- Alport Syndrome
- Menkes Disease
- Osteogenesis Imperfecta (Brittle Bone Disease)
- Collagen Synthesis
- Ehlers-Danlos Syndrome
- Goodpasture Syndrome
Alport Syndrome is an X-linked dominant disorder that is characterized by a mutation in type IV collagen.
Defects in Type IV Collagen cause defective basement membranes in various organs, including the glomerulus, eye, and cochlea.
Defects in the glomerular basement membrane lead to glomerulonephritis, which manifest as a "basket-weave" pattern on electron microscopy. Retinal, lens, and corneal involvement can lead to a number of eye problems, including cataracts, retinopathy, and lens dislocation. Defects in the cochlear basement membrane lead to sensorineural deafness.
Find Alport Syndrome and more Collagen Related Disorders among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.