Matenda a Chediak-Higashi

Matenda a Chediak-Higashi ndimatenda achilendo amthupi ndi amanjenje. Zimaphatikizapo tsitsi lofiirira, maso, ndi khungu.

Matenda a Chediak-Higashi amapitilira m'mabanja (obadwa nawo). Ndi matenda opatsirana pogonana. Izi zikutanthauza kuti makolo onse amanyamula mtundu wosagwira ntchito wa jini. Kholo lililonse liyenera kupatsira mwanayo jini yake yosagwira kuti awonetse zizindikiro za matendawa.

Zowonongeka zapezeka mu LYST (amatchedwanso CHS1jini. Cholakwika chachikulu cha matendawa chimapezeka muzinthu zina zomwe zimapezeka m'maselo a khungu ndi maselo oyera amwazi.

Ana omwe ali ndi vutoli atha kukhala ndi:

• Tsitsi lasiliva, maso owala (albinism)
• Kuchulukitsa matenda m'mapapu, khungu, ndi mamina
• Kuyenda kwamaso kwa Jerky (nystagmus)

Kutenga ana omwe akhudzidwa ndi ma virus ena, monga Epstein-Barr virus (EBV), kumatha kuyambitsa matenda owopsa ngati khansa yamagazi ya lymphoma.

Zizindikiro zina zitha kuphatikiza:

• Kuchepetsa masomphenya
• Kulemala kwamaluso
• Minofu kufooka
• Mavuto amitsempha m'miyendo (zotumphukira za m'mitsempha)
• Kutulutsa magazi m'mphuno kapena mabala osavuta
• Kunjenjemera
• Kugwedezeka
• Kugwidwa
• Kumvetsetsa kuwala kowala (photophobia)
• Kuyenda kosakhazikika (ataxia)

Wothandizira zaumoyo adzayesa. Izi zitha kuwonetsa zizindikilo zotupa kapena chiwindi kapena jaundice.

Mayeso omwe angachitike ndi awa:

• Kuwerengera kwathunthu kwamagazi, kuphatikiza kuchuluka kwama cell oyera
• Kuwerengera kwa magazi m'magazi
• Chikhalidwe cha magazi ndi kupaka
• MRI ya Ubongo kapena CT
• EEG
• EMG
• Kuyesa kwamitsempha kwamitsempha

Palibe mankhwala enieni a matenda a Chediak-Higashi. Kuwaza mafuta m'mafupa koyambirira kwa matendawa kumawoneka ngati kwachita bwino mwa odwala angapo.

Maantibayotiki amagwiritsidwa ntchito pochiza matenda. Mankhwala osokoneza bongo, monga acyclovir, ndi chemotherapy mankhwala nthawi zambiri amagwiritsidwa ntchito pakufulumira kwa matendawa. Kuika magazi ndi kupatsidwa magazi m'maplatelete kumaperekedwa ngati kungafunikire. Kuchita opaleshoni kungafunike kukhetsa ma abscess nthawi zina.

National Organisation for Rare Disways (NORD) - rarediseases.org

Imfa imapezeka mzaka 10 zoyambirira za moyo, kuchokera kumatenda a nthawi yayitali kapena matenda othamangitsidwa omwe amabweretsa matenda ngati lymphoma. Komabe, ana ena omwe akhudzidwa amakhala ndi moyo kwa nthawi yayitali.

Zovuta zingaphatikizepo:

• Matenda pafupipafupi okhudzana ndi mitundu ina ya mabakiteriya
• Khansara yofanana ndi Lymphoma imayambitsidwa ndi matenda opatsirana monga EBV
• Kumwalira koyambirira

Itanani omwe akukuthandizani ngati muli ndi banja lanu lavutoli ndipo mukukonzekera kukhala ndi ana.

Lankhulani ndi omwe amakupatsani ngati mwana wanu akuwonetsa zizindikiro za matenda a Chediak-Higashi.

Upangiri wamtunduwu umalimbikitsidwa musanatenge mimba ngati muli ndi mbiri yabanja ya Chediak-Higashi.

Zovala TD. Zovuta za ntchito ya phagocyte. 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 156.

Dinauer MC, Wophimba TD. Zovuta za ntchito ya phagocyte. Mu: Hoffman R, Benz EJ, Silberstein LE, et al, olemba. Hematology: Mfundo Zoyambira ndi Zochita. Wachisanu ndi chiwiri. Philadelphia, PA: Elsevier; 2018: chap 50.

Toro C, Nicoli ER, Malicdan MC, Adams DR, Wowonekera WJ. Matenda a Chediak-Higashi. Ndemanga za Gene. 2015. PMID: 20301751 www.ncbi.nlm.nih.gov/pubmed/20301751. Idasinthidwa pa Julayi 5, 2018. Idapezeka pa Julayi 30, 2019.