Alport's Syndrome (Hereditary Nephritis) Flashcards
1
Q
define
A
X-linked disorder of type IV collagen matrix
2
Q
genetics
A
mutation on COL4A5 gene
3
Q
presentation
A
haematuria
proteinuria (seen later and confers bad prognosis)
4
Q
extra-renal manifestations
A
SNHL (deafness)
anterior lenticonus (protrusion of lens into anterior chamber)
leiomyomatosis of oesophagus and genitalia
5
Q
diagnosis
A
- suspect in haematuria +/- hearing loss
- renal biopsy= variable thickness of GBM
6
Q
when is renal biopsy contra-indicated?
A
thrombocytopenia small kidneys uncontrolled hypertension (bleeding risk) untreated UTI (secondary haemorrhage) coagulation defects
7
Q
management
A
manage BP and proteinuria
dialysis/transplant
