CPHON FINAL EXAM
What are the clinical findings with Diamond Blackfan Anemia? - - ✔ ✔
Anemia ( most common) The following in <50% - Cathie face - very light
blond heair, snub nose, wide set eyes, thick upper lip, "intelligent looking" ,
cleft palate or lips - Thumb abnormalities - Short stature with LBW -
Cardiac defects - hypoplastic fenitalia, duplicate ureters, horseshoe kidneys
What are the lab findings for a Diamond Blackfan Anemia ? - - ✔ ✔
macrocytic anemia - decreased or absent reticulocytes - increased
platelets >400k - increased fetal hbg - BM bx/a shows erthroid hypoplasia
or aplasia
Dx of Diamond Blackfan Anemia is by: - ✔ ✔ BM bx/a : anemia,
reticulocytopenia and absence of erythriod percursors
T/F Most patients with Diamond Blackfan Anemia need a short course of
steriods to correct the issues. - ✔ ✔ False Chronic steriods; maintained
on low dose steriods
Pts is Diamond Blackfan Anemia have an increase risk of ? - ✔ ✔ -
leukemia - MDS
Transient Erthroblastopenia of childhood is commonly found : - - ✔ ✔
between ages 1-3 (peak @ 23 months) - with recent hx of viral illness or
vaccination
Clinical presentation of Transient Erthroblastopenia of childhood is : - - ✔
✔ anemia - recent hx of viral illness - normocytic anemia ( w/o any other
cytopenias of familial hx of anemia)
Tx of Transient Erthroblastopenia of childhood : - observation - - ✔ ✔
single transfusion if anemia with flow murmur or tachycardia
Prognosis of Transient Erthroblastopenia of childhood : - ✔ ✔ 4-6 weeks
spontaneously usually without relapse
, Schwachman-Diamond Syndrome is: - - ✔ ✔ rare autosomal recessive
disease - characterized by pancreatic insufficiency, failure to thrive, skeletal
abnomalities, and BM dysfunction
The pathophysiology of Schwachman-Diamond Syndrome: - - ✔ ✔
exocrine pancreatic insufficiency - ancini cells do not develop and
become replaced by fatty tissue & its digestive enzymes can not reach the
GI tract to assit with digestion > malabsorption & malnutrition > fatyy, foul
smelling stools, stomach pain, and cramping ( usually resolved around age
4) BM dysfxn: life long, chronic neutropenia. Have neutrophils but
defective. Defects in B and T cells, and immunoglobins. 1/3 convert to AML
or MDS
Schwachman-Diamond Syndrome genetic defect is believed to be on
chromosome? - ✔ ✔ 7
Incidence of Schwachman-Diamond Syndrome is: - ✔ ✔ 1 in 20,000
births incr'd in male
What is the clinical presentation of Schwachman-Diamond Syndrome? - -
✔ ✔ FTT - unexplained weight loss - diarrhea - steatorrhea - eczema -
frequent bacterial infections - heme issues: easy bruising, petechiae,
bloody emesis, bloody stool - webbed toes or fingers may be present
Tx of Schwachman-Diamond Syndrome: - - ✔ ✔ pancreatic enzyme
replacement - fat soluble vitamins - proph abx
Specific Dx Test for Schwachman-Diamond Syndrome: - - ✔ ✔ 72 hour
fevel fat test - sweat test - pancreatic stimulation testing - serum
immunoreactive trypsinogen - complete metabolic profile
Neutropenia is: - - ✔ ✔ ANC < 1500 cells/mm3 mild (ANC 1000 - 1500)
moderate (500-1000) severe (<500)
Neutrophils last ________ with a half life of _________. - ✔ ✔ 1-2 days
8 hours
What are the clinical findings with Diamond Blackfan Anemia? - - ✔ ✔
Anemia ( most common) The following in <50% - Cathie face - very light
blond heair, snub nose, wide set eyes, thick upper lip, "intelligent looking" ,
cleft palate or lips - Thumb abnormalities - Short stature with LBW -
Cardiac defects - hypoplastic fenitalia, duplicate ureters, horseshoe kidneys
What are the lab findings for a Diamond Blackfan Anemia ? - - ✔ ✔
macrocytic anemia - decreased or absent reticulocytes - increased
platelets >400k - increased fetal hbg - BM bx/a shows erthroid hypoplasia
or aplasia
Dx of Diamond Blackfan Anemia is by: - ✔ ✔ BM bx/a : anemia,
reticulocytopenia and absence of erythriod percursors
T/F Most patients with Diamond Blackfan Anemia need a short course of
steriods to correct the issues. - ✔ ✔ False Chronic steriods; maintained
on low dose steriods
Pts is Diamond Blackfan Anemia have an increase risk of ? - ✔ ✔ -
leukemia - MDS
Transient Erthroblastopenia of childhood is commonly found : - - ✔ ✔
between ages 1-3 (peak @ 23 months) - with recent hx of viral illness or
vaccination
Clinical presentation of Transient Erthroblastopenia of childhood is : - - ✔
✔ anemia - recent hx of viral illness - normocytic anemia ( w/o any other
cytopenias of familial hx of anemia)
Tx of Transient Erthroblastopenia of childhood : - observation - - ✔ ✔
single transfusion if anemia with flow murmur or tachycardia
Prognosis of Transient Erthroblastopenia of childhood : - ✔ ✔ 4-6 weeks
spontaneously usually without relapse
, Schwachman-Diamond Syndrome is: - - ✔ ✔ rare autosomal recessive
disease - characterized by pancreatic insufficiency, failure to thrive, skeletal
abnomalities, and BM dysfunction
The pathophysiology of Schwachman-Diamond Syndrome: - - ✔ ✔
exocrine pancreatic insufficiency - ancini cells do not develop and
become replaced by fatty tissue & its digestive enzymes can not reach the
GI tract to assit with digestion > malabsorption & malnutrition > fatyy, foul
smelling stools, stomach pain, and cramping ( usually resolved around age
4) BM dysfxn: life long, chronic neutropenia. Have neutrophils but
defective. Defects in B and T cells, and immunoglobins. 1/3 convert to AML
or MDS
Schwachman-Diamond Syndrome genetic defect is believed to be on
chromosome? - ✔ ✔ 7
Incidence of Schwachman-Diamond Syndrome is: - ✔ ✔ 1 in 20,000
births incr'd in male
What is the clinical presentation of Schwachman-Diamond Syndrome? - -
✔ ✔ FTT - unexplained weight loss - diarrhea - steatorrhea - eczema -
frequent bacterial infections - heme issues: easy bruising, petechiae,
bloody emesis, bloody stool - webbed toes or fingers may be present
Tx of Schwachman-Diamond Syndrome: - - ✔ ✔ pancreatic enzyme
replacement - fat soluble vitamins - proph abx
Specific Dx Test for Schwachman-Diamond Syndrome: - - ✔ ✔ 72 hour
fevel fat test - sweat test - pancreatic stimulation testing - serum
immunoreactive trypsinogen - complete metabolic profile
Neutropenia is: - - ✔ ✔ ANC < 1500 cells/mm3 mild (ANC 1000 - 1500)
moderate (500-1000) severe (<500)
Neutrophils last ________ with a half life of _________. - ✔ ✔ 1-2 days
8 hours
