RENAL Flashcards
1
Q
A 17-year-old boy presents to the GP with his carer. It was noticed that the water in the toilet pan was pink-tinged after he had used it.
past medical history of retinitis pigmentosa.
BP: 147/95mmHg
Urine DIP:
Blood ++++
Protein +
Diagnosis?
Common symptoms?
A
Alport’s syndrome: X-linked dominant defect in the alpha chain of type IV collagen.
Symptoms: Nephritic Syndrome - haematuria, hypertension, frothy urine
Ophthalmological: cataracts, retinitis pigmentosa.
Auditory: sensorineural hearing loss
2
Q
Investigations for Alport Syndrome
A
Audiometry
Urinalysis
U&Es
Renal biopsy: gold-standard diagnostic investigation (longitudinal splitting of the lamina densa (part of the GBM) with short stubs of fibrils, causing a ‘basket-weave’ appearance)
