Inherited kidney diseases are associated with an increased risk of mortality, cardiovascular morbidity and growth impairment. Genetic testing facilitates the rapid and thorough diagnosis of any inherited kidney disease that is present, allowing you to provide pro-active support and selection of the best treatment and individual care.
Articles on Nephrology
Alport Syndrome is an inherited disease that primarily affects the glomeruli, the tiny tufts of capillaries in the kidneys that filter wastes from the blood. The disease was first described by an English doctor named A. Cecil Alport.
Pierson Syndrome: A Case Report with a Neonatal Cardiac Association Based on a Novel Mutation in the LAMB2 Gene
Congenital nephrotic syndrome (CNS) combined with eye abnormalities including microcoria (small pupils that don’t respond to light) and abnormal lens shape can suggest a clinical diagnosis of Pierson syndrome (which mainly affects the kidneys and eyes). The clinical association of Pierson syndrome…