Phokolo ea mali ea Fanconi

Phokolo ea mali ea Fanconi ke lefu le sa tloaelehang le fetisoang ke malapa (a futsitsoeng) a amang haholo moko oa masapo. E fella ka tlhahiso e fokotsehileng ea mefuta eohle ea lisele tsa mali.

Ena ke mofuta o tloaelehileng haholo oa mali oa aplastic anemia.

Fanconi anemia e fapane le Fanconi syndrome, lefu le sa tloaelehang la liphio.

Phokolo ea mali ea Fanconi e bakoa ke lefutso le sa tloaelehang le senyang lisele, le li sitisang ho lokisa DNA e senyehileng.

Ho rua phokolo ea mali ea Fanconi, motho o tlameha ho fumana kopi e le 'ngoe ea lefutso le sa tloaelehang ho motsoali ka mong.

Boemo bona hangata bo fumanoa ho bana ba pakeng tsa lilemo tse 3 ho isa ho tse 14.

Batho ba nang le phokolo ea mali ea Fanconi ba na le linomoro tse tlase ho feta tse tloaelehileng tsa lisele tse tšoeu tsa mali, lisele tse khubelu tsa mali le liplatelete (lisele tse thusang mali ho koala).

Ha ho na lisele tse tšoeu tsa mali tse lekaneng tse ka lebisang tšoaetsong. Ho haella ha lisele tse khubelu tsa mali ho ka baka mokhathala (phokolo ea mali).

Palo ea liplatelete e tlase ho feta e tloaelehileng e ka lebisa ho tsoa mali a mangata.

Batho ba bangata ba nang le phokolo ea mali ea Fanconi ba na le a mang a matšoao ana:

• Pelo e sa tloaelehang, matšoafo le tšilo ea lijo
• Mathata a masapo (haholo-holo letheka, mokokotlo kapa likhopo) a ka baka mokokotlo o kobehileng (scoliosis)
• Liphetoho mmala oa letlalo, joalo ka libaka tse lefifi tsa letlalo, tse bitsoang café au lait spots, le vitiligo
• Bokooa ka lebaka la litsebe tse sa tloaelehang
• Mathata a mahlo kapa a mahlo
• Liphio tse sa kang tsa theha hantle
• Mathata a matsoho le matsoho, joalo ka ho lahleha, ho eketsa kapa ho sa hlophisehe hantle, mathata a matsoho le lesapo le ka letsohong le ka tlase, le lesapo le lenyane kapa le lahlehileng ka pele
• Bolelele bo bolelele
• Hlooho e nyane
• Lisepa tse nyane le liphetoho tsa thobalano

Matšoao a mang a ka bang teng:

• Ho hloleha ho atleha
• Bokooa ba ho ithuta
• Boima ba 'mele bo tlaase
• Bokooa ba kelello

Liteko tse tloaelehileng bakeng sa phokolo ea mali ea Fanconi li kenyelletsa:

• Tlhahiso ea moko oa masapo
• Palo e felletseng ea mali (CBC)
• Liteko tsa nts'etsopele
• Meriana e kenyellelitsoeng sampoleng ea mali ho hlahloba tšenyo ea li-chromosome
• X-ray ea letsoho le lithuto tse ling tsa ho nka litšoantšo (CT scan, MRI)
• Teko ea kutlo
• Ho ngola litlhaku tsa HLA (ho fumana bafani ba tšoanang le moko oa masapo)
• Ultrasound ea liphio

Bakhachane ba ka ba le amniocentesis kapa chorionic vampous sampling ho fumana boemo ba ngoana oa bona ea e-so hlahe.

Batho ba nang le liphetoho tse bonolo ho isa ho tse itekanetseng tsa lisele tsa mali ba sa hlokeng tšelo ea mali ba ka hloka feela ho hlahlojoa khafetsa le ho hlahlojoa palo ea mali. Mofani oa tlhokomelo ea bophelo o tla beha leihlo haufi-ufi le motho bakeng sa mofetše o mong. Tsena li ka kenyelletsa kankere ea mali kapa mofetše oa hlooho, molala kapa tsamaiso ea ho ntša metsi.

Meriana e bitsoang lintlha tsa kholo (joalo ka erythropoietin, G-CSF, le GM-CSF) e ka ntlafatsa palo ea mali ka nakoana.

