Alport syndrome

1. It is characterized by a triad of symptoms: hematuria (Kidney), sensorineural hearing loss (Ear), and ocular abnormalities (Eye). 


2. Most commonly caused by mutations in the COL4A5 gene, which encodes type IV collagen alpha-5 chain. This gene is located on the X chromosome.


3. Histology - “basket weave" appearance (splitting and lamination of lamination densaj of the basement membrane.



Feature

Collagen

Gene

Alport syndrome 

Type IV collagen 

(Alpha-5 chain)

COLA4A5

Goodpasture syndrome 

Type IV collagen 

(Alpha-3 chain)

-

Osteogenesis imperfecta 

(Brittle bone disease)

Type I collagen 

COL1A1 or COL1A2 


Reference:

1. Robbins & Cotran pathologic basis of disease (South asia edition), Vol. 2, P. No. 701, 924 

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