A 12 year old boy who has recently been diagnosed with a sensorineural hearing loss presents with haematuria. He has recently had a cold. He is wearing glasses and his mother states the optician said he an abnormality of the lens of his eye. From the following which is the most likely diagnosis?
Alport's syndrome
Bergers syndrome
Hemolytic Uraemic syndrome
Bartters syndrome
Minimal change disease
The correct answer is?
Well, as the title signifies : Alport syndrome.
This syndrome is an x-linked hereditary nephritis caused by mutations in type IV collagen.
Still remember the layers of glomerular basement membrane?
The three layers : lamina rara externa, lamina densa (which contains type IV collagen) and lamina rara interna.
Explanation regarding the above question :
Alports syndrome comprises of haematuria, progressive renal failure , sensorineural hearing loss and ocular abnormalities including perimacular flecks and corneal ulceration. Anterior lenticonus where there is an abnormal conical or spherical forward projection of the lens is pathognomonic. Similar to Bergers syndrome there can be frank haematuria following an URTI. There is persistent microscopic haematuria. The hearing loss begins late childhood or early adolescence. In alports syndrome there is a defect of the type IV collagen of the glomerular basement membrane which results in accumulation of Type V and VI collagen which leads to basement membrane thickening, impairment of selectivity and glomerulosclerosis and interstitial fibrosis.
