Chediak-Higashi lefu

Chediak-Higashi syndrome ke lefu le sa tloaelehang la boits'ireletso ba mmele le methapo. E kenyelletsa moriri, mahlo le letlalo le 'mala o mosehla.

Chediak-Higashi syndrome e fetisoa ke malapa (a futsitsoeng). Ke lefu la autosomal le fetelletseng. Sena se bolela hore batsoali ka bobeli ke bajari ba kopi e sa sebetseng ea lefutso. Motsoali e mong le e mong o tlameha ho fetisetsa lefutso la hae le sa sebetseng ho ngoana hore a bontše matšoao a lefu lena.

Liphoso li fumanoe ho LYST (hape e bitsoa CHS1lefutso. Bothata bo ka sehloohong ba lefu lena bo fumanoa linthong tse ling tse atisang ho ba teng lisele tsa letlalo le lisele tse itseng tse tšoeu tsa mali.

Bana ba nang le boemo bona ba ka ba le:

• Moriri oa silevera, mahlo a 'mala o khanyang (albinism)
• Keketseho ea tšoaetso matšoafong, letlalo le mamina
• Mehato ea mahlo ea Jerky (nystagmus)

Tšoaetso ea bana ba anngoeng ke livaerase tse ling, joalo ka Epstein-Barr virus (EBV), e ka baka lefu le sokelang bophelo le ts'oanang le mofetše oa mali lymphoma.

Matšoao a mang a kenyeletsa:

• Pono e fokotsehileng
• Bokooa ba kelello
• Bofokoli ba mesifa
• Mathata a methapo ea maoto le matsoho (peripheral neuropathy)
• Ho tsoa mali kapa ho longoa habonolo
• Boikitlaetso
• Ho thothomela
• Ho oa
• Ho ba le kutlo ho leseli le khanyang (photophobia)
• Ho tsamaea ka mokhoa o sa tsitsang (ataxia)

Mofani oa tlhokomelo ea bophelo o tla etsa tlhahlobo ea 'mele. Sena se ka bonts'a matšoao a ho ruruha ha spleen kapa sebete kapa jaundice.

Liteko tse ka etsoang li kenyelletsa:

• Palo e felletseng ea mali, ho kenyeletsoa palo e tšoeu ea lisele tsa mali
• Palo ea liplatelete tsa mali
• Tloaelo ea mali le smear
• MRI ea Boko kapa CT
• EEG
• EMG
• Liteko tsa ho tsamaisa methapo

Ha ho na kalafo e khethehileng ea lefu la Chediak-Higashi. Ho fetisoa ha moko oa masapo ho entsoeng pele ho lefu lena ho bonahala ho atlehile ho bakuli ba 'maloa.

Lithibela-mafu li sebelisetsoa ho alafa mafu. Lithethefatsi tse thibelang likokoana-hloko tse kang acyclovir le chemotherapy li sebelisoa khafetsa karolong e potlakileng ea lefu lena. Ho tšeloa mali le liplatelete ho fanoa ha ho hlokahala. Ho ka 'na ha hlokahala hore ho buuoe ho ntša makhala maemong a mang.

Mokhatlo oa Naha oa Mathata a Rare (NORD) - rarediseases.org

Lefu hangata le hlaha lilemong tsa pele tsa bophelo, ho tsoa ho tšoaetso ea nako e telele (e sa foleng) kapa mafu a potlakileng a lebisang ho bokuli bo kang lymphoma. Leha ho le joalo, bana ba bang ba anngoeng ke seo ba phela nako e teletsana.

Mathata a ka kenyelletsa:

• Khafetsa tšoaetso e amang mefuta e meng ea libaktheria
• Kankere e kang Lymphoma e bakoang ke tšoaetso ea vaerase e kang EBV
• Lefu la pele

Bitsa mofani oa hau haeba u na le nalane ea lelapa ea lefu lena mme o ntse o rera ho ba le bana.

Bua le mofani oa hau haeba ngoana oa hau a bontša matšoao a lefu la Chediak-Higashi.

Ho eletsoa pele ho ima haeba u na le nalane ea lelapa ea Chediak-Higashi.

Liaparo tsa TD. Mathata a mosebetsi oa phagocyte. Ka: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, bahlophisi. Buka ea Nelson ea Pediatrics. La 21 Ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 156.

Dinauer MC, Liaparo tsa TD. Mathata a mosebetsi oa phagocyte. Ka: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Melao-motheo le Tloaelo ea Motheo. La 7th. Philadelphia, PA: Elsevier; 2018: khaolo ea 50.

Toro C, Nicoli ER, Malicdan MC, Adams DR, Introne WJ. Chediak-Higashi lefu. Litlhahlobo tsa Gene. PMID: 20301751 www.ncbi.nlm.nih.gov/pubmed/20301751. E ntlafalitsoe ka la 5 Phupu 2018. E fihlile ka la 30 Phupu, 2019.