Alports Syndrome Flashcards
1
Q
what is it?
A
hereditary nephritis
2
Q
who gets it
A
1-2% of patients with ESRD
X-linked inheritance
disorder of type IV collagen matrix
mutation (COL4A5 gene) - deficient collagenous matric
3
Q
how does it present?
A
haematuria - non-visible microscopic on dipstick
protein later - bad prognosis
extra-renal
- sensorineural deafness
- ocular defects - anterior lenticonus
- leiomyomatosis (smooth muscle tumours) of oesophagus/ genitalia - rare
4
Q
how is it investigated?
A
suspect in haematuria +/- hearing loss
renal biopsy - variable thickness GBM
5
Q
how is it managed?
A
aggressive BP, proteinuria treatment
dialysis/ transplantation
