Matenda a Canavan

Matenda a Canavan ndimavuto omwe amakhudza momwe thupi limasokonekera ndikugwiritsa ntchito aspartic acid.

Matenda a Canavan amapatsirana (obadwa nawo) kudzera m'mabanja. Ndizofala kwambiri pakati pa Ayuda achi Ashkenazi kuposa anthu wamba.

Kuperewera kwa enzyme aspartoacylase kumabweretsa kuchuluka kwa zinthu zotchedwa N-acetylaspartic acid muubongo. Izi zimapangitsa kuti nkhani yoyera yaubongo iwonongeke.

Pali mitundu iwiri ya matendawa:

• Neonatal (wakhanda) - Iyi ndiye njira yofala kwambiri. Zizindikiro zimakhala zovuta. Ana amawoneka ngati abwinobwino miyezi ingapo yoyambirira atabadwa. Pakadutsa miyezi 3 mpaka 5, amakhala ndi mavuto akukula, monga omwe atchulidwa pansipa pansi pa gawo la Zizindikiro m'nkhaniyi.
• Achinyamata - Izi sizachilendo kwenikweni. Zizindikiro zake ndizofatsa. Mavuto otukuka ndi ochepa poyerekeza ndi amtundu wa makanda. Nthawi zina, zizindikirazo zimakhala zochepa kwambiri kotero kuti sizimadziwika ngati matenda a Canavan.

Zizindikiro nthawi zambiri zimayamba mchaka choyamba cha moyo. Makolo amazindikira pomwe mwana wawo sakufika pazinthu zina zokula, kuphatikizapo kuwongolera mutu.

Zizindikiro zake ndi izi:

• Kukhazikika kosasintha ndi manja osinthasintha ndi miyendo yowongoka
• Zakudya zimayenderera kubwerera m'mphuno
• Mavuto akudya
• Kukula kukula kwa mutu
• Kukwiya
• Kusalankhula bwino kwa minofu, makamaka minofu ya m'khosi
• Kusowa kwa kuwongolera mutu mwana akakakamizidwa kuchoka pakunama kupita pakakhala
• Kutsata kosawoneka bwino, kapena khungu
• Reflux ndi kusanza
• Kugwidwa
• Kulemala kwakukulu kwamaluso
• Kumeza zovuta

Kuyezetsa thupi kumatha kuwonetsa:

• Maganizo okokomeza
• Kuuma pamodzi
• Kutayika kwa minofu mumitsempha yamagetsi yamaso

Kuyesedwa kwa chikhalidwe ichi ndi monga:

• Magazi amadzimadzi
• Makina a CSF
• Kuyesedwa kwa majini kwa aspartoacylase kusintha kwa majini
• Mutu wa CT
• Sinthani mutu wa MRI
• Mkodzo kapena umagazi wamagazi a aspartic acid okwera
• Kusanthula kwa DNA
  

Palibe mankhwala enieni omwe alipo. Thandizo lothandizira ndilofunika kwambiri kuti muchepetse zizindikiro za matendawa. Mankhwala a lithiamu ndi majini akuwerengedwa.

Zotsatirazi zitha kupereka chidziwitso chambiri pa matenda a Canavan:

• National Organisation for Rare Disways - rarediseases.org/rare-diseases/canavan-disease
• Bungwe la National Tay-Sachs & Allied Diseases Association - www.ntsad.org/index.php/the-diseases/canavan

Ndi matenda a Canavan, dongosolo lamanjenje lamkati limatha. Anthu atha kukhala olumala.

Omwe amakhala ndi mawonekedwe obadwa kumene nthawi zambiri samakhala kupitirira ubwana. Ana ena amatha kukhala achichepere. Omwe ali ndi mawonekedwe achichepere nthawi zambiri amakhala ndi moyo wanthawi zonse.

Matendawa sayambitsa zilema zazikulu monga:

• Khungu
• Kulephera kuyenda
• Kulemala kwamaluso

Itanani yemwe akukuthandizani ngati mwana wanu ali ndi zizindikiro zilizonse za matenda a Canavan.

Upangiri wa chibadwa umalimbikitsidwa kwa anthu omwe akufuna kukhala ndi ana ndikukhala ndi mbiri yabanja yamatenda a Kanavan. Uphungu uyenera kuganiziridwa ngati makolo onse ndi ochokera ku Ashkenazi achiyuda. Kwa gulu ili, kuyesa kwa DNA kumatha kudziwa nthawi zonse ngati makolo ndi omwe amanyamula.

Matendawa amatha kuperekedwa asanabadwe (matenda asanabadwe) poyesa amniotic fluid, madzi omwe amazungulira chiberekero.

Spongy alibe ubongo; Kuperewera kwa aspartoacylase; Canavan - matenda a van Bogaert

Elitt CM, Volpe JJ. Matenda osachiritsika a wakhanda. Mu: Volpe JJ, Inder TE, Darras BT, et al, olemba. Volpe's Neurology ya Mwana wakhanda. Lachisanu ndi chimodzi. Philadelphia, PA: Elsevier; 2018: mutu 29.

Matalon RK, Trapasso JM. Zofooka zamagetsi zama amino acid: N-acetylaspartic acid (matenda a Canavan). 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 103.15.

Vanderver A, Wolf NI. Matenda a chibadwa ndi kagayidwe kake ka zoyera. Mu: Swaiman KF, Ashwal S, Ferriero DM, et al, olemba. Swaiman's Pediatric Neurology: Mfundo ndi Zochita. Lachisanu ndi chimodzi. Philadelphia, PA: Elsevier; 2017: mutu 99.