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Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
J Am Soc Nephrol 2018; 29(1):36-50JA

Abstract

Congenital anomalies of the kidneys and urinary tract (CAKUT) comprise a large spectrum of congenital malformations ranging from severe manifestations, such as renal agenesis, to potentially milder conditions, such as vesicoureteral reflux. CAKUT causes approximately 40% of ESRD that manifests within the first three decades of life. Several lines of evidence indicate that CAKUT is often caused by recessive or dominant mutations in single (monogenic) genes. To date, approximately 40 monogenic genes are known to cause CAKUT if mutated, explaining 5%-20% of patients. However, hundreds of different monogenic CAKUT genes probably exist. The discovery of novel CAKUT-causing genes remains challenging because of this pronounced heterogeneity, variable expressivity, and incomplete penetrance. We here give an overview of known genetic causes for human CAKUT and shed light on distinct renal morphogenetic pathways that were identified as relevant for CAKUT in mice and humans.

Authors+Show Affiliations

Divison of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.Divison of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.Divison of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts Friedhelm.Hildebrandt@childrens.harvard.edu.

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

29079659

Citation

van der Ven, Amelie T., et al. "Novel Insights Into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract." Journal of the American Society of Nephrology : JASN, vol. 29, no. 1, 2018, pp. 36-50.
van der Ven AT, Vivante A, Hildebrandt F. Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol. 2018;29(1):36-50.
van der Ven, A. T., Vivante, A., & Hildebrandt, F. (2018). Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract. Journal of the American Society of Nephrology : JASN, 29(1), pp. 36-50. doi:10.1681/ASN.2017050561.
van der Ven AT, Vivante A, Hildebrandt F. Novel Insights Into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol. 2018;29(1):36-50. PubMed PMID: 29079659.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract. AU - van der Ven,Amelie T, AU - Vivante,Asaf, AU - Hildebrandt,Friedhelm, Y1 - 2017/10/27/ PY - 2017/10/29/pubmed PY - 2019/7/16/medline PY - 2017/10/29/entrez KW - CAKUT KW - congenital anomalies of the kidneys and urinary tract KW - genetic kidney disease KW - monogenic disease SP - 36 EP - 50 JF - Journal of the American Society of Nephrology : JASN JO - J. Am. Soc. Nephrol. VL - 29 IS - 1 N2 - Congenital anomalies of the kidneys and urinary tract (CAKUT) comprise a large spectrum of congenital malformations ranging from severe manifestations, such as renal agenesis, to potentially milder conditions, such as vesicoureteral reflux. CAKUT causes approximately 40% of ESRD that manifests within the first three decades of life. Several lines of evidence indicate that CAKUT is often caused by recessive or dominant mutations in single (monogenic) genes. To date, approximately 40 monogenic genes are known to cause CAKUT if mutated, explaining 5%-20% of patients. However, hundreds of different monogenic CAKUT genes probably exist. The discovery of novel CAKUT-causing genes remains challenging because of this pronounced heterogeneity, variable expressivity, and incomplete penetrance. We here give an overview of known genetic causes for human CAKUT and shed light on distinct renal morphogenetic pathways that were identified as relevant for CAKUT in mice and humans. SN - 1533-3450 UR - https://www.unboundmedicine.com/medline/citation/29079659/Novel_Insights_into_the_Pathogenesis_of_Monogenic_Congenital_Anomalies_of_the_Kidney_and_Urinary_Tract_ L2 - http://jasn.asnjournals.org/cgi/pmidlookup?view=long&pmid=29079659 DB - PRIME DP - Unbound Medicine ER -