Matenda a Menkes

Matenda a Menkes ndi matenda obadwa nawo momwe thupi limavutikira kutengera mkuwa. Matendawa amakhudza chitukuko, chamaganizidwe ndi thupi.

Matenda a Menkes amayamba chifukwa cha vuto la Zamgululi jini. Cholakwikacho chimapangitsa kuti zikhale zovuta kuti thupi ligawire bwino (kunyamula) mkuwa mthupi lonse. Zotsatira zake, ubongo ndi ziwalo zina za thupi sizipeza mkuwa wokwanira, pomwe zimakhazikika m'matumbo ang'ono ndi impso. Mulingo wamkuwa wotsika umatha kukhudza kapangidwe ka mafupa, khungu, tsitsi, ndi mitsempha yamagazi, komanso kusokoneza kugwira ntchito kwa mitsempha.

Matenda a Menkes amakhala obadwa nawo, zomwe zikutanthauza kuti amayenda m'mabanja. Jini ili pa X-chromosome, chifukwa chake ngati mayi anyamula jini lopunduka, mwana wake aliyense wamwamuna ali ndi mwayi wa 50% (1 mu 2) wokhala ndi matendawa, ndipo 50% ya ana ake aakazi adzakhala onyamula matendawa . Mtundu woterewu umatchedwa X-yolumikizidwa kwambiri.

Kwa anthu ena, matendawa siobadwa nawo. M'malo mwake, vuto la majini limakhalapo panthawi yomwe mwana amakhala ndi pakati.

Zizindikiro zodziwika za matenda a Menkes m'makanda ndi awa:

• Tsitsi lofooka, kinky, lolimba, lochepa, kapena lopiringika
• Pudgy, masaya ofiira, khungu la nkhope lophwanyika
• Kudyetsa zovuta
• Kukwiya
• Kuperewera kwa kamvekedwe kathupi, kufooka
• Kutentha kwa thupi
• Kulemala kwamalingaliro ndi kuchedwa kwakukula
• Kugwidwa
• Kusintha kwa mafupa

Matenda a Menkes akangokayikira, mayesero omwe angachitike ndi awa:

• Kuyezetsa magazi kwa Ceruloplasmin (chinthu chomwe chimanyamula mkuwa m'magazi)
• Kuyesa magazi amkuwa
• Chikhalidwe cha khungu
• X-ray ya mafupa kapena x-ray ya chigaza
• Gene kuyesa kuti aone ngati vuto la Zamgululi jini

Kuchiza nthawi zambiri kumangothandiza mukangoyamba kumene matendawa asanachitike. Majekeseni amkuwa mumtsempha kapena pansi pa khungu agwiritsidwa ntchito ndi zotsatira zosakanikirana ndipo zimatengera ngati Zamgululi jini ili ndi zochita zina.

Izi zitha kukupatsirani zambiri pa matenda a Menkes:

• National Organisation for Rare Disways - rarediseases.org/rare-diseases/menkes-disease
• Buku Lofotokozera la NIH / NLM Genetics - ghr.nlm.nih.gov/condition/menkes-syndrome

Ana ambiri omwe ali ndi matendawa amamwalira mzaka zoyambirira zisanachitike.

Lankhulani ndi omwe amakuthandizani ngati muli ndi mbiri ya banja la matenda a Menkes ndipo mukufuna kukhala ndi ana. Mwana amene ali ndi vutoli nthawi zambiri amawonetsa zizindikiro adakali wakhanda.

Onani mlangizi wamtundu ngati mukufuna kukhala ndi ana ndipo muli ndi mbiri yabanja ya matenda a Menkes. Achibale a amayi (achibale omwe ali mbali ya amayi) a mwana wamwamuna yemwe ali ndi vutoli ayenera kuwonedwa ndi katswiri wazobadwa kuti adziwe ngati ali onyamula.

Matenda opatsirana tsitsi; Matenda a Menkes kinky tsitsi; Matenda a tsitsi la Kinky; Matenda onyamula amkuwa; Matenda opatsirana; Kuperewera kwa mkuwa wolumikizidwa ndi X

• Hypotonia

Kwon JM. Matenda a Neurodegenerative aubwana. 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 617.

Turnpenny PD, Ellard S. Zolakwa zakubadwa zama metabolism. Mu: Turnpenny PD, Ellard S, olemba. Zinthu za Emery za Medical Genetics. Wolemba 15. Philadelphia, PA: Elsevier; 2017: mutu 18.