Genetic Diseases of the Kidney

Foreman, John

Genetic Diseases of the Kidney

John Foreman^*

Division of Pediatric Nephrology, Duke University Medical Center, Durham, NC, USA

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Identifiers and Pagination:

Year: 2015
Volume: 8
Issue: Suppl 3: M7
First Page: 136
Last Page: 147
Publisher ID: TOUNJ-8-136
DOI: 10.2174/1874303X015080100136

Article History:

Received Date: 1/3/2015
Revision Received Date: 15/3/2015
Acceptance Date: 15/3/2015
Electronic publication date: 26/11/2015
Collection year: 2015

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© John Foreman ; Licensee Bentham Open.

open-access license: This is an open access article licensed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.

^* 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; E-mail: rsm20@columbia.edu

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.

Keywords: Basement membrane disorders, cystic kidney disease, genetics, genetic renal disorders, nephrotic syndrome, mutations, renal tubular acidosis.

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RESEARCH ARTICLE

Genetic Diseases of the Kidney

Article Information

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Abstract

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