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PREZENTARE DE CAZ
CHIRILA ALINA
Medic rezident pediatrie anul V
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M.S.E
Copil de sex feminin in varsta de 3 ani si 5 luni se prezinta la Spitalul Focsani pe data de 17 .01.2012 pentru urmatoarele simptome:
Paloare a tegumentelor Scadere in greutate Marire de volum a abdomenului
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INVESTIGATII SP FOCSANI
Hb = 2,4g/dl Ht =8,3% VEM =53,5 Fl HEM =15,5 pg CHEM =28,9g/dl WBC =12.600/mm3 TR =391.000/mm3 RBC =1550.000/mm3
Glicemie= 83 g/dl Uree= 17 mg/dl Creatinina =0,2mg/dl TGO =27U/L TGP =6 U/L BT =1.64 mg/dl BI = 1,64 mg/dl BD =0 mg/dl CRP < 6mg/dl VSH =120 mm/h
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RX CARDIOPULMONARA
Discreta accentuare a desenului interstitial hiliobazal bilateral
Cord globulos
18.01.2012 Se transfera in
SECTIA ONCOHEMATOLOGIE
-SPITALUL DE PEDIATRIE IASI
pentru continuarea investigatiilor
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AHC
mama =20 anitata =23 ani aparent sanatosi Frate =5 ani
Parintii sunt verisori de gradul II
IIIGIIP, naste natural ,sarcina la termen, GN =3400g,Apgar=? Mama –sarcina extrauterina s-au legat trompele
uterine
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Nu a respectat programul de vaccinare Profilaxia rahitismului pana la 1 an CVM: mediul urban ,1 camera /4 persoane Tatal fumator Nu a primit medicamente la domiciliu Nu a fost luata in evidenta medicului de
familie
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EXAMENUL CLINIC Stare generala satisfacatoare Talie =87cm T – 2,58 DS Greutate =12 kg G – 2,15 DS PC = 50,5cm PC + 1,4 DS Facies incercanat facies talasemic Tegumente palid teroase mucoase palide Moderata hiperemie faringiana Tesut conjunctiv-adipos slab reprezentat Hipotrofie musculara Torace evazat,tuse productiva Suflu sistolic gradul II-III/6 precordial ,FC= 116bpm, Abdomen marit de volum Ficat la 2 cm de rebordul costal Splina la 6 cm sub rebordul costal
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FACIES TALASEMIC
Malare proeminenteBose frontaleDepresia arcadei nazaleProtruzie maxilara
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DIAGNOSTIC DE ETAPA
ANEMIE SEVERA HEPATOSPLENOMEGALIE HIPOTROFIE STATUROPONDERALA INFECTIE ACUTA CAI RESPIRATORII
SUPERIOARE
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18.01 23.01 26.01 30.01 3.02 13.02
WBC 14,07 6,07 5,12 7,86 4,46 9,49
RBC 1,68 3,93 3,38 3,5 3,28 3,17
HG 2,3 9,6 9,2 8,5 7,7 8,8
HT 9,5 31 28,6 26,7 24,7 25,9
MCV 56,6 79 84,6 76,4 75,3 81,8
MCH 13,7 24,4 27,2 24,3 23,5 27,8
MCHC 24,2 31 32,2 31,8 31,2 34
PLT 290 155 143 315 276 906
RET 98 26 18 20
FE 227
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18.01 23.01 30.01 3.02 13.02
FIB 254
TGP 7 236 36
TGO 25 145 35
UREE 15
CREA 0,46
PT 74,77
BT 1,63 0,96 1,11
BD 0,67 0,21 0,5
BI 0,96 0,75 0,61
LDH 694 685
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ELECRO-FOREZA HB
20.01
PRAXIS
23.01
SYNEVO
31.01
SYNEVO
HB A1 97,18 %
N 96,5-99,5
97,8 %
N >95%
91,3 %
N>95%
HB A2 2,82 %
N 0,5-3,5%
2,2 %
N 1,5-3,5%
3,4%