Ho kenyelletsa 'mele oa masapo ho ka folisa mathata a palo ea mali a Fanconi anemia. (Mofani ea molemo ka ho fetisisa oa moko oa masapo ke moena kapa khaitseli eo mofuta oa hae oa lisele o tšoanang le motho ea anngoeng ke phokolo ea mali ea Fanconi.)

Batho ba atlehileng ho kenella mokong oa masapo ba ntse ba hloka ho hlahlojoa khafetsa ka lebaka la kotsi ea likankere tse ling.

Phekolo ea Hormone e kopantsoeng le tekanyetso e tlase ea li-steroid (joalo ka hydrocortisone kapa prednisone) e laeloa ho ba se nang mofani oa moko oa masapo. Batho ba bangata ba arabela kalafong ea lihormone. Empa e mong le e mong ea nang le bothata bona o tla mpefala kapele ha meriana e emisoa. Maemong a mangata, meriana ena e qetella e emisitse ho sebetsa.

Litlhare tse ling li ka kenyelletsa:

• Lithibela-mafu (mohlomong li fanoa ka mothapo) ho alafa mafu
• Litšelo tsa mali ho alafa matšoao ka lebaka la lipalo tse tlase tsa mali
• Vaksine ea motho ea papilloma virus

Batho ba bangata ba nang le boemo bona ba etela ngaka khafetsa, ba khethehile ho phekola:

• Mathata a mali (hematologist)
• Maloetse a amanang le litšoelesa (endocrinologist)
• Maloetse a mahlo (ophthalmologist)
• Maloetse a masapo (orthopedist)
• Lefu la liphio (nephrologist)
• Maloetse a amanang le litho tsa botšehali le matsoele (gynecologist)

Litefiso tsa pholoho li fapana ho ea ka batho. Ponahalo e mpe ho ba nang le lipalo tse tlase tsa mali. Kalafo e ncha le e ntlafalitsoeng, joalo ka ho fetisoa ha moko oa masapo, e kanna ea ntlafatsa bophelo.

Batho ba nang le phokolo ea mali ea Fanconi ba na le monyetla oa ho hlahisa mefuta e mengata ea mathata a mali le mofetše. Tsena li ka kenyelletsa leukemia, myelodysplastic syndrome, le mofetše oa hlooho, molala kapa tsamaiso ea ho ntša metsi.

Basali ba nang le phokolo ea mali ea Fanconi ba emeng ba lokela ho shebeloa ka hloko ke setsebi. Basali ba joalo hangata ba hloka litšelo nakong eohle ea bokhachane.

Banna ba nang le phokolo ea mali ea Fanconi ba fokotsehile.

Mathata a phokolo ea mali ea Fanconi a ka kenyelletsa:

• Ho hloleha ha moko oa masapo
• Kankere ea mali
• Kankere ea sebete (e kotsi le e kotsi)

Malapa a nang le nalane ea boemo bona a ka ba le tlhabollo ea lefutso ho utloisisa hantle kotsi ea bona.

Ho entoa ho ka fokotsa mathata a itseng, ho kenyelletsa pneumococcal pneumonia, hepatitis le tšoaetso ea varicella.

Batho ba nang le phokolo ea mali ea Fanconi ba lokela ho qoba lintho tse bakang mofets'e (carcinogens) mme ba hlahlojoe khafetsa ho hlahloba mofetše.

Phokolo ea mali ea Fanconi; Phokolo ea mali - Fanconi's

• Likarolo tse entsoeng tsa mali

Dror Y. Lefa la masapo a ho hloleha ha moko oa masapo. 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 29.

Lissauer T, mathata a Carroll W. Haematological. Ka: Lissauer T, Carroll W, bahlophisi. Illustrated Textbook of Paediatrics. La 5th. Philadelphia, PA: Elsevier; 2018: khaolo ea 23.

Vlachos A, Lipton JM. Ho hloleha ha moko oa masapo. Ka: Lanzkowsky P, Lipton JM, Fish JD, bahlophisi. Lanzkowsky's Manual of Pediatric Hematology le Oncology. La 6th. Philadelphia, PA: Elsevier; 2016: khaolo ea 8.