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Title

GENETICS AND CHRONIC RENAL DISEASES

Writers

MOMTAZ H.E.

Pages

 Start Page 21 | End Page 22

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Abstract

 Introduction: significant developments of molecular genetics in recent years have revealed new aspects of underlying causes of renal diseases which may be important in diagnosis, treatment and predicting their prognosis. This article reviews most recent findings in medical literature in the past five years about role of genetics in renal diseases especially in children. The aim of study was reviewing the most recent findings about role of genetics in renal diseases.Methods: keywords of “genetics” and “renal disease” were searched in “PubMed” database with date limit of 2006 to 2011. Relevant articles were reviewed and their findings and results were summarized.Results: some renal diseases are associated with only single gene such as: congenital nephritic syndrome of Finnish type 1 (NPHS1), steroid resistant nephrotic syndrome type 2 (NPHS2), steroid resistant nephroitic syndrome type 3 (PLCE1). In cystic renal disease contribution of other genes is now clear: PKD1 (ADPKD), PKHD1 (ARPKD), UMOD (medullary cystic disease), and BBS1 (bardet biedl syndrome), TSC1 (tuberous sclerosis). Renal tubular diseases have definite and occasionally multiple gene disorders for example proximal RTA (CA2), autosomal recessive distal RTA (AT6B1), and barter syndrome (NKCC2, ROMK). Multiple genes have found to be associated with metabolic causes of urolithaisis and also with congenital anomalies of kidney and urinary tract such as renal agenesis and vesicoureteral reflux. At last most recent studies have shown role of MYH9 and APOL1 genes in progression of renal disease to ESRD.Conclusion: Genetics has significant role in wide range of both rare and common renal diseases. Insight of pediatric nephrologists into this important issue and further researches may help to find more effective ways of their diagnosis, prevention and treatment.

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