Renal Rare Disease Research

1
Renal Rare Disease Research

• Valerie Said Conti
• Esther Zammit
• Alex Felice
• Isabella Borg

2
Objectives

• Build renal rare disease collection at Malta
  BioBank
• Explore for new gene defects

3
Rare renal diseases

• Congenital nephrotic syndrome
• Congenital anomalies of the kidney and urinary
  tract
• Bartters syndrome
• Oculo-cerebro-renal syndrome of Lowe

4
Congenital nephrotic syndrome 1 in 10 000

• 18 families over 30 years
• Defect in NPHS1 gene
• ?Modifier genes

5
CAKUT 3-6 in 1000

• Disturbance in development of kidneys
• Commonest cause of failing kidneys in children
• Understanding how and why defects occur

6
Bartters syndrome 1 in 1,000 000

• 8 families
• New defect in KCNJ1 gene, Bartters type 2

7
Lowes syndrome 1 in 500,000

Pediatric Nephrology, December 2014
10.1007/s00467-014-3013-2
8
Thank you

• Acknowledgements
• LifeCycle Malta Foundation
• Malta BioBank at University of Malta
• Department of Health
• Patients and relatives at MDH
• Nursing staff at COP and PDCU at MDH