N 1,5-3,5%
HB F 5,3 %
N<2%
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18 .01 normal
Rezistenta globulara
Hemoliza initiala
5 g NACL/1000 4,2 -4,6
Rezistenta
Globulara
Hemoliza totala
2,5 g NACL/1000 3,4-3,8
TEST COOMBS DIRECT
negativ negativ
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FERITINA 25.01
PRAXIS
8.02
SYNEVO
313,1 ng/ml
N = 7-140
759,6 ng/ml
N =6-67
MEDULOGRAMA• Usoara hemodilutie,microcheaguri• Eritropoeza hiperplazica hipocroma• Granulopoeza eficienta maturativ fara modificari morfologice• Megacariopoeza prezenta,plachete agregate prezente pe frotiu
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24.01 Ac anti HCV negativ
24.01 Ag HBs negativ
25.01 Ac anti HIV 1 absenti
25.01 Ac anti HIV 2 absenti
RX TORACEHemidiafragm drept ascensionatDesen pulmonar accentuatCord globulos
RX CRANIUnormal
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ECOGRAFIE ABDOMINALA 19.01 ficat cu echostructura
omogena LDH=108mm colecist contractat
postprandial pancreas
nevizualizabil,aerocolie intensa,
Splina cu structura omogena 130 mm(n<90)
V.splenica =7,2 mm Rinichi ocho normali
1.02 Ficat LHD=120mm,cu
reflectivitate crescuta,omogen
Colecist,pancreas,vezica urinara normale
Splina =130mm V. splenica = 5,5 mm in hil
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EKGRitm sinusal 100-110/minAQRS +50 gradePQ =0,12 sec, morfologie normalaQT =0,34 (limita superioara)
ECOCARDIOGRAFIE 31.01Cord cu structura normala ,dar cu VS usor dilatatPosibil supraincarcare de volumSe recomanda diureticRevine peste o saptamana
ECOCARDIOGRAFIE 8.02CMD amelioratControl peste 3 luni
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DIAGNOSTIC
BETA TALASEMIE CARDIOMIOPATIE DILATATIVA HIPOTROFIE STATURO PONDERALA INFECTIE ACUTA DE CAI RESPIRATORII
SUPERIOARE
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TRATAMENT
MASA ERITROCITARA
IZOGR/IZORH =120 ml* 6zile ACID FOLIC 1 mg/po SPIRONOLACTONA 25 mg/po
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TRATAMENT
CIPRINOL 200mg /iv 4 zile BROMHEXIN 30 pic/po IBALGIN PARACETAMOL
EXTERNARE 17.02
revine peste 2 saptamani
continua tratamentul
cu acid folic si spironolactona
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5.03 5.03
WBC =8,7*10*9/L
RBC =1,97*1O*12/L TGP =17 U/L
HGB =6,0g/L TGO =26 U/L
HT =15,8% UREE =21 mg/dl
MCV=80,2fL CREAT =O,38 mg/dl
MCH =30,5 pg FE =80 ug/dl
MCHC =18,0 g/L BT =1,28 mg/dl
PLT =134.000/mm3 BD =O,69 mg/dl
RET =40/1000 BI =0,59mg/dl
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Electroforeza hemoglobinei in lucru
Fe =80 ug/dl
FERITINA =584,1/ml
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ECOGRAFIE ABDOMINALA
Ficat LDH =105 mm,structura omogena Colecist alitiazic Splina 135mm, structura omogena Pancreasul nu se vizualizeaza RD,RS normali VU in semirepletie
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TRATAMENT
ME 100 ml HSHC 25 mg ACID FOLIC 1mg SPIRONOLACTONA 25 mg
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SINDROAMELE TALASEMICE
Sunt anemii hemolitice congenitale datorate unui deficit cantitativ de sinteza a lanturilor globinice ale moleculei de hemoglobina.
