Paediatric renal disease

Question 1

1.

Alport syndrome : Definition

Answer 1

Alport syndrome - genetic disease which results in mutations in Type IV collagen

Type IV collagen is found: glomerulus of the kidney, the eye and the cochlea.

Question 2

Alport syndrome : Inheritance

Answer 2

X-linked dominant pattern

Question 3

Alport syndrome :Pathophysiology

Answer 3

** Missing or non functional type IV collagen **
1. **GBM to become thin and overly porous **
- leading to haematuria, proteinuria - leading to renal failure and renovascular hypertension.
Goodpasture syndrome can also be present with the presence on anti-gbm antibodies

2. Hearing loss - not normally present at birth but may be present in early childhood
3. Anterior lenticonus - centre part of the lens starts to push into the anterior chamber because the anterior lens capsule lacks the integrity to maintain the shape of the lens resulting in myopia.

Question 4

Alport syndrome : Clinical features

Answer 4

Features of Alpert’s syndrome - normally presents in childhood
* Microscopic haematuria
* Progressive renal failure
* Bilateral sensorineural deafness
* Lenticonus - protrusion of the lens surface into the anterior chamber
* Retinitis pigmentosa

Question 5

Alport syndrome : Diagnosis

Answer 5

1. Molecular genetic testing
2. Renal biopsy
   - Electron microscopy : characteristic finding is of the longitudinal splitting of the lamina densa of the glomerular basement membrane resulting in a ‘basket-weave’ appearance.