Diseases & Drugs Flashcards
1
Q
- Severe motor and cognitive retardation
- Corneal clouding
- skeletal abnormalities, hepatosplenomegaly
- TEM reveals many cytoplasmic vacuoles “inclusion bodies” positive stain with Sudan Black B (lipids) and PAS (glycogen)
- increased levels of lysosomal enzymes in plasma
- mutation in cis-Golgi located GlcNAc phosphotransferase -> absence of mannose 6-phosphate tag over enzymes targeted to lysosomes
A
I-Cell Disease
2
Q
- Hemoglobinuria
- Defect in GPI anchors leading to improper anchoring of DAF and CD59
- Diagnosis by Ham’s test: defective RBCs lyse at pH6.2 but not normal RBCs
- mutation in PIG-A gene
A
Paroxysmal Nocturnal Hemoglobinuria
3
Q
- x-linked recessive
- iduronate sulfatase (I2S) deficiency
- symptoms similar to hurler syndrome but no corneal clouding
- physical deformity and mental retardation can be mild to severe, Mongolian blue spots and popular rash
- degradation of Heparan Sulfate and dermatan sulfate,, so they accumulate
A
Hunter Syndrome
4
Q
- autosomal recessive
- alpha-L-iduronidase deficiency
- Symptoms include: corneal clouding, coarse facies, skeletal abnormalities, otitis media, heptosplenomegaly, progressive and profound mental retardation, cardiomyopathy
- Accumulation of Heparan Sulfate and dermatan sulfate
A
Hurler Syndrome
5
Q
- developmental delay, severe mental retardation, hyperactivity, challenging behavior, sleep disturbance, loss of skills and slow deterioration into vegetative state
- defect in catabolism of heparin sulfate
- accumulation of heparin sulfate
A
Sanfilippo
6
Q
- Deficiency of dipamitoyl lecithin (dipalmitoyl
- Lack of surfactant in alveoli of lungs
- Begins shortly after birth
- tachypnea, tachycardia, chest wall retractions, expiratory grunting, flaring of nostrils, cyanosis
A
Infant Respiratory Distress Syndrome
7
Q
antiobesity drug that inhibits gastric and pancreatic lipase, thereby decreasing fat absorption
A
Orlistat
8
Q
drug that reduces the absorption of cholesterol
A
Ezetimibe
9
Q
- Presence of excess fat in feces
- Stools having oily appearance,diffucult to flush, foul smelling
- lack of bile acids (due to liver damage, cholecystectomy), defects in or deficiency of pancreatic enzymes, defective mucosal cells
A
Steatorrhoea
10
Q
- inability to maintain an adequate blood glucose level
- doll-like face with fatty cheeks
- relatively thin extremities and short stature
- protuberant abdomen
- hepatomegaly, renalmegaly
- hepatocytes are distended by glycogen and fat
- large, prominent lipid vacuoles
- lactic acidosis
- ketoacidosis
- metabolic acidosis
- neutropenia
- hyperuricemia
- hyperlipidemia
- severe fasting hypoglycemia
- In GSD Ib: bleeding and infection risk from neutropenia and neutrophil dysfunction
A
Von Gierke’s Disease
11
Q
- deficiency in glucose-6-phosphatase
- mutation of G6PC gene [GSD Ia] or gene for Tranlocase1 protein [GSD Ib]
A
Von Gierke’s Disease (the deficient enzyme)
12
Q
converts glucose 6-phosphate to glucose
A
glucose 6-phosphatase
13
Q
- accumulation of glycogen in lysosomes of muscle and other cells
- floppy baby
- frog-like position of legs
- difficulty sucking/swallowing
- failure to meet developmental milestones (rolling over, sitting up, crawling, etc)
- severe cardiomegaly-> heart failure
- weak diaphragm -> difficulty breathing
- respiratory failure -> ventilator
- digestion problems
- PAS positive stain in muscle biopsy
A
Pompe’s Disease
14
Q
- mutation in GAA gene (acid alpha glucosidase)
- deficiency of lysosomal acid alpha-1,4 glucosidase or acid alpha-1,6 glucosidase or both (acid maltase)
A
Pompe’s Disease (the deficient enzyme)
15
Q
- Exercise intolerance: brief intense activity, less intense sustained activity
- Muscle cramps
- Myoglobinuria after exercise, can lead to acute renal failure
- Elevated serum creatine kinase 3 (CK-MM) at rest, increases after exercise
- Increased levels of blood ammonia, inosine, hypoxanthine, and uric acid
- Diagnosis by Ischemic exercise test: squeeze rubber ball with BP cuff tied to the arm (lack of increase in blood lactate and exaggerated blood ammonia elevations suggest defect in conversion of glycogen or glucose to lactate
A
McArdle’s Disease
16
Q
- Ashkenazi Jews and Japanese population
- similar symptoms of McArdle’s disease
- hemolysis
- increased bilirubin levels
- jaundice
A
Tarui’s Disease
17
Q
- accumulation of glycogen with long outer branches with very few branch points
- Failure to thrive
- hypotonia
- hepatomegaly
- splenomegaly
- progressive liver cirrhosis and failure
A
Anderson Disease
