Basal Lamina clinical relevance Flashcards
What are the diseases associated with type 4 collagen?
Alport’s syndrome and Goodpasture’s syndrome
What are the conditions associated with laminins?
Laminin a2-dystrophy (merosin deficiency)
Epidermolysis bullosa
Pierson syndrome
Dilated cardiomyopathy
What types of mutations occur in Alport’s syndrome?
Mutations in C-terminal globular domain of certain collagen 4 chains
What happens during Goodpasture’s syndrome?
autoantibodies bind to the 3 chains of type 4 collagen in the glomerular basement membrane and lungs
What are the symptoms of Alport’s syndrome?
Progressive renal failure, sensorineural hearing loss, and ocular abnormalities
What are symptoms of Goodpasture’s syndrome?
Progressive renal failure and pulmonary hemorrhage
What mutation is associated with Laminin a2-dystrophy?
LAMA2 gene
What mutation is associated with epidermolysis bullosa?
LAMB3
What mutation is associated with Pierson syndrome?
LAMB2
What mutation is associated with dilated cardiomyopathy?
laminin A/C
If you are given the following clinical features, what syndrome are we talking about?
- Mutations in Fibrillin-1
- Autosomal dominant
- Skeletal abnormalities (myopia)
- pectus excavatum
- pneumothorax
- bilateral subluxation
- dissecting aortic aneurysm
Marfan syndrome
If you are given the following clinical features, what syndrome are we talking about?
- Hereditary nephritis
- Mutations in collagen 4 a3, a4, and a5 chain genes, collagen 4 defects
Alport syndrome
What disease do you have there is a deficiency in type-1 collagen, mutations in COL1A1 and COL1A2 genes. Brittle bones prone to fractures, bone deformities, short height, basilar invagination
Osteogenesis imperfecta (also known as Lobstein syndrome)
Structural weakness in connective tissue as a result of defective collagen structure happens during what disease?
Ehlers-Danlos Syndrome
