Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract
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Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract. / van der Ven, Amelie T; Vivante, Asaf; Hildebrandt, Friedhelm.
In: J AM SOC NEPHROL, Vol. 29, No. 1, 01.2018, p. 36-50.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
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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
N1 - Copyright © 2018 by the American Society of Nephrology.
PY - 2018/1
Y1 - 2018/1
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.
AB - 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.
KW - Animals
KW - Congenital Abnormalities/genetics
KW - Extracellular Matrix/genetics
KW - Humans
KW - Morphogenesis/genetics
KW - Signal Transduction/genetics
KW - Urinary Tract/abnormalities
U2 - 10.1681/ASN.2017050561
DO - 10.1681/ASN.2017050561
M3 - SCORING: Review article
C2 - 29079659
VL - 29
SP - 36
EP - 50
JO - J AM SOC NEPHROL
JF - J AM SOC NEPHROL
SN - 1046-6673
IS - 1
ER -