Question | Answer |
What is an autosomal dominant disorder and give two examples? | heterozygous state – one normal and one diseased allele. Ex. Osteogenesis imperfect and marfan syndrome |
What is an autosomal recessive disorder and give two examples? | both alleles are mutant. Ex. Sickle cell, cystic fibrosis and Tay Sach’s |
What is an x-linked disease and give examples? | in males where the x chromosome carries the mutant allele. Hemophilia, Lesch-Nyhan, Duchenne muscular dystrophy. |
What is the distribution of total body water in the ECF and ICF? | ECF=33%, ICF=66% |
What is the body compartment with 75% of ECF water? | Interstitial fluid |
What constituents are found in blood? | Plasma, cells |
What are the major ECF electrolytes? | Na and Cl |
What are the major ICF electrolytes? | K and HPO4 |
Define osmolality. | osmolality of a fluid is proportional to the total [] of all dissolved molecules |
What is the clinical significance of osmolality during hyperglycemia? | water moves out of the ICF of neurons and into the ECF causing unconsciousness. |
Patient X has liver or renal disease, severe burns and Kwashiorikor. What can this patient have? | edema |
When does a buffer exhibit maximum buffering capacity? | when the pH (of a solution)=pKa (of buffer) |
When the pH of a solution is lower than the pKa of a buffer what will be favoured, the weak acid or conj base? | weak acid |
What is the ratio of [acid]:[base] 1 unit below the pKa of a buffer? | 10:1 |
What are the 3 steps involved in CO2 transport to the lungs? | 1. Metabolic process produce CO2 with enters RBC 2.carbonic anhydrase converts CO2 into H2CO3 3. H2CO3 donates a proton to Hb causing release of O2 |
What three process does the kidney do to maintain acid-base balance? | reabsorption of filtered bicarbonate, formation of new bicarbonate and secretion of H+ by phosphate pathway and ammonia pathway. |
What are the normal levels of PCO2 and HCO3? | PCO2=38-42 & HCO3=22-25 |
What can cause respiratory acidosis? | Lung disease, airway obstruction, chest wall muscle disease, opiods and anaesthetics. |
What happens to pH, PCO2 and HCO3 respectively during respiratory acidosis? | decr, incr, normal |
Patient X is trying to compensate for respiratory acidosis, what are the blood gas measurements for pH, PCO2, and HCO3 respectively? | Decr, incr, incr |
What happens to pH, PCO2 and HCO3 respectively during respiratory alkalosis? | incr, decr, normal |
Patient X is trying to compensate for respiratory alkalosis, what are the blood gas measurements for pH, PCO2, and HCO3 respectively? | incr, decr, decr |
What happens to pH, PCO2 and HCO3 respectively during metabolic acidosis? | decr, decr, decr |
Patient X is trying to compensate metabolic acidosis, what are the blood gas measurements for pH, PCO2, and HCO3 respectively? | decr, decr, decr |
What happens to pH, PCO2 and HCO3 respectively during metabolic alkalosis? | incr, incr, incr |
Patient X is trying to compensate for metabolic alkalosis, what are the blood gas measurements for pH, PCO2, and HCO3 respectively? | incr, incr, incr |