Polycystic Kidney Disease (PKD)
Fig.1 Insights into pathobiology of ADPKD from human and animal genetic studies. (Lanktree, M. B., et al., 2022)Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys, ultimately leading to kidney failure. In the field of research and therapy development for rare diseases like PKD, our company stands out as a leader with state-of-the-art facilities, cutting-edge technology, and extensive experience. We offer a comprehensive one-stop service for researchers interested in studying these conditions.
Overview of PKD
PKD is a genetic disorder with an incidence rate of about 3.5 / 10,000 people, characterized by the formation of multiple fluid-filled cysts in the kidneys. It is one of the most common inherited kidney diseases and can lead to the progressive loss of kidney function over time. There are two main forms of PKD: autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD), each with its genetic mutations that disrupt kidney cell function.
Pathogenesis of PKD
The pathogenesis of PKD is primarily linked to genetic mutations that disrupt the normal structure and function of kidney cells. In ADPKD, mutations in the PKD1 or PKD2 genes result in abnormal production of proteins known as polycystin-1 and polycystin-2. Dysfunctional polycystin proteins disrupt the signaling pathways within kidney cells, leading to unchecked cell growth, increased fluid secretion, and the formation of cysts. In ARPKD, mutations in the PKHD1 gene impact the production of a protein called fibrocystin. Insufficient fibrocystin leads to the abnormal dilation and proliferation of the renal collecting ducts, initiating the formation of cysts and causing kidney dysfunction.
Fig.2 Schematic representation of nascent polycystin-1 and polycystin-2. (Lanktree, M. B., et al., 2022)Therapeutics Development of PKD
Blood pressure management plays a pivotal role in mitigating the advancement of kidney deterioration in individuals with PKD. Hypertension and protein levels in the urine are typically managed with drugs such as angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs).
An array of pharmaceutical agents, notably tolvaptan, lanreotide, and metformin, have emerged as potential therapies designed to hinder the aberrant signaling in PKD. These drugs hold the promise of revolutionizing the landscape of PKD therapy by offering novel avenues for intervention and enhancing therapy effectiveness.
Our Services
With our deep expertise and dedication, we understand the unique challenges faced by researchers in studying and developing therapies for rare diseases. Relying on our animal models and therapeutic development platform, we provide valuable insights and support to researchers at every stage of their project.
Therapy Development Platforms
Animal Models of Proliferative Lupus Nephritis
Animal models serve as invaluable tools in unraveling the complexities of PKD pathogenesis and assessing the efficacy of potential therapeutic interventions. Our company offers a range of animal models, including chemical-induced and genetic engineering models, to help researchers investigate cyst formation mechanisms, identify therapeutic targets, and assess therapy strategies.
Chemical-induced animal models of PKD involve the administration of specific chemical agents that induce cyst formation in the kidneys, such as diphenylamine and nordihydroguaiaretic acid.
Optional Models: Diphenylamine-induced model; Nordihydroguaiaretic acid-induced model; Aristolochic acid-induced model, etc.
Genetic engineering animal models of PKD involve targeted mutations in the PKD1 or PKD2 genes in animals. These models exhibit cystic kidney phenotypes similar to human PKD.
Optional Models: Pkd1tm2Ggg model; Pkd2tm2Som model; Pkhd1tm1Gwu model; Tg (Pkd1) 248Som model; Cep290rd16 model, etc.
Our commitment to excellence, combined with our one-stop service including pharmacokinetic studies and drug safety evaluation, positions us as a trusted partner for researchers striving to make a difference in the lives of individuals affected by rare diseases. If you are interested in learning more about our services and how we can support your research endeavors, please do not hesitate to reach out to us for further information.
References
- Lanktree, Matthew B et al. "Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies." Clinical journal of the American Society of Nephrology: CJASN 16.5 (2021): 790-799.
- Colbert, Gates B et al. "Update and review of adult polycystic kidney disease." Disease-a-month: DM 66.5 (2020): 100887.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.