复旦儿科学课件：血液系统疾病-高怡瑾

AssociatedProfessorGao

YijingChildren`sHospital,FudanUniversityDiseasesoftheBloodinChildren

血液系统疾病DiseasesoftheBloodinChildrenAnemias

Nutritionalanemias(Irondeficiencyiron)Hereditaryspherocytosis

Glucose-6-phosphatedehydrogenase(G-6-PD)deficiency

Thalassemia

Bleedingdisorders(Hemorrhagicdiseases)ITPHemophiliaNeoplasticdiseasesDevelopmentoftheHematopoieticSystemBloodformationfirstcanberecognizedasearlyas3rdwkafterconceptionBy2moactivehematopoiesisisestablishedintheliver,whichisthemainsiteofbloodformationduringthemiddleportionoffetallifeAfterabout6mohematopoiesisshiftsgraduallytothemedullaryspaces,andbybirthmostbloodformationnormallytakesplaceinbonemarrow

Extramedullary

hematopoiesisHematologicValuesDuringInfancyandChildhoodNormalrangesforperipheralbloodcountsvarysignificantlywithage

Redbloodcells

PhysiologicanemiaHemoglobinWhitebloodcellsAnemia

AreductionoftheredbloodcellmassorhemoglobinconcentrationbelowtherangeofvaluesoccurringinhealthypersonsLowerlimitofnormalhemoglobinvaluesatvariousages

neonate

Hb

145g/L

1~4mHb

90g/L

4~6mHb

100g/L6m~6yHb

110g/L6y~14yHb

120g/LDegreeofanemia

MildModerate

SevereExtremelysevere

~90g/L~60g/L

~30g/L30g/LNeonate~120g/L

~90g/L

~60g/L60g/LAnemiaisnotaspecificentitybutanindicationofanunderlyingpathologicprocessordiseaseTwousefulclassificationofanemias

Physiologic(erythrokinetic)classification

1.

thoseresultingprimarilyfromdecreasedproductionofredbloodcellsorhemoglobin2.thoseinwhichincreaseddestructionorlossofredbloodcells

Morphologicclassification

theredbloodcellsbeingcharacterizedbytheirmeancorpuscularvolume(MCV)asmicrocytic(MCV<75fl),macrocytic(MCV>100fl),ornormocytic(75-100fl)ClassificationoftheAnemiasAnemiasresultingprimaryfrominadequateproductionofredbloodcellsorhemoglobinHemolyticanemiasExtrinsic(extracelllular)abnormalitiesNonimmunologicdisorders

Anemiasresultingprimaryfrominadequateproductionofredbloodcellsorhemoglobin

Decreasednumbersofredbloodcellprecursorsinthemarrow“Pureredbloodcell”anemia

CongenitalpureredbloodcellanemiaAcquiredpureredbloodcellanemias(e.g.TEC)

Inadequateproductiondespitenormalnumbersofredbloodcellprecursors

Anemiaofinfection,inflammation,andcancerAnemiaofchronicrenaldiseaseCongenitaldyserythropoietic

anemias

Anemiasresultingprimaryfrominadequateproductionofredbloodcellsorhemoglobin

Deficiencyofspecificfactors

Megaloblastic

anemiasFolicaciddeficiencyormalabsorptionVitaminB12deficiency,malabsorption,ortransport

Orotic

aciduria

Microcytic

anemias

IrondeficiencyPyridoxine-responsiveandX-linkedhypochromic

anemiasLeadpoisoningCopperdeficiency

ThalassemiatraitHemolyticanemias

Intrinsicabnormalitiesoftheredbloodcell

“Structural”defectsHereditaryspherocytosisHemolyticelliptocytosis

Paroxyknocytosis

Enzymaticdefects(nonspherocytichemolyticanemias)

Enzymesofglycolyticpathway---pyruvate

kinase,

hexokinase,andothersEnzymesofthepentosephosphatepathwayandglutathionecomplex

Defectsinsynthesisofhemoglobin

HbS,C,D,E,etc,aloneandincombinationThalassemiaExtrinsic(extracellular)abnormalites

Immunologicdisorders

Passivelyacquiredantibodies(hemolyticdiseaseofthenemborn)

Rh

isoimmunzationAorBisoimmunizationOtherbloodgroupfamilies

Activeantibodyformation

Idiopathicautoimmunehemolyticanemia;coldagglutinindiseasesSymptomatic---lupus,lymphoma

Drug---inducedNonimmunologicdisorders

Toxicfromdrugs,chemicalsInfections---malarial,clostridial155-13Normalredcellmorphology155-14MicrocytesinIDA155-15Megalocytesinperniciousanemia

