6. pediatri PEDIATRIC HEMATOLOGY ONCOLOGY DISEASES

Question 1

Congenital Hypoplastic Anemia (Diamond- Blackfan Anemia) is imp because?

Answer 1

Young then 1 years old
are, congenital bone marrow failure syndrome

Elevated fetal hemoglobin (HbF)

Causative mutations are in RP genes

Question 2

Congenital Hypoplastic Anemia (Diamond- Blackfan Anemia)’s diagnostic critarieas

Answer 2

yoounger then 1

Macrocytic anemia

Reticulocytopenia

increased Red Cell adenosine Deminase

Question 3

What is imp about Pearson syndrome?

Answer 3

 Rare mitochondrial disorder

Hemoglobin level of F elevated

May evolve to include symptoms consistent with Kearns-Sayre syndrome

Question 4

What is TRANSIENT ERYTHROBLASTOPENIA OF CHILDHOOd

Answer 4

Transient erythroblastopenia of childhood (TEC) is the most common acquired red cell aplasia occurring in children

Question 5

What is the most common acquired red cell
aplasia occurring in children.

Answer 5

Transient erythroblastopenia of childhood (TEC)

Question 6

Anemia of Chronic Disease is?

Answer 6

The anemia of chronic disease (ACD), also referred to as anemia of inflammation, is
found in conditions where there is ongoing immune activation

Hemoglobin concentrations are generally 6-9 g/d

iron level is low, without the increase in serum transferrin

Question 7

Anemia of Renal Diseas is imp because?

Answer 7

Anemia is common in children with chronic kidney disease (CKD).

Question 8

 Congenital Dyserythropoietic Anemias is imp because?

Answer 8

Patients do not respond to erythropoietin

Cholecystectomy is often required for management of pigmented gallstones

heterogeneous class of inherited disorders resulting from abnormalities of late
erythropoiesis

Question 9

Physiologic Anemia of infancy ?

Answer 9

Within the 1st wk of life, a progressive decline in Hb level begins and then persists for 6-8
wk.
 The resulting anemia is known as the physiologic anemia of infancy

Question 10

Megaloblastic Anemias is imp because?

Answer 10

caused by impaired DNAsynthesis

Neutrophils are characteristically
hypersegmented, with many
having >5 lobes

Most cases of childhood
megaloblastic anemia result from
a deficiency of folic acid or
vitamin B12 (cobalamin

Question 11

Folic Acid Deficiency anemi is imp because?

Answer 11

MCV>100 fL,

folic asit<3 ng/mL (5-20)

irritability, chronic diarrhea, and poor weight gain. Hemorrhages from thrombocytopenia may
occur in advanced cases

Question 12

 Vitamin B12 (Cobalamin) Deficiency anemi is imp because?

Answer 12

weakness, lethargy, feeding difficulties, failure to thrive, and irritabilit

Question 13

Iron-Deficiency Anemia is imp because

Answer 13

most widespread and common nutritional disorder in the world.

Most children with iron-deficiency anemia are asymptomatic and are identified by
routine laboratory screening at 9-12 mo of age

Question 14

most widespread and common nutritional disorder in the world is

Answer 14

Iron-Deficiency Anemia

Question 15

Hemolytic Anemias means?

Answer 15

 Hemolysis is defined as the prematüre destruction of red blood cells (RBCs)

increase in the reticulocyte count

Question 16

 Sickle Cell Disease is imp because

Answer 16

 Jaundice, anemia, HbS>HbA, painfully

Aplastic Crisis(parvo 19)

 Decreased—>elevated HbF

Neurologic Complications(acute ischemic stroke)
 Pulmonary Complications(pleural effusion)
Avascular Necrosis
 Priapism(painful erection of penis

Question 17

THALASSEMIA MAJOR, COOLEY ANEMIA is imp because?

Answer 17

HbF>%90, HbA1 %0,HbA2–> to %7

Question 18

The Pancytopenias are?

Answer 18

 FANCONI ANEMIA

 SHWACHMAN-DIAMOND SYNDROME

Question 19

 Idiopathic (Autoimmune) Thrombocytopenic Purpura(acute) is imp because?

Answer 19

the severity of bleeding in ITP on the basis of symptoms and signs rather than platelet count, as follows:

No symptoms
 Mild symptoms: bruising and petechiae, occasional minör epistaxis,very little interference with
daily living
 Moderate symptoms: more severe sldn and mucosal lesions, moretroublesome epistaxis and
menorrhagia
 Severe symptoms: bleeding episodes— menorrhagia, epistaxis,melena— requiring transfusion or
hospitalization, symptoms interfering seriously with the quality of life

Question 20

 Congenital Abnormalities of Platelet Function

Answer 20

Bernard-Soulier syndrome

Glanzmann thrombasthenia

Question 21

What is Bernard-Soulier syndrome

Answer 21

a severe congenital platelet function disorder, is caused by
absence or severe deficiency of the VWF receptor on the platelet membrane

Question 22

What is Glanzmann thrombasthenia

Answer 22

is a congenital disorder associated with severe platelet
dysfunction that yields prolonged bleeding time and a normal platelet coun

Question 23

Cancer and benıgn tumors

Answer 23

 Cancer in patients younger than 20 yr is uncommon

During the 1
st yr of life, embryonal tumors such as neuroblastoma,
nephroblastoma (Wilms tumor), retinoblastoma, rhabdomyosarcoma,
hepatoblastoma, and medulloblastoma are most common

Embryonal tumors, acute leukemias, non-Hodgkin lymphomas, and gliomas
peak in incidence from 2-5 yr of age.

bone malignancies, Hodgkin disease, gonadal germ celi malignancies
(testicular and ovarian carcinomas), and other carcinomas increase in
incidence

Question 24

The most notable germime genetic conditions that impart susceptibility to childhood cancer are

Answer 24

Li-Fraumeni (P53) syndrome

 neurofibromatosis types 1 and 2, Down syndrome,

 neurofibromatosis types 1 and 2, Down syndrome,

 neurofibromatosis types 1 and 2, Down syndrome,

von Hippel-Lindau disease

xeroderma pigmentosum,

ataxia-telangiectasia

Nevus basal celi carcinoma syndrome