Strübing tus kab mob - Marchiafava, lossis Marchiafava tus kab mob - Micheli - yog ib yam kab mob uas tsis tshua muaj hematological, ua rau lub neej txaus ntshai thiab tus cwj pwm los ntawm venous thiab arterial thrombosis, intravascular hemolysis, kab mob hauv nruab nrog cev. Cov tsos mob ntawm tus kab mob no txawv heev. Ntawm cov cim qhia feem ntau yog paroxysmal lumbar, mob plab, tsis muaj zog, tso zis tsaus. Txoj kev kuaj mob tseem ceeb rau kev txiav txim siab paroxysmal nocturnal hemoglobinuria yog flow cytometry (kev qhia qis ntawm GPI-txog cov proteins ntawm cov qe ntshav). Monoclonal antibodies yog siv los ua cov kev kho mob tseem ceeb. Kuj tseem siv tau yog folates, tshuaj ntxiv hlau, hloov ntshav.
yam ntxwv ntawm tus kab mob
Paroxysmal hmo ntujhemoglobinuria yog ib qho mob hnyav heev ntawm cov ntshav, uas yog raws li hemolysis hauv cov hlab ntsha. Tus kab mob no yog tus cwj pwm los ntawm kev tuag siab. Nrog rau tus kab mob no, muaj kev hloov pauv hauv cov qauv ntawm erythrocytes, platelets thiab neutrophils. Marchiafava-Micheli tus kab mob tau piav qhia thawj zaug hauv xyoo 1928 los ntawm tus kws kho mob Italian E. Marchiafava, nrog rau nws cov tub ntxhais kawm Micheli. Feem ntau ntawm pathology hauv ntiaj teb (ib 100,000 tus neeg) yog 15.9 kis. Qhov nruab nrab hnub nyoog ntawm kev tshwm sim ntawm cov txheej txheem pathological feem ntau yog 30 xyoo. Cov poj niam me ntsis yuav raug mob los ntawm tus kab mob no. Pathology feem ntau ua ke nrog aplastic anemia thiab myelodysplastic syndrome.
Kev tshwm sim
Lub hauv paus ua rau ntawm paroxysmal nocturnal hemoglobinuria (hauv ICD-10 pathology code D59.5) yog somatic hloov pauv hauv cov qia hlwb nyob hauv cov pob txha pob txha, uas ua rau hemolysis, dysregulation ntawm cov kab ke ntxiv, hlab ntsha thiab venous. thrombosis, pob txha pob txha tsis ua haujlwm. Qhov kev hloov pauv yog nyob hauv cheeb tsam, raws li txoj cai, hauv X-txuas gene ntawm phosphatidylinositolglycan chav kawm A (PIG-A). Tus kab mob no, txawm tias qhov xwm txheej ntawm nws keeb kwm, tsis yog los ntawm keeb kwm, tab sis tau txais hauv cov txheej txheem ntawm lub neej.
Nyob rau hauv lub xub ntiag ntawm ib qho txawv txav ntawm tes clone nyob rau hauv cov ntshav peripheral, ntau yam physiological yam tuaj yeem ua kom lub zog ntxiv, ua rau muaj kev mob hnyav lossis pib qhov tshwm sim ntawm tus kab mob Marchiafava-Micheli. Cov yam ntxwv zoo li no yog kev ua haujlwmkev cuam tshuam, ntau yam kab mob sib kis, thiab txawm tias mob siab rau lub cev ua si thiab cov xwm txheej ntxhov siab. Lub ntsiab ua rau exacerbation ntawm paroxysmal nocturnal hemoglobinuria hauv cov poj niam yog cev xeeb tub. Tam sim no xav txog qhov tshwm sim ntawm pathology.