1…FORME MINORE(HETEROZIGOTE)
Sunt printre bolile genetice cele mai frecvente
2…FORME MAJORE(HOMOZIGOTE)
Sunt mai rare dar mai grave
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FIZIOPATOLOGIE Talasemiile sunt consecinta unor anomalii ale
genelor care controleaza sinteza lanturilor alfa sau beta globinice
Deficitul de sinteza al unuia din lanturile alfa sau beta globinice conduce la scaderea sintezei hemoglobinei, ceea ce determina caracterul hipocrom si microcitar al anemiei
Excesul de lanturi globinice neafectate duce la precipitarea acestora in eritroblasti si eritrocite, conducand la hiperhemoliza intramedulara (eritropoieza ineficienta) si hiperhemoliza periferica extravasculara
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FIZIOPATOLOGIE Raspunsul compensator la hiperhemoliza este cauza
hiperplaziei eritroblastice, cu expansiunea maduvei osoase hematopoietice si modificari scheletice caracteristice ca si dezvoltarea focarelor de hematopoieza extramedulara (hepatosplenomegalie)
Hipoxia cronica datorata anemiei necorectate duce la intazierea cresterii somatice ,retard psihomotor,retard pubertar si suferinta multiorganica
Hiperhemoliza conduce lacatabolism accentuat al hemoglobinei ,icter,hiperbilirubinemie neconjugata, litiaza biliara pigmentarahemosideroza hepatica miocardica,DZdeficit de hormon de crestere hipotiroidism ,hipogonadism.
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CLASIFICAREA CLINICA SI GENOTIPICA A ALFA TALASEMIILLOR
FENOTIP CLINIC -PARACLINIC
ALFA TALASEMIA SILENTIOASA
Asimptomatica
Hematologic normal
ALFA TALASEMIA MINORA
Anemie moderata
Microcitoza ,hipocromie
HEMOGLOBINOZA H AH severa sau moderata
Icter, HSM
HIDROPS FETAL
SDR HB BART
Anemie fetala f severa, edeme,HSM, deces in utero sau dupa nastere
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CLASIFICAREA BETA TALASEMIEI
BT MAJORA
ANEMIA COOLEY
Forma homozigota
Tablou clinic complet
BT INTERMEDIARA Homozigoti
Tablou clinic atenuat
BT MINORA Heterozigoti,absenta manifestarilor clinice
BT SILENTIOASA Asimptomatica,sange periferic si electrof hb normale
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COMPLICATII SI SECHELE
Anemie cronica Hemocromatoza Ciroza si insuficienta hepatica Insuficienta cardiaca,aritmii ,pericardite Hiperplazie medulara Osteoporoza marcata ,rahitism,deformarile
coloanei vertebrale,fracturi,compresii nervoase DZ, hipotiroidie,hiperpigmentare cutanata Septicemie
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TRATAMENTUL TALASEMIILOR
Transfuzii de masa eritrocitara
=15-20 ml/kg
cu pastrarea Hb =10-11 g/dl
repetate la 3-4 saptamani Vaccinarea impotriva
VHB si VHC
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TRATAMENTUL DE CHELAREferitina <1000ng/ml
DESFERIOXAMINA (DESFERAL)Flacon 500 mg40-60 mg/kgc/zi /iv
DEFERASIROXUM (EXJADE)Comprimate 125mg,250mg,500mg20 mg/kg/zi/po
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SPLENECTOMIA se face dupa vaccinarea antihemofilica si antipneumococica
Postsplenectomie se face profilaxia cu penicilina
TRANSPLANTUL CU CELULE STEM ALOGENICE
TERAPIA GENICA
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PROFILAXIA
Are ca obiectiv reducerea numarului formelor majore (homozigote)
Se bazeaza pe dg starii de purtator si sfatul genetic ,in populatiile la care frecventa mutatiilor este crescuta
Diagnosticul prenatal in familiile in care ambii parinti sunt heterozigoti cunoscuti
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