Diseases Flashcards
Define Respiratory acidosis
serum pH is low and the primary disturbance is increased pCO2 because there is an issue with the lung’s ability to remove CO2.
Define Respiratory alkalosis
serum pH is high and the primary disturbance is decreased pCO2 because the lung is removing CO2 quickly (hyperventilation)
Define Metabolic acidosis
serum pH is low and you see a decreased [HCO3-] and a decreased PCO2.
Define Metabolic alkalosis
serum pH is high and you see an increase in [HCO3-] and PCO2
What happens in Diabetic ketoacidosis?
increased ketone bodies (an organic non volatile acids) will lower serum pH. If the kidney is functional, the kidneys will secrete more H+ into urine and secrete more HCO3- into circulation
Diarrhea will result in what type of pH disorder?
Metabolic acidosis
Pyloric stenosis will result in what type of pH disorder?
Metabolic alkalosis
Name the different types of respiratory acidosis
Airway obstructions, opioid drugs, disease in the phrenic nerve, Guillian Barre syndrome, Lung diseases: COPD, RDS, Fibrosis of lungs, muscle diseases affecting the chest wall.
How can you get respiratory alkalosis?
Going to high altitudes.
The following is an example of which pH imbalance? (Normal levels are in parenthesis) pH= 7.25 (7.4) PCO2 = 60 mmHg (38-42) HCO3-=26 mmol/L (22-25)
Respiratory Acidosis
Look at the following blood gas levels. What pH imbalance disorder is it?
pH=7.47 (7.4)
PCO2 = 20 mmHg (38-42)
HCO3- = 19 mmol/L (22-25)
Compensated Respiratory Alkalosis
Dried mucus can block the pancreatic duct and cause pancreatitis in these patients. What other complications could they have?
Cystic fibrosis
Name 3 diseases that may result in steatorrhea (fatty stool).
- Pancreatic disease
- Biliary tract obstruction
- Intestinal mucosal disease
Which type of glycogen storage is Pompe disease?
Type II
What is the name of glycogen storage disease Type III
Cori
Hers disease is which type of glycogen storage disease?
Type VI
What is the deficient enzyme in Von Gierke?
Glucose 6-phosphatase or glucose 6-phosphate translocase
Which type of glycogen storage is Tarui disease?
Type VII
A deficient lysosomal glucosidase is associated with which disease?
Pompe disease Type II
McArdle syndrome is a defect in which enzyme?
Muscle glycogen phosphorylase
Type IV glycogen storage disease is named?
Andersen disease
Von Gierke disease is which type of glycogen storage disease?
Type I
Which enzyme is deficient in Cori disease?
glycogen debranching enzyme
Normal glycogen structure but high glycogen amount in the liver and the kidney is associated with which glycogen storage disease?
Type I
Von Gierke
Normal glycogen structure but high glycogen amount in only the muscle cells is associated with which glycogen storage disease?
McArdle
Type V
A deficiency with glycolysis PFK-1 in muscle and RBC is associated with which disease?
Tarui disease
Type VII
Normal amounts of cytosolic glycogen and structure but very high amounts of glycogen in lysosomes is associated with which disease?
Pompe disease
Type II
defective lysosomal glucosidase
High levels of normal glycogen in only the liver is associated with which disease?
Hers disease
Type VI
A defective glycogen branching enzyme is associated with which disease?
Andersen disease
Type IV
Normal amount of glycogen everywhere but the structure is abnormal. There are short branches, limit dextrinosis. Which disease is it associated with?
Cori Disease
Type III
Scarring of the liver due to unbranched glucose chains in glycogen is associated with which disease?
Andersen
Type IV
Hers disease is associated with which defective enzyme?
Liver glycogen phosphorylase
Which disease is associated with these symptoms?
Liver: severe hypoglycemia
Hepatomegaly
Kidney disease
Early death if untreated, treatable by uncooked
corn starch meal at night or nocturnal gastric
glucose infusion
Von Gierke
Type I
Which disease is associated with these symptoms? Liver: infantile cirrhosis Hepatomegaly due to cirrhosis Muscle: infantile hypotonia Early death
Andersen
Type IV
Which disease is associated with these symptoms?
Heart, liver, muscle: early death by heart failure
Massive cardiomegaly,
Treatable with enzyme infusion
Normal blood glucose levels
Infantile and late-onset forms
Pompe
Type II
Which disease is associated with these symptoms?
Muscle: lack of ATP leads to muscle cramping,
no rise in lactate
RBC: lack of ATP leads to hemolysis
Normal blood glucose levels
Tarui
Type VII
Which disease is associated with these symptoms?
Muscle: weakness and cramping,
no increase of lactate in blood after exercise,
lack of ATP
Normal blood glucose levels
McArdle
Type V
Which disease is associated with these symptoms? Liver: mild hypoglycemia Muscle, heart: weakness, hypotonia, cardiomyopathy muscular dystrophy hepatomegaly
Cori
Type III
Which disease is associated with these symptoms?
Liver: mild hypoglycemia
Hepatomegaly, growth retardation
Hers
Type VI
Defective fructokinase results in which disease?
Essential fructosuria
Which disease is associated with these symptoms?
• Hypoglycemia after consuming fructose or sucrose
• Hepatocellular failure
• jaundice
• positive clinitest
Hereditary Fructose Intolerance
Aldolase B defect
Which enzyme is deficient in galactose 1-phosphate uridyl transferase?
Classical Galactosemia
Does Nonclassical galactosemia result in liver disease?
No, there is no buildup of toxic galactose 1 phosphate
ALS is a defect in which enzyme?
Superoxide dismutase
Chronic granulomatous disease is a defect in which enzyme?
NADPH oxidase deficiency
Myeloperoxidase deficiency results the inability of immune cells to fight off what type of infection?
Fungal infections.
Myeloperoxidase makes hypochlorous acid (HOCL) which is needed for destruction of fungi
Leber Hereditary Optic Neuropathy
defect in NADH dehydrogenase (complex I). Rapid optic nerve death, leading to blindness in young adult life
Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF)
using succinic dehydrogenase stain will show ragged red fibers. Mitochondria are disorganized
MELAS
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