Pathogeny ntawm paroxysmal nocturnal hemoglobinuria
Cov kab ke ntxiv yog cov qauv tseem ceeb tshaj plaws ntawm tib neeg lub cev tiv thaiv kab mob. Thaum lub sijhawm nws ua haujlwm, cov protein tshwj xeeb (cov khoom siv ntxiv) yog tsim nyob rau hauv lub cev, uas rhuav tshem cov kab mob txawv teb chaws (cov kab mob, kab mob, fungi). Txhawm rau tiv thaiv cov proteins no los ntawm kev tawm tsam lawv cov qe ntshav, cov ntsiab lus tiv thaiv tshwj xeeb yog tsim los ntawm lawv daim nyias nyias - ntxiv inhibitors. Nrog rau kev loj hlob ntawm paroxysmal hemoglobinuria, vim muaj kev hloov pauv, qhov tsis txaus ntawm glycosylphosphatidylinositol thauj tog rau nkoj tsim, uas ua rau muaj kev hloov pauv hauv cov qauv ntawm cov qe ntshav: txo qis hauv kev qhia ntawm cov protein ntawm cov cell. Kev ua kom ntau dhau ntawm qee cov ntsiab lus ntawm qhov system ntxiv yog pom. C5b tsim cov membrane nres complex, uas ua rau hemolysis ntawm erythrocytes hauv cov hlab ntsha. Hauv qhov no, ntau cov hemoglobin tso tawm rau hauv cov hlab ntsha, tom qab ntawd nkag mus rau hauv cov zis, uas ua rau nws tsaus, thiab qee zaum txawm tias xim dub.
Ntxiv rau, neutrophils (granulocytic leukocytes) raug rhuav tshem. C5a stimulates platelet activation thiab aggregation, ua rau cov hlab ntsha thiab venous thrombosis thoob plaws hauv lub cev. NtawmKev kuaj mob pathoanatomical feem ntau qhia txog hemosiderosis ntawm lub raum, dystrophy thiab necrosis ntawm tubules ntawm lub raum, deposits ntawm hydrochloric hematin. Cov cim qhia ntawm aplasia tshwm sim hauv cov pob txha pob txha - qhov txo qis ntawm cov hematopoietic sprouts.
Kev faib tawm
Cov ntsiab lus tseem ceeb uas ua raws li kev faib tawm ntawm tus kab mob Marchiafava-Micheli yog kev kuaj pom cov kab mob hauv cov ntshav, tsis muaj lossis muaj hemolysis, nrog rau cov txheej txheem pathological sib txuas nrog cov pob txha tsis ua haujlwm - myelodysplastic syndrome, aplastic. anemia, myelofibrosis. Hauv tshuaj, muaj peb hom kab mob no:
- Classic shape. Muaj cov chaw kuaj mob thiab kuaj pom ntawm hemolysis yam tsis muaj pob txha pob txha tsis ua haujlwm.
- daim ntawv subclinical. Kev kuaj mob hauv cov neeg mob uas nws cov ntshav muaj cov hlwb nrog PNH phenotype, tab sis tsis muaj cov tsos mob ntawm hemolysis.
- Marchiafava-Micheli syndrome nrog ntshav pathologies. Kev kuaj mob zoo li no yog tsim nyob rau hauv cov neeg mob uas muaj cov tsos mob ntawm hemolysis, ib qho clone ntawm cov hlwb nrog PNH phenotype raug kuaj pom hauv cov ntshav.
Symptomatics
Feem ntau, cov kab mob tshwm sim maj mam. Cov tsos mob tseem ceeb ntawm tus kab mob Marchiafava-Micheli yog ncaj qha ntsig txog hemolysis. Ua ntej, tus neeg mob muaj qhov tsis muaj zog, kiv taub hau, malaise. Cov tawv nqaij, sclera thiab qhov ncauj mucosa qee zaum kis tau cov xim daj. Ntau tus neeg mob ntsib teeb meem ua pa thiab nqos. Kwv yees li ib lub hlis twgCov neeg mob pom tias cov zis dhau los tsaus nti lossis txawm dub (feem ntau thaum sawv ntxov lossis tsaus ntuj). Cov txiv neej tej zaum yuav muaj erectile kawg.
