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Currently filtering by tag: X-linked

Diagnose This (August 31 ,2020)

Alport Syndrome, COL4A5, COL4A3, COL4A4, Alport, X-linked, Hearing loss, GBM multilamellation
Q: What is your diagnosis based on this IF staining pattern in a patient with hematuria and proteinuria?   The immunofluorescence image is that of an Alport panel. The red staining highlights the alpha 2 subunit of collagen type IV while the green staining is that of the alpha 5 subunit of collagen type IV. The image shows segmental loss of the alpha 5 staining of type IV collagen along the glomerular basement membranes compatible with Alport syndrome. Alport syndrome is an inherited disease secondary to mutations in the alpha 3, 4, and 5 subunits of type IV collagen. The...

Disease Week: Alport Syndrome

alport syndrome, disease week, arkana laboratories
Monday In 1927, Dr. Cecil Alport published a series on "hereditary familial congenital haemorrhagic nephritis" where he described its association with deafness and the gender differences in disease severity. https://www.ncbi.nlm.nih.gov/pubmed/20773074          Interestingly, Dr Alport initially believed the etiology of the disorder was an individual susceptibility to a toxin of an unknown organism, probably belonging to the streptococcal group. https://www.ncbi.nlm.nih.gov/pubmed/20773074   The pathogenesis of the disorder known as Alport syndrome remained unknown until early 1970's, when advances in electron microscopy allowed the identification of characteristic abnormalities in GBMs. https://www.ncbi.nlm.nih.gov/pubmed/4343992   Dr Curtis Atkin, who suffered from Alport syndrome...

Fabry Disease in Female Carriers

A renal biopsy was performed on a 51 year old female with strong family history of Fabry disease and a known carrier of an alpha-glycosidase gene (GLA) pathogenic variant. At the time of the biopsy, the patient had no renal or extrarenal manifestations. The biopsy shows glomeruli with prominent visceral epithelial cells (podocytes) displaying ample vacuolated cytoplasm (Fig 1, H&E; Fig 2, Jones). Furthermore, electron microscopy shows numerous large, lamellated lipid vacuoles (myeloid bodies or zebra bodies) within the podocytes, characteristic of Fabry disease (Fig 3). Fabry disease is an X-linked disorder caused by GLA mutation and the resulting deficiency...