Polycystic kidney disease (PKD) is a rare genetic disease. Our company is dedicated to advancing the field of PKD diagnosis through cutting-edge technologies and tailored solutions. By developing innovative IVD reagents/kits and compact diagnostic devices, our aim is to address the complexity of PKD pathogenesis and diagnostic challenges, fundamentally transforming the detection and management of this genetic disorder.
Introduction to PKD
Polycystic kidney disease (PKD) is a genetic condition that impacts the kidneys and other organs. It is distinguished by the formation of fluid-filled sacs, known as cysts, within the kidneys, which can disrupt their regular functionality. PKD can lead to various complications such as high blood pressure, kidney failure, and the formation of cysts in other organs like the liver. There are two primary types of PKD: autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD).
| Disease Types |
Mutant Gene |
Onset |
Severity |
Prevalence |
| ADPKD |
PKD1 or PKD2 |
Adulthood |
Relatively severe |
1/400 to 1/1,000 |
| ARPKD |
PKHD1 |
Infancy |
More severe and often lethal |
1/20,000 |
Fig. 1 The pathophysiology of polycystic kidney disease (PKD). (Afsar B, et al., 2022)
Pathogenesis of PKD
The pathogenesis of polycystic kidney disease (PKD) is primarily driven by mutations in specific genes. Comprehending the genetic foundation of PKD is vital for the creation of efficient diagnostic methods and therapeutic approaches.
Pathogenesis of ADPKD
ADPKD is predominantly induced by mutations in the PKD1 or PKD2 genes, responsible for encoding polycystin, a crucial protein for upholding the structural stability of kidney tubules and overseeing cell growth and specialization. These gene mutations lead to abnormal kidney cell growth, fluid secretion, and cyst formation.
Pathogenesis of ARPKD
ARPKD is caused by mutations in the PKHD1 gene, which encodes for fibrocystin, a protein involved in cell-cell and cell-matrix interactions during kidney development. Loss of fibrocystin function disrupts normal renal tubule development, leading to cystic dilation and fibrosis in the kidneys.
Diagnostic Development for PKD
In vitro diagnostics (IVD) play a key role in the diagnosis and management of polycystic kidney disease (PKD), which will help healthcare professionals identify the presence of PKD, assess disease progression, and guide therapeutic decisions. However, there are still no commercial IVD products on the market, so there will be market prospects for focusing on this area. The development of in vitro diagnostics for PKD is mainly based on the following strategies.
PCR is commonly used in genetic testing for PKD to amplify specific regions of the PKD1 and PKD2 genes associated with autosomal dominant PKD. This technique enables the detection of pathogenic mutations in these genes.
In vitro diagnostic tests such as serum creatinine and blood urea nitrogen (BUN) measurements are used to assess kidney function in individuals with PKD. Abnormal levels of these markers can indicate impaired kidney function.
Our Services
Recognizing the potential market value of polycystic kidney disease (PKD) diagnostics, our company is dedicated to the development of IVD solutions for PKD to meet the unmet needs in this field. Our expertise lies in designing gene detection kits and related metabolic biomarker detection kits specifically for PKD. Supported by diagnostic equipment, these kits can enable accurate and reliable testing, aiding in the timely diagnosis and intervention of PKD.
IVD Product Development Services
Optional IVD Products
- Gene Testing Kits (PKD1, PKD2, and PKHD1)
- Serum Creatinine Detection Kits
- Urea Nitrogen Detection Kits
- Primers and Probes
- DNA Extraction Reagents
- PCR Reagents
- Nucleic Acid Extractor
- PCR Instrument
- DNA Sequencer
- And More
Our services are not limited to this. To expedite prompt diagnosis and personalized therapeutics for polycystic kidney disease (PKD), we provide point-of-care testing and companion diagnostic development services. These services play a crucial role in enhancing the efficiency and accuracy of PKD diagnostics, enabling personalized care strategies for affected individuals.
If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Afsar B, Afsar R E, Demiray A, et al. Sodium–glucose cotransporter inhibition in polycystic kidney disease: fact or fiction[J]. Clinical kidney journal, 2022, 15(7): 1275-1283.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