Qhov ua rau mob paroxysmal nocturnal hemoglobinuria yog thrombosis. Thrombi tuaj yeem tsim nyob txhua qhov chaw, tab sis lawv qhov chaw nyob ntau tshaj plaws yog thaj tsam lumbar thiab lub plab kab noj hniav. Nrog thrombosis ntawm cov hlab ntsha mesenteric, kev tawm tsam ntawm qhov mob plab tau pom, nrog rau cov hlab ntsha ntawm lub raum - mob hauv qab. Thrombosis ntawm cov hlab ntsha ntawm daim siab (Budd-Chiari syndrome) provokes mob nyob rau hauv txoj cai hypochondrium, kev loj hlob ntawm jaundice, qhov loj ntawm lub plab mog vim hepatomegaly thiab tsub zuj zuj ntawm cov kua nyob rau hauv lub peritoneum. Nrog rau txoj kev loj hlob ntawm cov pob txha tsis ua hauj lwm, ib tug hemorrhagic syndrome tshwm sim - los ntshav cov pos hniav, nosebleeds, petechial pob.
Kev kuaj mob Marchiafava-Micheli kab mob
Cov neeg mob uas muaj cov kab mob no tau soj ntsuam los ntawm hematologists. Thaum kuaj xyuas, lawv ntsuas cov xim ntawm daim tawv nqaij thiab cov mucous membranes. Lub plab kuj tseem palpated, cov xwm txheej ua ntej qhov pib tshwm sim (txias, hypothermia, kev ntxhov siab) raug tsim.
Qhov kev kuaj mob kuaj pom muaj xws li:
- Kev kuaj ntshav biochemical uas qhia pom cov tsos mob ntawm hemolysis - nce qib ntawm lactate dehydrogenase thiab indirect bilirubin, qis qis ntawm haptoglobin, ferritin thiabtooj liab. Feem ntau muaj ntau dhau ntawm cov txiaj ntsig siv ntawm urea, hepatic transaminases thiab creatinine.
- Kev kuaj ntshav dav dav thiab tso zis, uas qhia txog qhov txo qis ntawm cov qe ntshav liab thiab hemoglobin, qhov nce hauv cov concentration ntawm reticulocytes. Qee zaum, qhov txo qis ntawm cov leukocytes granulocytic thiab platelets pom. Urinalysis qhia tau hais tias muaj ntau ntau hemosiderin, hlau thiab dawb hemoglobin.
- Qhov kev kuaj xyuas, uas yog txoj hauv kev tseeb tshaj plaws kom paub meej tias muaj cov txheej txheem pathological, yog ntws cytometry. Nrog kev pab los ntawm cov tshuaj tiv thaiv kab mob monoclonal, qhov txo qis lossis tsis muaj kev qhia ntawm cov protein tiv thaiv ntawm daim nyias nyias ntawm erythrocytes, granulocytes thiab monocytes tuaj yeem kuaj pom.
- Cov kev tshawb fawb uas siv rau qhov xav tias muaj cov hlab ntsha lossis cov hlab ntsha venous. Cov kev tshawb fawb no suav nrog echocardiography, electrocardiography, CT ntawm lub hlwb, lub plab kab noj hniav thiab hauv siab, qee zaum nrog qhov sib txawv.
Kev kho mob
Cov neeg mob uas muaj tus kab mob Marchiafava-Micheli tau pw hauv tsev kho mob hauv lub tsev kho mob hematology, thiab nrog mob ntshav siab hnyav - hauv chav saib xyuas mob hnyav thiab mob hnyav. Txhawm rau kom tsis txhob muaj qhov tshwm sim tuag taus, cov kws kho mob yuav tsum pib kho (tshwj xeeb) kom sai li sai tau. Cov neeg mob uas muaj ib daim ntawv subclinical ntawm pathology yam tsis muaj cov tsos mob ntawm hemolysis tsis xav tau kev kho mob - nyob rau hauv cov ntaub ntawv no, kev soj ntsuam los ntawm ib tug hematologist thiab tsis tu ncua kev soj ntsuam ntawm lub chaw kuaj mob yog qhia.ntsuas. Cov txheej txheem kho mob rau paroxysmal nocturnal hemoglobinuria yuav tsum tau ua raws nruj me ntsis.
