Genetic testing in @entity479 -resistant XXXX : when and how?

@entity1 @entity628 @entity740 @entity1985 @entity7447 @entity479
UNASSIGNED: @entity479 -resistant @entity1985 (SRNS) represents the second most frequent cause of @entity740 in the first three decades of life. It manifests histologically as @entity628 ( @entity628 ) and carries a 33% risk of relapse in a renal transplant. No efficient treatment exists. Identification of single-gene (monogenic) causes of SRNS has moved the glomerular epithelial cell (podocyte) to the center of its pathogenesis. Recently, mutations in >30 recessive or dominant genes were identified as causing monogenic forms of SRNS, thereby revealing the encoded proteins as essential for glomerular function. These findings helped define protein interaction complexes and functional pathways that could be targeted for treatment of SRNS. Very recently, it was discovered that in the surprisingly high fraction of    30% of all individuals who manifest with SRNS before 25 years of age, a causative mutation can be detected in one of the    30 different SRNS-causing genes. These findings revealed that SRNS and @entity628 are not single disease entities but rather are part of a spectrum of distinct diseases with an identifiable genetic etiology. Mutation analysis should be offered to all individuals who manifest with SRNS before the age of 25 years, because (i) it will provide the @entity1 and families with an unequivocal cause-based diagnosis, (ii) it may uncover a form of SRNS that is amenable to treatment (e.g. @entity7447 ), (iii) it may allow avoidance of a renal biopsy procedure, (iv) it will further unravel the puzzle of pathogenic pathways of SRNS and (v) it will permit personalized treatment options for SRNS, based on genetic causation in way of 'precision medicine'.
