[HTML][HTML] Molecular causes of congenital anomalies of the kidney and urinary tract (CAKUT)
S Kohl, S Habbig, LT Weber, MC Liebau - Molecular and cellular …, 2021 - Springer
… gene deletion (about 50% of cases), lead to heterogeneous malformations of the kidney and/or
the urinary tract and/… and bright kidneys with multiple small cysts and different degrees of …
the urinary tract and/… and bright kidneys with multiple small cysts and different degrees of …
[HTML][HTML] Clinical integration of genome diagnostics for congenital anomalies of the kidney and urinary tract
R Westland, KY Renkema… - Clinical Journal of the …, 2021 - journals.lww.com
… in genetic kidney diseases such as CAKUT ( 2 , 18 ). In this review, we discuss how these
genetic … of precision-medicine approaches for developmental kidney and urinary tract defects. …
genetic … of precision-medicine approaches for developmental kidney and urinary tract defects. …
Congenital anomalies of the upper urinary tract: a comprehensive review
AP Houat, CTS Guimarães, MS Takahashi, GP Rodi… - Radiographics, 2021 - pubs.rsna.org
… A horseshoe kidney is formed by fusion of two distinct functioning kidneys, one on each side
… Horseshoe kidney is the most common congenital anomaly of the upper urinary tract and …
… Horseshoe kidney is the most common congenital anomaly of the upper urinary tract and …
[HTML][HTML] Targeted exome sequencing provided comprehensive genetic diagnosis of congenital anomalies of the kidney and urinary tract
… Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause
of chronic kidney … Congenital anomalies of the kidney and urinary tract (CAKUT) are the most …
of chronic kidney … Congenital anomalies of the kidney and urinary tract (CAKUT) are the most …
Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study
R van De Putte, IALM Van Rooij, CLM Marcelis… - Pediatric …, 2020 - nature.com
… In addition, we categorized congenital anomalies that were not considered to be part of …
minor congenital anomalies. As we provided a complete overview, not all congenital anomalies …
minor congenital anomalies. As we provided a complete overview, not all congenital anomalies …
[HTML][HTML] Duplex kidney formation: developmental mechanisms and genetic predisposition
… can lead to a wide variety of abnormalities that are usually grouped … as congenital abnormalities
of the kidneys and urinary tract (CAKUT). Defects affecting the kidneys range from renal …
of the kidneys and urinary tract (CAKUT). Defects affecting the kidneys range from renal …
Genetics of kidney stone disease
SA Howles, RV Thakker - Nature Reviews Urology, 2020 - nature.com
… (NICE) recommend that all patients who have had an upper urinary tract calculus should
be screened for hypercalcaemic disorders with measurement of serum calcium 22,23,24 . The …
be screened for hypercalcaemic disorders with measurement of serum calcium 22,23,24 . The …
[HTML][HTML] Definition, diagnosis and management of fetal lower urinary tract obstruction: consensus of the ERKNet CAKUT-Obstructive Uropathy Work Group
V Capone, N Persico, A Berrettini, S Decramer… - … Reviews Urology, 2022 - nature.com
… or bilateral hydronephrosis on prenatal fetal ultrasonography usually alerts the clinician
to the possible presence of a congenital anomaly of the kidney and urinary tract 19 . Several …
to the possible presence of a congenital anomaly of the kidney and urinary tract 19 . Several …
[HTML][HTML] Urine-derived epithelial cells as models for genetic kidney diseases
T Bondue, FO Arcolino, KRP Veys, OC Adebayo… - Cells, 2021 - mdpi.com
… cells originating from the urinary tract [4,5], it expanded rapidly to cover all types of kidney
disorders, particularly genetic kidney diseases, as cells isolated from urine carry the genotypic …
disorders, particularly genetic kidney diseases, as cells isolated from urine carry the genotypic …
[HTML][HTML] Inherited tubulopathies of the kidney: insights from genetics
ML Downie, SCL Garcia, R Kleta… - Clinical Journal of the …, 2021 - journals.lww.com
… or urine to serious and life-threatening disorders of homeostasis. In this review, we focus
on genetic aspects of the tubulopathies and how genetic investigations and kidney physiology …
on genetic aspects of the tubulopathies and how genetic investigations and kidney physiology …