Definition
Hereditary cystic kidney diseases are considered as “ciliopathies” caused by abnormalities of the “primary cilia” situated on the tubules. As a result of dysplasia and dysfunction of cilia, formation of cysts occurs at various stages of life. Although occurring at a low incidence, hereditary cystic kidney diseases that develop from the fetal stage to childhood are diverse and are often associated with systemic disorders. Autosomal dominant polycystic kidney disease is the most common hereditary kidney disease and one of the most common causes of end-stage kidney disease. Multiple clinical manifestations, such as enlarged kidneys filled with growing cysts, hypertension, and multiple extrarenal complications, including liver cysts, intracranial aneurysms, and cardiac valvular disease, show that it is a systemic disorder. Autosomal recessive polycystic kidney disease is a rare but severe early-onset ciliopathy mainly caused by mutations mainly in the PKHD1 gene. Genetic diagnosis might benefit families and improve the clinical management of patients, which might be enhanced even further with emerging therapeutic options.
Why to perform genetic testing in cases with suspected PKD?
- To better perform risk stratification and prognosis
- To select the best therapeutic option for that spcific patient based on the genotype
- To identify other relatives at risk to develop the disease
Our PKD panel
LRP5, OFD1, PKD1, PKD2, PKHD1, PMM2, PRKCSH, REN, SEC63, UMOD, VHL,
Important: All our panels can be modified based on the phenotype. Please contact us if you have questions
What to expect from this test: The yield of the genetic test can reach 80-95%
Recommended Literature
- Recent Advances in the Pathogenesis and Treatment of Kidney Diseases. Mochizuki T., et al., Contrib Nephrol. Basel, Karger, 2018, vol 195, pp 31-41
- Autosomal dominant polycystic kidney disease. Cornec-Le Gall E, Alam A, Perrone RD. Lancet. 2019 Mar 2;393(10174):919-935.
- Polycystic kidney disease. Bergmann C., et al., Dec 2018; Nature Reviews.
- Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease. Burgmaier K., et al., 2018; J Pediatr. (199)22-8.
Download here interesting open access manuscripts on PKD