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پروفسور محمد حسین سلطان زاده
استاد
دانشگاه علوم پزشکی شهید بهشتی
متخصص کودکان ونوزادان
طی دوره بالینی عفونی از میوکلینیک آمریکا
دبیر برگزاری کنفرانس های ماهیانه گروه اطفال
دانشگاه علوم پزشکی شهید بهشتی
|
آقای دکتر تقی ارزانیان و
خانم دکتر شمسیان
فوق تخصص خون اطفال بیمارستان مفید
بخش انکولوژی به اتفاق اعضا هیئت
علمی بخش انکولوژی بیمارستان مفید |
آزمايشات پدربيمار:
o
ٌWBC=
5600/mm3 RBC=5130000/mm3
o
Hb=16gr/dl HCT= %47
o
MCV=
92 fl MCH= 31 pg
o
MCHC
= 34 gr/dl
o
PLT= 285
000/mm3 Retic = %1.8 Ferritin= 159 ng/ml
o
HbElectrophorasis = Normal
آزمايشات مادر
:
o
WBC=
13.400/mm3 RBC=5.360000/mm3
o
Hb=
15gr/dl HCT= %43
o
MCV=
81fl MCH= 28pg MCHC=34 gr/dl
o
PLT=
652000/mm3 Retic = %3.6
o
PBS/
poly chrome & spherocyte : small
o
SGOT=
22Iu/l SGPT= =27Iu/l
o
Bil
T= 0.95mg/dl Bil D= 0.23mg/dl
o
G6PD:
Normal
o
Pyrovate
kinase: Normal
o
Autohemolysis :Increased
o
Without added Glucose:
8.3 Reference range: 0. 2-2
o
With
added Glucose: 0.9
o
0-0.9
o
Osmotic Fragilituy test (
Before incubation) : 0.55
o
Rreference range 0.45-
0.4 %NACL
o
Conclusion: Increased
o
Osmotic Fragilituy test :
(After incubation) 0.75
o
Rreference range 0.6-
0.5 %NACL
o
Conclusion: Increased
o
Ferritin:1844ng/ml
o
Hb electrophorasis: Normal
o
آزمايشات مرحله
2
بيمار:
1388.8( 8 ماهگي)
o
WBC=8000/mm3
o
RBC=3.840000/mm3
o
Hb=8.9
gr/dl HCT=
%26
o
MCV=67
fl MCH=23
Pg
o
MCHC=34 gr/dl
PLT=
562000/mm3 Retic= %17 PBS=polychromasia& spherocyte: Moderate
o
SGOT=43Iu/
l SGPT=39 Iu/l
o
Bil T=0.85
mg/dl Bil D =0.26/mg/dl
o
G6Pd: Normal
o
Pyrovate kinase : Normal
o
Autohemolysis Test:
Increased
o
Without addded Glucose:
9 percent 0.2-2
o
With added Glucose:
4.2 0-0.9
o
OFT:Before incubation
o
Beginning of
hemolysis;0.5 0.45- 0.4
o
Completion of hemolysis:
0.35 0.35-0.3
o
Conclusion: Increased
o
OFT: After incubation
o
Beginning of hemolysis;
0.75
o
Conclusion: Increased
o
Hb Electhrophorasis:
o
Hb A: %89 Hb F= %8.
Hb A2= % 2.4
o
Ferritin: 622ng/ml
o
Abdominal sonography:
splenomagaly
Diagnosis: Heriditary Sherocytosis
o
Patient/ Last CBC:
1388/12
o
RBc= 4.860000/mm3
Hb=11.4 gr/dl
o
MCV=66
fl MCH=23 pg MCHC=36 gr/dl
o
Retic=%1.
