Qhov sib txawv tseem ceeb ntawm Fanconi anemia thiab Fanconi syndrome yog Fanconi anemia cuam tshuam rau cov pob txha pob txha, txo qis kev tsim tawm ntawm txhua hom qe ntshav, thaum Fanconi syndrome cuam tshuam rau lub raum, ua rau tsis txaus rov nqus hauv lub raum ze ze. tubules.
Fanconi anemia thiab Fanconi syndrome yog ob yam mob uas muaj npe tom qab Dr Guido Fanconi. Guido Fanconi yog ib tug kws kho mob Swiss uas yug hauv 1892 hauv Psoschiavo, ib lub zos me me hauv Canton of Grisons. Nws raug suav hais tias yog ib tus kws kho mob zoo tshaj plaws ntawm txhua lub sijhawm. Nws kuj yog ib tug ntawm cov founders ntawm niaj hnub pediatrics. Muaj ntau yam kab mob hu ua Dr Guido Fanconi. Xyoo 1927, nws tau piav qhia txog keeb kwm ntawm Fanconi anemia thawj zaug. Fanconi syndrome, ntawm qhov tod tes, tau piav qhia los ntawm tus kws tshawb fawb hu ua Abdelhalden hauv xyoo 1903. Txawm li cas los xij, Fanconi qhia Fanconi syndrome nrog cov ntaub ntawv txhawb nqa ntxiv rau xyoo 1936. Thaum kawg, tus kab mob tuaj yeem hu ua Fanconi syndrome.
Fanconi Anemia yog dab tsi?
Fanconi anemia yog ib qho tsis tshua muaj tshwm sim ntawm cov pob txha pob txha tsis ua haujlwm. Kwv yees li 2000 tus neeg mob tau sau tseg hauv cov ntaub ntawv kho mob. Nws yog ib yam kab mob caj ces tshwm sim vim qhov tsis zoo ntawm cov lus teb rau DNA puas. Fanconi anemia yog ib qho autosomal recessive genetic disorder. Ob qho kev hloov pauv yuav tsum muaj nyob rau hauv thiaj li yuav ua rau Fanconi anemia hauv cov neeg mob. 2% ntawm cov neeg mob yog vim X-txuas recessive mob, txhais tau hais tias cov mutated alleles muaj nyob rau hauv X chromosome. Txog tam sim no, cov kws tshawb fawb tau tshawb pom 21 FA lossis FA zoo li cov noob. Qee tus yog FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCF, thiab lwm yam. Cov noob no yog DNA kho cov noob. Tus neeg nqa khoom zaus hauv Ashkenazi Jewish yog ib qho ntawm 90.
Daim duab 01: Fanconi Anemia
Fanconi anemia feem ntau tshwm sim los ntawm cov pob txha tsis ua haujlwm, cov qog nqaij hlav, thiab kev loj hlob txawv txav. Kev kuaj mob tuaj yeem ua tau los ntawm kev tawm tswv yim txog caj ces thiab kuaj caj ces. Cov kev kho mob muaj xws li androgens thiab hematopoietic (ntshav cell) loj hlob yam rau cov pob txha tsis ua hauj lwm, pob txha pob txha hloov, thiab mitomycin C rau cov qog nqaij hlav.
Fanconi Syndrome yog dab tsi?
Fanconi syndrome yog ib qho kev mob tshwm sim los yog kis tau uas qee yam tshuaj nkag mus rau hauv cov ntshav los ntawm ob lub raum tso rau hauv cov zis. Nws yog ib qho mob uas ua rau muaj qhov tsis txaus rov qab nqus ntawm lub raum raum tubules. Fanconi Syndrome cuam tshuam rau qhov sib thooj convoluted tubule, uas yog thawj feem ntawm lub tubule uas ua cov kua dej tso zis thaum nws tau lim los ntawm glomerulus. Nws kuj tuaj yeem cuam tshuam rau cov tubule ncaj nraim uas ua rau qis qis ntawm lub voj ntawm Henle.
Daim duab 02: Fanconi Syndrome
Kev hloov pauv tshwj xeeb hauv HNF4A gene encoding transcription factor tuaj yeem ua rau Fanconi anemia. Lwm yam kab mob xws li cystinosis, Wilson's disease, tyrosinemia, Lowe syndrome, galactosemia, hereditary fructose intolerance kuj tuaj yeem ua rau Fanconi syndrome. Nws tuaj yeem tau txais los ntawm tetracycline, antiviral tenofovir, didanosine, thiab lead lom. Ntxiv mus, Fanconi syndrome tuaj yeem kis tau vim lwm yam mob xws li ntau yam myeloma, monoclonal gammopathy thiab autoimmune disorders. Cov tsos mob muaj xws li polyuria, kev loj hlob tsis ua hauj lwm, acidosis, hypokalemia, hyperchloremia, glycosuria, proteinuria, hyperuricosuria, thiab lwm yam. Kev kuaj mob yog los ntawm cov zis niaj hnub. Kev kho mob ntawm cov menyuam yaus uas muaj tus mob Fanconi feem ntau suav nrog kev hloov cov tshuaj uas ploj hauv cov zis, xws li kua thiab bicarbonate
Dab tsi zoo sib xws ntawm Fanconi Anemia thiab Fanconi Syndrome?
- Fanconi anemia thiab Fanconi syndrome yog ob yam mob uas muaj npe tom qab Dr Guido Fanconi.
- Ob qho xwm txheej tuaj yeem ua tau qub.
- Ob qho xwm txheej tuaj yeem pom hauv cov menyuam yaus.
- Lawv yog cov mob kho tau.
Qhov txawv ntawm Fanconi Anemia thiab Fanconi Syndrome yog dab tsi?
Fanconi anemia cuam tshuam rau cov pob txha pob txha uas txo qis kev tsim tawm ntawm txhua hom qe ntshav, thaum Fanconi syndrome cuam tshuam rau lub raum uas ua rau tsis txaus rov nqus hauv lub raum tubules. Yog li, qhov no yog qhov sib txawv tseem ceeb ntawm Fanconi anemia thiab Fanconi syndrome. Tsis tas li ntawd, Fanconi anemia yog ib qho mob tshwm sim thaum Fanconi Syndrome tuaj yeem yog tus mob los yog tau txais kev kho mob.
Cov duab hauv qab no qhia qhov sib txawv ntawm Fanconi anemia thiab Fanconi syndrome nyob rau hauv daim ntawv tabular rau ib sab sib piv.
Summary – Fanconi Anemia vs Fanconi Syndrome
Fanconi anemia thiab Fanconi syndrome yog ob yam mob uas tsis tshua muaj. Fanconi anemia cuam tshuam rau pob txha pob txha. Tus kab mob no txo qis kev tsim tawm ntawm txhua hom qe ntshav. Fanconi syndrome cuam tshuam rau lub raum. Nws ua rau qhov tsis txaus rov nqus hauv lub raum lub raum tubules. Fanconi anemia yog ib yam kab mob uas tau tshwm sim. Fanconi syndrome tuaj yeem tau txais los yog tau txais. Yog li, qhov no yog cov ntsiab lus ntawm qhov sib txawv ntawm Fanconi anemia thiab Fanconi syndrome.
