanso zothandizira, kulumikizana ndi Tuberous Sclerosis Alliance ku www.tsalliance.org.

Ana omwe ali ndi chifuwa chachikulu chotchedwa tuberous sclerosis nthawi zambiri amachita bwino. Komabe, ana omwe ali ndi vuto lanzeru kwambiri kapena khunyu losalamulirika nthawi zambiri amafuna thandizo kwa moyo wawo wonse.

Nthawi zina mwana akabadwa ndi chifuwa chachikulu, m'modzi mwa makolowo amapezeka kuti anali ndi vuto la chifuwa chachikulu lomwe silinapezeke.

Zotupa zamatendawa sizikhala zotulutsa khansa (zabwino). Komabe, zotupa zina (monga impso kapena zotupa zamaubongo) zimatha kukhala khansa.

Zovuta zingaphatikizepo:

• Zotupa zamaubongo (astrocytoma)
• Zotupa za mtima (rhabdomyoma)
• Kulemala kwakukulu kwamaluso
• Kugwidwa kosalamulirika

Imbani wothandizira zaumoyo wanu ngati:

• Mbali iliyonse ya banja lanu ili ndi mbiri ya tuberous sclerosis
• Mukuwona zizindikiro za matenda a tuberous sclerosis mwa mwana wanu

Itanani katswiri wa majini ngati mwana wanu amapezeka kuti ali ndi rhabdomyoma yamtima. Tuberous sclerosis ndiyomwe imayambitsa chotupachi.

Upangiri wa chibadwa umalimbikitsidwa kwa maanja omwe ali ndi mbiri yakubadwa ndi chifuwa chachikulu komanso omwe akufuna kukhala ndi ana.

Matendawa asanabadwe amapezeka m'mabanja omwe ali ndi kusintha kwa majini kapena mbiri yakale. Komabe, tuberous sclerosis nthawi zambiri imawoneka ngati kusintha kwatsopano kwa DNA. Milanduyi siyitetezedwa.

Matenda a Bourneville

• Tuberous sclerosis, angiofibromas - nkhope
• Tuberous sclerosis - macule osakanikirana

National Institute of Neurological Disorders ndi tsamba la Stroke. Tuberous sclerosis pepala. Kufalitsa kwa NIH 07-1846. www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Tuberous-Sclerosis-Fact-Sheet. Idasinthidwa pa Marichi 2020. Idapezeka Novembala 3, 2020.

Kumpoto H, Koenig MK, Pearson DA, et al. Tuberous sclerosis zovuta. Zowonjezera. Seattle (WA): Yunivesite ya Washington, Seattle; Julayi 13, 1999. Idasinthidwa pa Epulo 16, 2020. PMID: 20301399 pubmed.ncbi.nlm.nih.gov/20301399/.

Sahin M, Ullrich N, Srivastava S, Pinto A. Ma syndromes amtundu wosagwirizana. Mu: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: chap 614.

Tsao H, Luo S. Neurofibromatosis ndi tuberous sclerosis zovuta. Mu: Bolognia JL, Schaffer JV, Cerroni L, et al, olemba. Matenda Opatsirana. Wolemba 4. Philadelphia, PA: Elsevier; 2018: mutu 61.