9
o
BilT=1.4
mg/dl BilD=0.3 mg/dl
o
SGOT=25Iu/l
SGPT=33Iu/l
o
Mother CBC:
o
RBc=553000/mm3
Hb=
15 gr/dl MCV=
77 fl
o
MCH= 27 pg
MCHC= 35 gr/dl
o
Retic= %o.5
o
Ferritin= 1400ng/ml
o
Direct & indirect coombs
test: negative
o
با توجه
به تاخير تكاملي بيمار درسير ارزيابي در محدوده سني
7
ماهگي به درمانگاه
نورولوژي كودكان معرفی شد. بررسي انجام شده:
o
Serum &
Urine Amino acid : Normal
o
Plasma
Ammonia: 1.56mcg/ml Up to 1
o
Lactic
acid: 3.5 mmol/ L 0.5-2.2
o
Ca, P,
Alk Phosphatase: Normal
o
Brain MRI: Poly
microgyria in both lobe of parietal duo to ischemia changes
بيمار به دليل تاخير تكاملي كاردرماني ميشود و تحت پيگيري هماتولوژي
در درمانگاه خون با مصرف اسيد فوليك يك ميليگرم روزانه قرار دارد.تزريق خون ديگر
نداشته است.
بيمار و مادر بيمار با توجه به مقادير پائين عددMCV
كانديد بررسي موتاسيون ژني از لحاظ انواع صفت آلفا و بتا تالاسمي ميباشند.
DIAGNOSIS
o
RH INCOMPATIBILITY &
ISOIMMUNIZATION
+
o
HERIDITARY SPHEROCYTOSIS
+
o
ALPHA OR BETA THALASSEMIA
TRAIT
o
Nonimmune hydrops
fetalis in two cases of consanguineous parents and associated with hereditary
spherocytosis and hemophagocytic hystiocytosis
S Yetgin
, S Aytac
o
Nonimmune hydrops fetalis may
occur as a result of different etiological conditions and in about one-third of
cases no cause could be identified. Here, we report two cases of nonimmune
hydrops fetalis associated with hereditary spherocytosis and hemophagocytic
hystiocytosis. We think that babies with hydrops fetalis born of consanguineous
parents should be examined for hereditary diseases, and that these rare causes
should be taken into account in problematic cases.
Journal of Perinatology (2007) 27,
252–254. doi:10.1038/sj.jp.7211657
o
Nomimmune Hydrops
Fetalis due to Diamond-Blackfan Anemia
S.M. Saladi T. Chattopadhyay P.N. Adiotomre
We describe case report of a baby
with Diamond
Blackfan anemia, who presented as
non-immune
hydrops fetalis. The diagnosis was
confirmed by
measurement of red cell adenosine
deaminase
activity which is increased in
Diamond-Blackfan
anemia. At 2 years of age he is
dependent on small
dose of alternate day steroid to
maintain his
hemoglobin.
o
Deficiency
of a-Spectrin Synthesis in Burst-Forming Units-Erythroid in Lethal
Hereditary Spherocytosis
Barbara A. Miller
A child diagnosed in utero with
hydrops fetalis and a hematocrit
of 6.4% was studied to determine
the etiology of the
anemia. Fetal red blood cells (RBCs)
obtained during in utero
transfusion had extremely abnormal
osmotic fragility. A
maternal history of mild autosomal
dominant hereditary
spherocytosis was present, and the
father, who was hematologically
normal, had a slightly abnormal
osmotic fragility
test. The patient was transfusion
dependent after birth, with
circulating nucleated RBCs but
less than 1 YO reticulocytes.
The patient’s anemia failed to
respond to splenectomy.
Because mature RBCs of the patient
were not available for
study, progenitor-derived
erythroblasts grown in culture
were investigated. lmmunodot
assays of the patient’s progenitor-
derived cells showed a total cell
spectrin content 26% o
o
Deficiency of a-Spectrin
Synthesis in Burst-Forming Units-Erythroid in Lethal
Hereditary Spherocytosis
Barbara A. Miller
normal. Immunoprecipitation of
whole burst-forming unitserythroid-
derived cells and solubilized
membranes from
cells pulse-labeled with %-methionine
showed a severe
deficiency in arspectrin synthesis
and a markedly reduced
amount of a- and p-spectrin
on cell membranes. No a-spectrin
degradation products were found
within the cells or
were produced during membrane
preparation. Ankyrin content
and band 3 synthesis were not
different from control.
Inheritance of two genetic defects
causing severely reduced
arspectrin synthesis is proposed
as the cause of the lethal
anemia, resulting in cell
fragmentation during precursor
enucleation or during egress from
bone marrow.
o 1991 by
The American Society of Hematology.
