Division of Pediatric Nephrology, Duke University Medical Center, Durham, NC, USA
The number of genes associated with renal disease is increasing every day and this has led to a clearer
understanding of the pathophysiology of renal disease in many disorders. It is also appreciated now that a genetic
mutation(s) underlie many renal syndromes. Genetic testing may also offer the possibility to diagnose some renal diseases
without the need for a renal biopsy. It also allows the prenatal diagnosis of certain renal diseases in at risk fetuses or
identification of potential renal disease before it has become manifest. Finally, identification of a specific gene mutation
holds the possibility of correction though gene therapy in the future. It is increasingly clear that many renal disorders in
pediatrics are a consequence of genetic mutations. In the future, genetic testing will become as easy and as common as
ordering a serum creatinine today.
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* Address correspondence to this author at the Division of Maternal Fetal
Medicine, Department of Obstetrics and Gynecology, Columbia University
Medical Center, 622 West 168th Street, PH 16-66, New York, New York
10032, USA; Tel: (212) 305-6293; Fax: (212) 342-2717;