ALPORT SYNDROME Flashcards
What is the inheritance pattern of Alport’s syndrome?
X-linked dominant pattern
In about 85% of cases, with 10-15% inherited in an autosomal recessive fashion.
What defect causes Alport’s syndrome?
Defect in the gene coding for type IV collagen
This defect results in an abnormal glomerular-basement membrane.
How does Alport’s syndrome severity differ between genders?
More severe in males; females rarely develop renal failure.
What complication can occur in an Alport’s patient with a failing renal transplant?
Presence of anti-GBM antibodies leading to a Goodpasture’s syndrome-like picture.
At what age does Alport’s syndrome usually present?
Childhood.
What is lenticonus?
Protrusion of the lens surface into the anterior chamber.
What is a characteristic finding in renal biopsy for Alport’s syndrome?
Longitudinal splitting of the lamina densa on electron microscopy.
What types of tests are used for the diagnosis of Alport’s syndrome?
- Molecular genetic testing
- Renal biopsy
- Electron microscopy
What is the characteristic appearance of the glomerular basement membrane in Alport’s syndrome?
‘Basket-weave’ appearance.
What is Alport syndrome?
A genetic condition caused by an inherited defect in type IV collagen.
What are the primary clinical features of Alport syndrome?
- Progressive renal failure
- Sensorineural hearing loss
- Ocular issues, LENTICONUS
- Smooth muscle tumors (leiomyomas)
- Rarely aortic dissection.
What causes progressive renal failure in Alport syndrome?
Glomerular-basement membrane abnormality.
Are cardiac defects associated with Alport syndrome?
No, cardiac defects are not associated with Alport syndrome.
What can occur in very rare cases of early-onset Alport syndrome?
Aortic dissection due to vessel wall defects.
What congenital conditions are associated with a high-arched palate?
- Marfan syndrome
- Ehlers-Danlos syndrome.
Is a high-arched palate a feature of Alport syndrome?
No, it is not a feature of Alport syndrome.
Are neurological and cognitive issues such as learning difficulties associated with Alport syndrome?
No, they are not associated with the condition.
