The ultrastructural abnormalities present in the image are suspicious for what underlying disease?
The electron photomicrograph demonstrates two abnormal glomerular basement membranes characterized by scalloping, irregularity, and multilamination/”basket-weaving.” These findings are highly suspicious for Alport syndrome. Alport syndrome is an inherited disease secondary to mutations in the alpha 3, 4, and 5 subunits of type IV collagen. The most common form of the mutation, comprising approximately 65-85% of mutations, occurs via X-linked inheritance and involves the COL4A5 gene.
Interestingly, with this form of Alport syndrome, the nature of the mutation can have a significant influence on the phenotype in males while the disease in females is dependent not only the nature of the mutation but the degree of X-inactivation. Other forms of the disease demonstrate autosomal inheritance (dominant as well as recessive forms) and are secondary to mutations in COL4A3 and COL4A4 located on chromosome 2. Ultimately, genetic testing is required for confirmation of the underlying mutation.
Quick note: This post is to be used for informational purposes only and does not constitute medical or health advice. Each person should consult their own doctor with respect to matters referenced. Arkana Laboratories assumes no liability for actions taken in reliance upon the information contained herein.
