Renal Rare Disease Research Valerie Said Conti Esther Zammit Alex Felice Isabella Borg.
8
Renal Rare Disease Research Valerie Said Conti Esther Zammit Alex Felice Isabella Borg
-
Upload
hortense-bradford -
Category
Documents
-
view
217 -
download
1
Transcript of Renal Rare Disease Research Valerie Said Conti Esther Zammit Alex Felice Isabella Borg.
Rare renal diseases
• Congenital nephrotic syndrome
• Congenital anomalies of the kidney and urinary tract
• Bartter’s syndrome
• Oculo-cerebro-renal syndrome of Lowe
Congenital nephrotic syndrome 1 in 10 000
• 18 families over 30 years
• Defect in NPHS1 gene
• ?Modifier genes
CAKUT 3-6 in 1000
• Disturbance in development of kidneys
• Commonest cause of failing kidneys in children
• Understanding how and why defects occur