Polycystic Kidney Disease (PKD) is an inherited multisystemic and progressive disorder characterized by cyst formation and enlargement of the kidneys and other organs. Cysts are noncancerous round sacs containing fluid. These cysts eventually deteriorate renal anatomy and physiology causing them to lose function over time. Polycystic kidney disease is classified into two distinct disorders based on the inheritance pattern: autosomal dominant PKD (ADPKD) and autosomal recessive PKF (ARPKD). ARPKD is the most aggressive form and presents with severe pulmonary insufficiency and progressive renal failure with early onset during infancy. If left untreated, ARPKD is lethal before adolescence. ADPKD usually manifests during adulthood and is the most common inherited cause of chronic kidney disease. Cystic kidneys are common causes of end-stage renal disease, both in children and adults.
The Igenomix Polycystic Kidney Disease Precision Panel can be used to make a directed and accurate differential diagnosis of renal cysts ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
- The Igenomix Polycystic Kidney Disease Precision Panel is indicated for those patients with a clinical suspicion or diagnosis of polycystic kidneys presenting with:
- Gross hematuria
- Flank or abdominal pain
- Recurrent urinary tract infections
- Palpable kidneys on abdominal exam
- Signs of chronic kidney disease (hypertension, fluid overload, uremia)
- Extrarenal cysts: hepatic, pancreatic, cerebral berry aneurysm
- Maternal oligohydramnios and Potter sequence
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment with a multidisciplinary team in the form of medical care with blood pressure control to prevent and delay end-stage renal disease, related complications and/or renal transplantation.
- Provide regular ultrasound and laboratory monitoring improving clinical management of patients, enhancing further with emerging therapeutic options.
- Genetic counselling session for risk assessment of asymptomatic family members according to the mode of inheritance.
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Bergmann, C., Guay-Woodford, L., Harris, P., Horie, S., Peters, D., & Torres, V. (2018). Polycystic kidney disease. Nature Reviews Disease Primers, 4(1). doi: 10.1038/s41572-018-0047-y