Chediak-Higashi chirwere

Chediak-Higashi syndrome chirwere chisingawanzoitika chemuviri uye huta masisitimu. Inosanganisira bvudzi rakachenuruka, maziso, uye ganda.

Chediak-Higashi syndrome inopfuudzwa kuburikidza nemhuri (nhaka). Iyo autosomal yakawandisa chirwere. Izvi zvinoreva kuti vese vabereki vatakuri veiyo isiri-inoshanda kopi yegene. Mubereki wega wega anofanirwa kupfuudza yavo isingashande geni kumwana kuti varatidze zviratidzo zvechirwere.

Kukanganisa kwakawanikwa mu LYST (inonziwo CHS1jeni. Iko kukanganisa kukuru muchirwere ichi kunowanikwa mune zvimwe zvinhu zvinowanzo kuve mumasero eganda uye mamwe machena masero eropa.

Vana vane chirwere ichi vanogona kuve ne:

• Bvudzi resirivha, maziso akachena-mavara (albinism)
• Kuwedzera kwehutachiona mumapapu, ganda, uye mucous membranes
• Kufamba kweziso kwaJerky (nystagmus)

Kutapukirwa kwevana vane hutachiona vane mamwe mavhairasi, akadai seEpstein-Barr virus (EBV), kunogona kukonzera chirwere chinotyisidzira hupenyu chakafanana nekenza yeropa lymphoma.

Zvimwe zviratidzo zvinogona kusanganisira:

• Kupera kwekuona
• Urema hwekuziva
• Tsvina kushaya simba
• Matambudziko etsinga mumakumbo (peripheral neuropathy)
• Mhezi yekubuda ropa kana kupwanya kuri nyore
• Unhu
• Kudedera
• Kufenda
• Kunzwisisa kune yakajeka mwenje (photophobia)
• Kufamba usina kugadzikana (ataxia)

Anopa hutano anoita bvunzo dzepanyama. Izvi zvinogona kuratidza zviratidzo zvekuputika kwepleen kana chiropa kana jaundice.

Miedzo inogona kuitwa inosanganisira:

• Yakazara kuverenga kweropa, kusanganisira chena masero eropa kuverenga
• Ropa platelet kuverenga
• Ropa tsika uye kuzora
• Brain MRI kana CT
• EEG
• EMG
• Tsinga conduction bvunzo

Iko hakuna chaiyo kurapwa kweChediak-Higashi syndrome. Bone marrow transplants akaitwa kutanga kwechirwere anoita kunge akabudirira mune akati wandei varwere.

Mishonga inorwisa mabhakitiriya inoshandiswa kurapa hutachiona. Antiviral zvinodhaka, zvakadai seacyclovir, uye chemotherapy zvinodhaka zvinowanzo shandiswa muchikamu chinokurumidza chechirwere. Ropa uye platelet kuwedzerwa zvinopihwa sekudikanwa. Kuvhiya kunogona kudikanwa kubvisa mapundu mune zvimwe zviitiko.

National Sangano reRare Dambudziko (NORD) - rarediseases.org

Rufu runowanzoitika mumakore ekutanga gumi ehupenyu, kubva kune refu-temu (chisingaperi) hutachiona kana chirwere chinokurumidza chinoguma nechirwere che lymphoma-senge chirwere. Zvisinei, vamwe vana vakawirwa nedambudziko vakapona kwenguva yakareba.

Zvinetso zvinogona kusanganisira:

• Kakawanda kutapukirwa kunosanganisira mamwe marudzi ebhakitiriya
• Lymphoma-senge kenza inokonzerwa nehutachiona hutachiona senge EBV
• Kufa kwekutanga

Fonera mupiki wako kana uine nhoroondo yemhuri yechirwere ichi uye uri kuronga kuita vana.

Taura nemupi wako kana mwana wako achiratidza zviratidzo zveChediak-Higashi syndrome.

Genetic counselling inokurudzirwa usati wava nepamuviri kana uine nhoroondo yemhuri yaChediak-Higashi.

Zvipfeko TD. Kukanganiswa kwepagococyte basa. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chap 156.

Dinauer MC, Anovhara TD. Kukanganiswa kwepagococyte basa. Muna: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Misimboti uye Maitiro. 7th ed. Philadelphia, PA: Elsevier; 2018: chitsiko 50.

Toro C, Nicoli ER, Malicdan MC, Adams DR, Introne WJ. Chediak-Higashi chirwere. Gene Ongororo. 2015. PMID: 20301751 www.ncbi.nlm.nih.gov/pubmed/20301751. Yakagadziridzwa Chikunguru 5, 2018. Yakasvika muna Chikunguru 30, 2019.