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Currently filtering by tag: Alport Syndrome

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...

Art of Medicine: Alport Syndrome- A Review of Ultrastructural Abnormalities

The above painting depicts electron microscopy of a case of Alport syndrome.   Alport syndrome is a type of hereditary nephritis due to mutations in the alpha 3, alpha 4, or alpha 5 chains of collagen type IV.   As a result, the typical alpha 3-4-5 meshwork of type IV collagen in the GBM is replaced by an alpha 1-2 meshwork, which has less tensile strength and has susceptibility to proteolysis by matrix metalloproteinases (Zeisberg et al, 2006). Patients with Alport syndrome present with hematuria and progressive renal failure, and males are disproportionately affected.  Deafness and visual problems can also occur.  Kidney...

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.          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.   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.   Dr Curtis Atkin, who suffered from Alport syndrome...

Diagnose This (January 28, 2019)

GBM, glomerular basement membranes, diagnose this, arkana laboratories
What is your diagnosis?         ​ ​   ​   ​ ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​ ​   ​ ​   ​ ​   ​ ​     ​   ​   ​...

Alport IF

In patients suspected of having Alport syndrome, immunofluorescence staining can be used to detect abnormal expression of various alpha chains of type IV collagen. This biopsy from a young girl with hematuria shows discontinuous staining along Bowman's capsule and along the glomerular capillary loops for the alpha 5 chain of type IV collagen (green). In a female patient, this mosaic pattern of decreased or absent staining is suspicious for heterozygous X-linked Alport syndrome. Intact staining of the alpha 2 chains (red) serves as a positive internal control for tissue integrity.

Alport Syndrome

This biopsy from a 22-year-old Hispanic male with a history of hematuria, subnephrotic proteinuria, and chronic kidney disease shows essentially unremarkable glomeruli (Fig 1) with moderate interstitial fibrosis and tubular atrophy, and frequent interstitial foam cells (Fig 2).  Furthermore, electron microscopy shows irregular glomerular basement membranes (GBM) that vary between thick and thin, along with segmental lamellation and diffuse epithelial foot process effacement (Fig 3).  These findings, along with the clinical history are consistent with Alport syndrome. Alport syndrome is a spectrum of diseases affecting the synthesis of type IV collagen, which is the main component of the glomerular basement...

Alport Skin

The most common form of Alport syndrome shows an X-linked dominant inheritance pattern and is caused by mutations in the COL4A5 gene located in the Xq22 region that encodes for the alpha5 chain of type IV collagen. The glomerular basement membrane consists of alpha1, alpha2, alpha3, alpha4 and alpha5 chains, whereas no alpha6 chains are present.  Within the glomerular basement membranes, the alpha3, alpha4, and alpha5 form a network of collagen. Abnormalities, even in one of the chains, can alter this network formation. However, there will be persistence of the alpha1 and alpha2 chains. As a result, diagnosis of Alport is...