As a leading research services provider specializing in rare skin diseases, our company is committed to advancing scientific understanding and developing innovative solutions for complex medical challenges. In addition to our expertise in dermatological conditions, we also provide targeted services for CAKUT, including the development of therapeutic approaches and customized animal models to support cutting-edge research and healthcare innovation.
Introduction to CAKUT
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) encompass a spectrum of structural malformations affecting the kidneys and urinary tract with a prevalence estimated at 3-6 per 1,000 live births. These conditions are among the most common causes of chronic kidney disease in children. Emerging research highlights genetic and environmental factors as key contributors to the etiology of CAKUT, necessitating comprehensive approaches for early diagnosis and intervention.
Fig.1 Main extra-kidney manifestations associated with monogenic CAKUT. (Kagan, M., O. Pleniceanu, and A. Vivante., 2024)
Pathogenesis of CAKUT
The pathogenesis of CAKUT involves disruptions in the intricate process of kidney and urinary tract development, often stemming from genetic and molecular defects. Key mechanisms include impaired ureteric bud (UB)-mesenchymal crosstalk, mutations in critical growth factors like GDNF and RET, and disruptions in nephrogenesis that result in anomalies such as renal agenesis, dysplasia, or hypoplasia. Genetic factors, including monogenic mutations and copy number variants (CNVs), play a significant role, with incomplete penetrance and variable expressivity contributing to phenotype variability.
Fig.1 Embryonic kidney and urinary tract development. (Stonebrook, E., M. Hoff, and J. D. Spencer., 2019)
Therapeutics Development for CAKUT
The landscape of therapeutic development for Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) has been revolutionized by the advent of gene therapy and cell therapy. These cutting-edge approaches offer targeted and personalized treatment options, addressing the underlying genetic or cellular causes of these conditions.
Gene therapy aims to rectify genetic mutations by introducing, removing, or altering genetic material. For instance, studies utilizing animal models, mice with targeted mutations in the HNF1B gene, have demonstrated that CRISPR-mediated correction can lead to improved kidney development and function. These discoveries open new avenues by demonstrating the ability to target genetic defects directly at their origin.
Cell therapy involves the transplantation or stimulation of specific cells to repair or replace damaged tissues or organs. For CAKUT, stem cell-based therapies present a novel strategy to regenerate kidney tissue and restore function. Research is ongoing to harness pluripotent stem cells and induced pluripotent stem cells (iPSCs) to differentiate into nephron progenitor cells, aiming to support the development and repair of renal structures.
Our Services
At our company, we take pride in offering a comprehensive range of services to support our clients in developing groundbreaking treatments for CAKUT. Our team of skilled researchers, nephrologists, and geneticists harness advanced technologies and extensive industry expertise to accelerate the advancement of your therapeutic projects.
Diseases Model Development
- Genetically Engineering Model
- Induced Disease Model
- Humanized Animal Model
- Syngeneic Model
- Xenograft Model
Types of CAKUT
With our profound expertise, we are committed to advancing the research and development of treatments for CAKUT. By acknowledging the unique genetic and developmental characteristics of each condition, our team provides tailored solutions to expedite the discovery and implementation of effective therapies.
| A-N |
P-R |
S-V |
- Alport Syndrome
- Cystinuria
- Familial Kidney Stone Disease
- Fraser's Syndrome
- Hypoparathyroidism, Deafness, Renal Disease Syndrome (HDR Syndrome)
- Kallmann's Syndrome
- Nephropathic Cystinosis
|
- Perlman's Syndrome
- Polycystic Kidney Disease (PKD)
- Primary Hyperoxaluria
- Proliferative Lupus Nephritis
- Renal Coloboma Syndrome
- Renal Cysts and Diabetes Syndrome
- Renal Hypodysplasia or Aplasia
- Renal Tubular Dysgenesis
|
- Simpson-Golabi-Behmel Syndrome
- Split-Hand–Split-Foot Malformation
- Townes-Brocks Syndrome
- Urofacial Syndrome
- Vesicoureteral Reflux
|
At our company, we are committed to providing comprehensive, one-stop preclinical development services that cover every aspect. We also offer
pharmacokinetics and
drug safety evaluation services to ensure a complete and seamless experience for our clients If you are interested in our services, please don't hesitate to
contact us.
References
- Kagan, M., O. Pleniceanu, and A. Vivante. "The Genetic Basis of Congenital Anomalies of the Kidney and Urinary Tract." Pediatr Nephrol 37.10 (2022): 2231-43.
- van de Hoek, G., et al. "Functional Models for Congenital Anomalies of the Kidney and Urinary Tract." Nephron 129.1 (2015): 62-7.
- Stonebrook, E., M. Hoff, and J. D. Spencer. "Congenital Anomalies of the Kidney and Urinary Tract: A Clinical Review." Curr Treat Options Pediatr 5.3 (2019): 223-35.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.
