Learn / FMK
Every FMK condition
299 diseases, deficiencies, toxicities and drug mechanisms harvested from every FMK deck — the ones sprinkled through a single bullet as much as the ones with their own slide. Pick what you're given and what you have to name, or let it cycle; distractors come from the same category so you have to discriminate (hypoketotic vs. ketotic hypoglycemia, which GSD, which urea-cycle enzyme…). Every answer shows the whole card with the lecture and slide.
Genetic · FMK 02.3
Cystic fibrosis Autosomal recessive
Defect / target: CFTR (Cystic Fibrosis Transmembrane Conductance Regulator), an ABC-family Cl- channel; dF508 deletion causes misfolding (loss of function)
Mechanism: Defective CFTR chloride channel causes thick secretions in lungs and pancreas; lecture cites it as a disease whose causative allele could be replaced with a healthy variant via CRISPR-Cas9 homology-directed repair.
↑ Accumulates: Thick viscous mucus in airways, pancreatic ducts· ↓ Deficient: Epithelial Cl- secretion
Presentation: steatorrhea, failure to thrive, recurrent pulmonary infections, meconium ileus; CFTR also expressed in lungs, testes, sweat glands
Labs: Sweat chloride test; CFTR genotyping
Treatment: CFTR modulators, airway clearance, pancreatic enzyme replacement
Listed among ion-channel diseases; ABC = ATP-Binding-Cassette
Learn the mechanism: Lipid digestion & absorption →
FMK 02.3 Membrane Transport · slide 01.2: 01.2: 7; 02.3: 13, 18; 04.2: 6; 07.3: Applications and Implications of CRISPR-Cas9; 04.4: 5, 10, 28 · also mentioned in FMK 04.2 Types of Mutations, FMK 07.3 DNA Diagnostics, FMK 04.4 Lipid Digestion, Transport & Storage, FMK 01.2 Proteins, Carbohydrates, Lipids