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Lower urinary tract development and disease
Hila Milo Rasouly1, Weining Lu
1Renal Section, Department of Medicine, Boston University Medical Center, Boston, MA, USA.
Insights
Congenital anomalies of the lower urinary tract (CALUT) are common birth defects affecting the ureter, bladder, and urethra. This review details their genetic basis and molecular development, aiding personalized medicine for affected children.
Area of Science:
- Developmental biology
- Genetics
- Pediatric urology
Background:
- Congenital anomalies of the lower urinary tract (CALUT) encompass a range of birth defects affecting the ureter, bladder, and urethra.
- These anomalies are frequently linked to complications such as hydronephrosis, vesicoureteral reflux (VUR), urinary tract infections (UTI), and potentially chronic kidney disease or renal failure in children.
- Examples of CALUT include ureteropelvic junction (UPJ) and ureterovesical junction (UVJ) abnormalities, bladder-exstrophy-epispadias complex (BEEC), prune belly syndrome (PBS), and posterior urethral valves (PUVs).
Purpose of the Study:
- To review the current understanding of lower urinary tract development.
- To explore the genetic and molecular basis of CALUT in human and mouse models.
- To provide insights for interpreting genetic test results and guiding personalized therapies for CALUT patients.
Main Methods:
- Review of existing literature on lower urinary tract development.
- Analysis of genetic and molecular data from human and mouse studies of CALUT.
- Compilation of information on genes, signaling pathways, and mutations involved in CALUT.
Main Results:
- Overview of developmental processes for ureter, bladder, and urethra formation.
- Identification of key genes and signaling pathways regulating lower urinary tract development.
- Presentation of human genetic disorders and associated gene mutations causing CALUT.
Conclusions:
- Understanding the genetic underpinnings of CALUT is crucial for advancing personalized medicine.
- This knowledge can improve the interpretation of genetic testing and inform tailored treatment strategies.
- Effective genetic counseling for families affected by lower urinary tract birth defects can be facilitated.
Abstract:
Congenital anomalies of the lower urinary tract (CALUT) are a family of birth defects of the ureter, the bladder, and the urethra. CALUT includes ureteral anomaliesc such as congenital abnormalities of the ureteropelvic junction (UPJ) and ureterovesical junction (UVJ), and birth defects of the bladder and the urethra such as bladder-exstrophy-epispadias complex (BEEC), prune belly syndrome (PBS), and posterior urethral valves (PUVs). CALUT is one of the most common birth defects and is often associated with antenatal hydronephrosis, vesicoureteral reflux (VUR), urinary tract obstruction, urinary tract infections (UTI), chronic kidney disease, and renal failure in children. Here, we discuss the current genetic and molecular knowledge about lower urinary tract development and genetic basis of CALUT in both human and mouse models. We provide an overview of the developmental processes leading to the formation of the ureter, the bladder, and the urethra, and different genes and signaling pathways controlling these developmental processes. Human genetic disorders that affect the ureter, the bladder and the urethra and associated gene mutations are also presented. As we are entering the postgenomic era of personalized medicine, information in this article may provide useful interpretation for the genetic and genomic test results collected from patients with lower urinary tract birth defects. With evidence-based interpretations, clinicians may provide more effective personalized therapies to patients and genetic counseling for their families.
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