Renal Rare Disease Research

Valerie Said ContiEsther Zammit

Alex FeliceIsabella Borg

Objectives

• Build renal rare disease collection at Malta BioBank

• Explore for new gene defects

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

Bartter’s syndrome 1 in 1,000 000

• 8 families

• New defect in KCNJ1 gene, Bartter’s type 2

Lowe’s syndrome 1 in 500,000

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

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