alports + goodpastures

Question 1

alports inheritance pattern

Answer 1

X linked DOMINANT

Question 2

Alports syndrome

Answer 2

due to defect in the gene with codes for type IV collagen, resulting in an abnormal glomerular-basement membrane (GBM)

• more severe in males

Question 3

alports features

Answer 3

micrpscopic haematuria
progressive renal failure
bilateral sensorineural deafness

lenticonus = protrusion of lens into anterior chamber
retinitis pigmentosa

Question 4

what does alports look like on renal biopsy

Answer 4

electron microscopy
–> splitting of the lamina densa of the glomerular basement membrance

–> resulting in basket-weave appearance

Question 5

anti-glomerular basement membrane disease (goodpastures)

Answer 5

small vessel vasculitis assoc with;
- pulmonary haemorrhage
- rapidly progressive glomerulonephritis

Question 6

what causes anti-glomerular basement membrane disease (goodpastures)

Answer 6

by ant-glomerular basement membrane (anti-GBM) antibiodies again type IV collagen

• commoner in men
• bimodal age distribution - 20-30 & 60-70

Question 7

what gene is anti-glomerular basement membrane disease (goodpastures) assoc with

Answer 7

HLA DR2

Question 8

anti-glomerular basement membrane disease (goodpastures) presentation

Answer 8

pulmonary haemorrhage -> haemoptysis

rapidly progressive glomerulonephritis
- rapid onset acute kidney injury
- nephritis → proteinuria + haematuria

Question 9

anti-glomerular basement membrane disease (goodpastures) investigations

Answer 9

renal biopsy = linear IgG deposits along basement membrane

raised transfer factor secondary to pulmonary haemorrhage

Question 10

management of anti-glomerular basement membrane disease (goodpastures)

Answer 10

plasma exchange (plasmapheresis)
steroids
cyclophosphamide