Chediak-Higashi syndrome

Chediak-Higashi syndrome yog ib yam mob uas tsis tshua muaj kab mob hauv lub cev thiab cov leeg hlwb. Nws cuam tshuam cov xim plaub hau, qhov muag thiab tawv nqaij.

Chediak-Higashi syndrome tau dhau los ntawm cov tsev neeg (tau txais los). Nws yog tus kabmob autosomal recessive. Qhov no txhais tau hais tias ob leeg niam txiv yog tus nqa daim ntawv tsis ua haujlwm. Txhua tus niam txiv yuav tsum faib lawv cov noob tsis ua haujlwm rau tus menyuam rau lawv kom pom cov tsos mob ntawm tus kabmob.

Cov tsis zoo tau pom nyob hauv lub npe NKAUJ (tseem hu ua CHS1) noob. Thawj qhov uas tsis zoo hauv tus kab mob no yog pom nyob hauv qee cov tshuaj feem ntau muaj nyob hauv cov tawv nqaij thiab qee cov qe ntshav dawb.

Cov menyuam yaus uas muaj yam kabmob no yuav muaj:

• Nyiaj plaub hau, lub qhov muag pom xim (albinism)
• Kev muaj mob ntau ntxiv rau ntawm lub ntsws, tawv nqaij, thiab qog ua kua
• Jerky qhov muag taw (nystagmus)

Kev kis mob rau cov menyuam yaus muaj qee yam kab mob, xws li tus kab mob Epstein-Barr (EBV), tuaj yeem ua rau muaj kev phom sij rau lub neej zoo li cov ntshav qog nqaij hlav cancer.

Lwm cov tsos mob tuaj yeem suav nrog:

• Tsis pom kev zoo
• Kev txawj ntse
• Nqaij tsis muaj zog
• Cov hlab hauv teeb meem hauv nqua (peripheral neuropathy)
• Ntswg lossis txhaws yooj yim
• Looj
• Qhuas
• Qaug dab peg
• Kev nkag siab ntawm lub teeb ci ntsa iab (photophobia)
• Taug kev tsis khov (ataxia)

Tus kws kho mob yuav kuaj xyuas lub cev. Qhov no yuav pom muaj cov tsos mob o o lossis lub siab lossis mob tawv nqaij daj.

Kev ntsuam xyuas uas yuav ua tau muaj xws li:

• Ua kom tiav cov ntshav suav, suav nrog cov qe ntshav dawb
• Ntshav platelet suav
• Cov kab lis kev cai ntshav thiab pleev
• Lub Hlwb MRI lossis CT
• EEG
• EMG
• Kev soj ntsuam leeg

Tsis muaj kev kho tshwj xeeb rau Chediak-Higashi syndrome. Hloov cev pob txha los ntshav ua thaum ntxov pom tus kab mob ua tiav rau ntau tus neeg mob.

Cov tshuaj tua kab mob yog siv los kho tus kab mob. Cov tshuaj tiv thaiv kab mob, xws li acyclovir, thiab kev siv tshuaj kho mob feem ntau siv rau hauv cov txheej txheem nrawm ntawm tus kab mob. Muab ntshav thiab ntshav rau ntshav yog muab raws li xav tau. Kev phais mob tej zaum yuav xav tau kom tshem cov qog hauv qee kis.

Lub Koom Haum Hauv Lub Tebchaws rau Cov Tsis Txaus (NORD) - rarediseases.org

Kev tuag feem ntau tshwm sim hauv thawj 10 xyoo ntawm lub neej, los ntawm kev mob mus sij hawm ntev (mob) los yog mob nrawm nrawm uas ua rau mob lymphoma zoo li. Txawm li cas los xij, qee cov menyuam yaus cuam tshuam muaj sia nyob ntev dua.

Teeb meem yuav suav nrog:

• Cov mob uas keev muaj feem nrog qee hom kab mob
• Lymphoma-zoo li mob qog ua rau mob los ntawm khaub thuas kis xws li EBV
• Kev tuag thaum ntxov

Hu rau koj tus kws kho mob yog tias koj muaj keeb kwm tsev neeg ntawm qhov kev tsis zoo no thiab koj tau npaj yuav muaj me nyuam.

Tham nrog koj tus kws kho mob yog tias koj tus me nyuam muaj cov tsos mob ntawm Chediak-Higashi syndrome.

Kev tawm tswv yim rau caj ces yog pom zoo ua ntej muaj menyuam yog tias koj muaj tsev neeg keeb kwm ntawm Chediak-Higashi.

Coates TD. Kev cuam tshuam ntawm phagocyte muaj nuj nqi. Hauv: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Phau Ntawv ntawm PediatricsCov. 21st ed. Philadelphia, PA: Elsevier; 2020: chap 156.

Dinauer MC, Coates TD. Kev cuam tshuam ntawm phagocyte muaj nuj nqi. Hauv: Hoffman R, Benz EJ, Silberstein LE, li al, eds. Hematology: Qhov Ntsiab Cai thiab Kev Coj UaCov. 7 tus ed. Philadelphia, PA: Elsevier; 2018: chap 50.

Toro C, Nicoli ER, Malicdan MC, Adams DR, Introne WJ. Chediak-Higashi syndrome. Kev Rov Ntsuam Xyuas GeneCov. 2015. PMID: 20301751 www.ncbi.nlm.nih.gov/pubmed/20301751. Hloov tshiab Lub Xya Hli 5, 2018. Nkag mus Lub Xya Hli 30, 2019.