renal rare disease research valerie said conti esther zammit alex felice isabella borg
TRANSCRIPT
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