Isifo sikaChediak-Higashi

Isifo seChediak-Higashi sisifo esinqabileyo kwiinkqubo zomzimba kunye noxinzelelo. Kubandakanya iinwele eziluthuthu, amehlo kunye nolusu.

Isifo seChediak-Higashi sidluliselwa kwiintsapho (ezizuzwe njengelifa). Sisifo esihamba sodwa esinezixhobo ezizenzekelayo. Oku kuthetha ukuba bobabini abazali bangabathwali bekopi engasebenziyo yemfuza. Umzali ngamnye kufuneka adlulisele uhlobo lwazo olungasebenziyo emntwaneni ukuze abonise iimpawu zesi sifo.

Iziphene zifunyenwe kwifayile ye- I-LYST (ekwabizwa ngokuba CHS1) Uhlobo. Isiphene esiphambili kwesi sifo sifumaneka kwizinto ezithile eziqhelekileyo ezikhoyo kwiiseli zolusu kunye neeseli ezithile ezimhlophe zegazi.

Abantwana abakule meko banokuba:

• Izinwele zesilivere, amehlo anombala okhanyayo (albinism)
• Ukonyuka kosuleleko emiphungeni, ulusu kunye neembumba zangaphakathi
• Ukuhamba kwamehlo kukaJerky (nystagmus)

Usulelo lwabantwana abachaphazelekayo abaneentsholongwane ezithile, ezinjenge-Epstein-Barr virus (EBV), kunokubangela isifo esisongela ubomi esifana nomhlaza wegazi lymphoma.

Ezinye iimpawu zingabandakanya:

• Ukwehla kombono
• Ukukhubazeka kwengqondo
• Ubuthathaka bemisipha
• Iingxaki zemithambo-luvo emilenzeni (peripheral neuropathy)
• Ukuphuma kweempumlo okanye ukugruzuka ngokulula
• Ubumdaka
• Ukungcangcazela
• Ukuxhuzula
• Ubuntununtunu ekukhanyeni okukhanyayo (photophobia)
• Ukuhamba okungazinzanga (ataxia)

Umboneleli wezempilo uya kwenza uvavanyo lomzimba. Oku kunokubonisa iimpawu zokudumba kwesibindi okanye isibindi okanye i-jaundice.

Uvavanyo olunokwenziwa lunokubandakanya:

• Gcwalisa ubalo lwegazi, kubandakanya ubalo lweeseli ezimhlophe
• Ubalo lweplatelet yegazi
• Inkcubeko yegazi kunye ne-smear
• I-Brain MRI okanye i-CT
• I-EEG
• EMG
• Uvavanyo lokuqhutywa kwemithambo

Akukho lonyango oluthile lweChediak-Higashi syndrome. Ukufakelwa komongo wethambo okwenziwe kwangethuba kwesi sifo kubonakala ngathi kuye kwaphumelela kwizigulana ezininzi.

Amayeza okubulala iintsholongwane asetyenziselwa ukunyanga usulelo. Amachiza antiviral, njengeacyclovir, kunye namachiza e-chemotherapy ahlala esetyenziswa kwinqanaba elikhawulezayo lesi sifo. Igazi kunye notofelo-gazi zinikezelwa xa kufuneka njalo. Utyando lunokufuneka ukukhupha amathumba kwezinye iimeko.

Umbutho weSizwe weengxaki zoRare (NORD) -rarediseases.org

Ukufa kuhlala kwenzeka kwiminyaka eli-10 yokuqala yobomi, ukusuka kusulelo lwexesha elide (olungapheliyo) okanye isifo esikhawulezayo esikhokelela kukugula okufana ne-lymphoma. Nangona kunjalo, abanye abantwana abachaphazelekayo baphila ixesha elide.

Iingxaki zinokubandakanya:

• Ukusuleleka rhoqo kubandakanya iintlobo ezithile zebacteria
• Umhlaza ofana ne-Lymphoma obangelwa zizifo zentsholongwane njenge-EBV
• Ukufa kwangoko

Fowunela umboneleli wakho ukuba unembali yosapho kwesi sifo kwaye uceba ukuba nabantwana.

Thetha nomboneleli wakho ukuba umntwana wakho ubonakalisa iimpawu zeChediak-Higashi syndrome.

Ukucebisa ngemfuza kuyacetyiswa ngaphambi kokuba ukhulelwe ukuba unembali yosapho kaChediak-Higashi.

Iingubo zeTD. Ukuphazamiseka komsebenzi we-phagocyte. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahl. 156.

UDinauer MC, uCoates TD. Ukuphazamiseka komsebenzi we-phagocyte. Ku: Hoffman R, Benz EJ, Silberstein LE, et al, ii-eds. I-Hematology: Imigaqo esisiseko kunye nokuziqhelanisa. Umhla wesi-7. IPhiladelphia, PA: Elsevier; I-2018: isahluko 50.

Toro C, Nicoli ER, Malicdan MC, Adams DR, Introne WJ. Isifo sikaChediak-Higashi. Uphengululo lweGene. I-PMID: 20301751 www.ncbi.nlm.nih.gov/pubmed/20301751. Ukuhlaziywa ngoJulayi 5, 2018. Ifikeleleke ngoJulayi 30, 2019.