NutritionalAnemias

Irondeficiencyanemia

MegaloblasticanemiaIrondeficiencyanemia

IDAIDAresultsfromlackofsufficientironforsynthesisofhemoglobinMicrocytic

hypochromicanemiaIDA

EpidemiologyMostcommoncauseofanemia

Globally,~30%oftheestimatedworldpopulationofalmost4.5billionareanemic,andatleasthalfofthese,or500millionpeople,arebilievedtohaveIDAToddlers,adolescentgirls,andwomenofchildbearingageIDA

Etiology

InsufficientironstoresInadequateironsupply

DietwithinsufficientamountsofbioavailableironImpairedabsorptionofironIncreasedironrequirements

BloodlossGrowthPregnancyandlactationImpairedirontransportIDA

Pathogenesis

Irondepletion，ID

Irondeficienterythropoiesis，IDE

Irondeficiencyanemia，IDA

LaboratoryevaluationofironstatusSerumferritin，SF

Freeerythrocyteprotoporphyrin，FEP

Serumiron，SI

Transferrinsaturation，TS

Totalironbindingcapacity，TIBC

Marrowironstores

GItractHepatocyteTFMuscle,otherparenchymalcellsMonocyte/macrophagesystemCirculatingredbloodcellsErythroid

marrowBodyironsupplyandstorage（Normal）GItractHepatocyteTFMuscle,otherparenchymalcellsMonocyte/macrophagesystemCirculatingredbloodcellsErythroid

marrowBodyironsupplyandstorage(ID)GItractHepatocyteTFMuscle,otherparenchymalcellsMonocyte/macrophagesystemCirculatingredbloodcellsErythroid

marrowBodyironsupplyandstorage(IDE)GItractHepatocyteTFMuscle,otherparenchymalcellsMonocyte/macrophagesystemCirculatingredbloodcellsErythroid

marrowBodyironsupplyandstorage(IDA)IDA

clinicalmanifestationsPalloristhemostimportantclueFewsymptomsofanemiaarenotedinmildtomoderateIDAcases(60~100g/L)IrritabilityandanorexiaareprominentwhenHblevelfallsbelow50g/LTachycardia,cardiacdilatationandsystolicmurmurareoftenpresentPalpablespleenin10~15%ofpatientsPicaissometimesprominentChangesinneurologicandintellectualfunctionIDA

LaboratoryfindingsPeripheralblood

microcytic

hypochromicanemianormalorminimallyelevatedreticulocytecountBonemarrow

hypercellularwithironhyperplasiaBiochemicalindicators

SF

+FEP

+SI

、TIBC

、TS

Marrowironstores2-3+0-Trace

0

0

SF(g/L)

1006020

1010

SI(g/dl)

11550115

60

40TS(%)351530

15

10Sideroblast(%)

40-6040-60

10

10TIBC(g/dl)

330

30360

390

410FEP(g/dlRBC)

3030

100

200RBCs

NormalNormal

NormalNormalIDAIDEIDMicrocytichypochromicStorageironTransportironErythronironIDA

DiagnosisDifferentialdiagnosis

ThalassemiaAnemiaofchronicdisease

sideroblastic

anemias

IDA

treatment

GeneralMeasuresOraladministrationofsimpleferroussalts(sulfate,gluconate,fumarate)

Elementiron4~6mg/kg.dfor2~3moTransfusionBleedingdisorders(Hemorrhagicdiseases)

ITPHemophilia

ITP

Immunethrombocytopenicpurpura

IdiopathicthrombocytopenicPurpuraMostcommonofthethrombocytopenicpurpurasofchildhoodAnimmunemechanismisthebasisforITPAcuteITP/ChronicITPExcellentprognosisITP(acute)PathogenesisReducedplateletlifespaninessentiallyallpatientsIncreasedplateletproductioninmostpatientsInfrequentseverequalitativeplateletdefectsITP

clinicalmanifestationSuddenonsetMostchildrenagedfrom2~5yearsOftenfollowsviralinfectionPetechiaeandpurpuraarecommonGenerallynootherphysicalfindingsIsolatedthrombocytopenia20~30,000/ulHigherfrequencyofspontaneousremissionITP(acute)laboratoryfindingsPeripheralblood

CBCBloodsmear(Bonemarrow,plateletassociatedantibody,PTTandPT)ITP（acute）

anotherwisehealthychildisolatedthrombocytopenia

physicalexaminationonlyforbruisingorpetechiae

clinicaldiagnosis

Diagnosis鉴别诊断ITPisadiagnosisofexclusionITP

(acute)treatmentGeneralMeasuresCorticosteroidsIntravenousImmuneGlobulin(IVIG)Anti-DSplenectomyHemophiliaHemophiliasIncludeseriousofthecongenitalcoagulationdisorde