Disease Flashcards
1
Q
Cystic Fibrosis
A
Genetic Dx with mutation gene for CFTR (Cystic Fibrosis Transmembrane Regulator)
Diagnosed by 2 yo (typical scares and cyst in the pancreas)
Affect lungs + pancreas + liver + guts
Abnormal transport of electrolytes across epithelium (Cl, Na, Bicarbonates)
Thick mucus secretion
2
Q
Gout
A
Uric acid accumulation in joints => arthritis type dx
Mot often joint affected = big toe (metatarsophalangeal joint)
Uric acid = end-product of purine metabolism
Excretion: 2/3 renally – 1/3 via GI tract
Hyperuricemia can be asymptomatic
Normal level of UA in serum
Male: 2-6.5 mg / dL
Female: 3.5-7.2 mg / dL