Kev Tiv Thaiv Kev Tiv Thaiv
Txoj kev saib xyuas zoo uas tshem tawm tag nrho cov tsos mob ntawm tus kab mob tseem tsis tau muaj. Kev ntsuas kev kho mob yog coj los tswj lub xeev ib txwm muaj ntawm tus neeg mob, txo qhov kev siv ntawm hemolysis, qhov tshwm sim ntawm cov teeb meem (lub raum tsis ua haujlwm, thrombosis). Kev saib xyuas kev kho mob rau paroxysmal nocturnal hemoglobinuria (PNH) suav nrog cov hauv qab no:
- Kev kho mob. Cov tshuaj tseem ceeb, uas muaj txiaj ntsig zoo thiab cuam tshuam rau qhov txuas tseem ceeb hauv cov kab mob pathogenesis, yog eculizumab. Nws yog monoclonal antibody uas muaj peev xwm khi rau C5 ntxiv tivthaiv thiab thaiv nws cov kev sib cais rau C5a thiab C5b. Raws li qhov tshwm sim, tsim cov cytokines pro-inflammatory cytokines thiab cov membrane nres complex, uas ua rau hemolysis, platelet aggregation thiab kev puas tsuaj ntawm neutrophils, yog suppressed.
- kho mob. Txhawm rau txhim kho cov ntshav liab tsis kam, folic acid thiab vitamin B 12 yog tshuaj, nrog rau cov hlau tsis muaj zog - cov ntaub ntawv ntawm qhov ncauj ntawm cov tshuaj hlau nrog vitamin C. Anticoagulants tau muab rau kev kho mob thiab tiv thaiv thrombosis..
- Immunosuppressive kho mob Marchiafava-Micheli kab mob. Txhawm rau txhim kho thiab txhim kho cov txheej txheem ntawm hematopoiesis, cytostatics (cyclosporine, cyclophosphamide) yog siv. Hauv cov neeg mob tsawg, cov tshuaj antithymocyte globulin zoo.
- Lwm txoj kevtshem tawm hemolysis. Txhawm rau kom tsis txhob hemolysis, glucocorticosteroids thiab androgens kuj tau siv, tab sis cov txiaj ntsig ntawm cov tshuaj no tsawg heev. Kev hloov ntshav tag nrho tej zaum yuav yog kev kho mob tseem ceeb.
kho mob phais
tib txoj hauv kev kom ua tiav cov kab mob Marchiafava-Micheli yog allotransplantation ntawm qia hlwb, uas yog ua raws li cov txiaj ntsig ntawm HLA ntaus ntawv txhawm rau xaiv tus neeg pub dawb. Cov kev ua haujlwm zoo li no tsis tshua muaj tshwm sim, vim tias lawv muaj feem cuam tshuam nrog qhov tshwm sim ntawm ntau qhov teeb meem uas tsis sib haum nrog lub neej (veno-occlusive kab mob siab, kab mob graft-tiv thaiv tus tswv tsev). Kev phais raug pom zoo rau cov neeg uas tiv taus cov kev kho mob ib txwm muaj.
Kev nyuaj siab
Tus kab mob no tshwm sim los ntawm ntau yam teeb meem txaus ntshai. Feem ntau yog thromboses, ntawm 60% ua rau tuag vim mob stroke, myocardial infarction, pulmonary embolism. Vim muaj cov tshuaj lom ntawm hemoglobin ntawm lub raum tubules, kwv yees li 65% ntawm cov neeg mob muaj kab mob raum, uas ua rau tuag hauv 8-18% ntawm cov neeg mob. Hauv kwv yees li 50% ntawm cov neeg mob, cov hlab ntsha me me hauv lub ntsws provokes pulmonary hypertension. Tsawg zaus, vim yog cov pob txha tsis ua haujlwm, tib neeg tuag los ntawm kev kis kab mob thiab los ntshav loj.
