ALPORT SYNDROME Flashcards
What is the collagen affected in Alport syndrome?
Type 4 collagen (α3α4α5)
What are the 3 characteristic findings in Alport Syndrome?
- KIDNEYS: inevitable progression to ESKD
- EARS: deafness
- EYES: ocular abnormalities
Alport syndrome usually manifests in which 2 population groups?
- CHILDREN
- YOUNG ADULTS
What is the difference in disease manifestations in patients with Alport syndrome in males vs females?
MALES: slow progression to ESKD
FEMALES: mild disease
Where is the site of aural lesion in Alport Syndrome?
COCHLEA
What is pathognomonic of Alport syndrome?
ANTERIOR LENTICONUS
What is the condition wherein there is protrusion of the central portion of the lens into the anterior capsule?
ANTERIOR LENTICONUS
What is a variant of Alport syndrome, which includes the association of hereditary nephritis with thrombocytopathia (megathrombocytopenia)
EPSTEIN SYNDROME
The diagnosis of Alport Syndrome is based on what histologic imaging?
EM
What are the 2 special stains that reveal thickening and lamellation of the GBM?
- JONES METHANAMINE SILVER STAIN
- PAS
How many types of Type 4 Collagen?
6 types
Which chain of type 4 collagen is found in all renal basement membranes?
Type IV α1, α1, α2
What chain of the type 4 collagen are present in mature GBM and distal tubular basement membrane (TBM)?
Type IV α3, α4, α5
What chain of type 4 collagen is found in Bowman’s capsule, collecting duct TBM, and in epidermal basement membrane?
Type IV α5, α5, α6
Absence of what kind of chain staining in skin biopsies is highly specific for the diagnosis of X-linked Alport syndrome?
α5
