I-Chediak-Higashi syndrome

I-Chediak-Higashi syndrome yisifo esingajwayelekile samasosha omzimba nezinzwa. Kubandakanya izinwele ezinombala okhanyayo, amehlo nesikhumba.

IChediak-Higashi syndrome idluliselwa emindenini (ezuzwe njengefa). Kuyisifo se-autosomal recessive. Lokhu kusho ukuthi bobabili abazali bangabathwali bekhophi elingasebenzi lofuzo. Umzali ngamunye kufanele adlulisele ufuzo olungasebenziyo enganeni ukuze bakhombise izimpawu zesifo.

Kutholakale amaphutha ku- I-LYST (obizwa nangokuthi CHS1) isakhi sofuzo. Isici esiyinhloko kulesi sifo sitholakala ezintweni ezithile ngokuvamile eziba khona kumaseli esikhumba kanye namaseli athile amhlophe egazi.

Izingane ezinalesi simo zingaba nazo:

• Izinwele zesiliva, amehlo anombala okhanyayo (albinism)
• Ukwanda kwezifo emaphashini, esikhunjeni nasezinhlakeni zomlomo
• Ukunyakaza kwamehlo kukaJerky (nystagmus)

Ukutheleleka kwezingane ezithintekile ezinamagciwane athile, njenge-Epstein-Barr virus (EBV), kungadala ukugula okusongela impilo okufana nomdlavuza wegazi i-lymphoma.

Ezinye izimpawu zingafaka:

• Ukwehla kombono
• Ukukhubazeka kwengqondo
• Ubuthakathaka bemisipha
• Izinkinga zemizwa emilenzeni (i-peripheral neuropathy)
• Ukopha ngamakhala noma ukulimaza okulula
• Ubudikadika
• Ukuthuthumela
• Ukuquleka
• Ukuzwela ekukhanyeni okukhanyayo (photophobia)
• Ukuhamba okungazinzile (ataxia)

Umhlinzeki wezokunakekelwa kwempilo uzokwenza ukuhlolwa komzimba. Lokhu kungakhombisa izimpawu zesibindi sokuvuvukala noma isibindi noma i-jaundice.

Ukuhlolwa okungenziwa kufaka phakathi:

• Qedela ukubalwa kwegazi, kufaka phakathi isibalo segazi elimhlophe
• Ukubalwa kweplatelet yegazi
• Isiko legazi nokugcoba
• I-Brain MRI noma i-CT
• I-EEG
• EMG
• Ukuhlolwa kokuqhutshwa kwemizwa

Akukho ukwelashwa okuqondile kwe-Chediak-Higashi syndrome. Ukufakelwa komnkantsha wethambo okwenziwe ekuqaleni kwalesi sifo kubonakala kuphumelele ezigulini eziningana.

Ama-antibiotic asetshenziselwa ukwelapha izifo. Imithi elwa namagciwane, njenge-acyclovir, ne-chemotherapy izidakamizwa zivame ukusetshenziswa esigabeni esisheshayo sesifo. Ukumpontshelwa igazi kanye neplatelet kunikezwa lapho kudingeka. Ukuhlinzwa kungadingeka ukukhipha amathumba kwezinye izimo.

Inhlangano Kazwelonke Yezinkinga Ezingajwayelekile (NORD) - rarediseases.org

Ukufa kuvame ukwenzeka eminyakeni eyishumi yokuqala yokuphila, kusuka ezifweni zesikhathi eside (ezingapheli) noma izifo ezisheshayo okuholela ekuguleni okufana ne-lymphoma. Kodwa-ke, ezinye izingane ezithintekile zisinde isikhathi eside.

Izinkinga zingafaka:

• Ukutheleleka njalo okubandakanya izinhlobo ezithile zamagciwane
• Umdlavuza ofana ne-Lymphoma obangelwa ukutheleleka ngegciwane njenge-EBV
• Ukufa ngaphambi kwesikhathi

Shayela umhlinzeki wakho uma unomlando womndeni walesi sifo futhi uhlela ukuba nezingane.

Khuluma nomhlinzeki wakho uma ingane yakho ikhombisa izimpawu zeChediak-Higashi syndrome.

Ukwelulekwa ngofuzo kunconywa ngaphambi kokukhulelwa uma unomlando womndeni kaChediak-Higashi.

Izembozo TD. Ukuphazamiseka komsebenzi we-phagocyte. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 156.

UDinauer MC, uCoates TD. Ukuphazamiseka komsebenzi we-phagocyte. Ku: Hoffman R, Benz EJ, Silberstein LE, et al, ama-eds. I-Hematology: Izimiso Eziyisisekelo Nokuzijwayeza. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2018: isahluko 50.

UToro C, Nicoli ER, Malicdan MC, Adams DR, Introne WJ. I-Chediak-Higashi syndrome. Ukubuyekezwa kwe-Gene. 2015. PMID: 20301751 www.ncbi.nlm.nih.gov/pubmed/20301751. Kubuyekezwe uJulayi 5, 2018. Kufinyelelwe ngoJulayi 30, 2019.