Pierson syndrome

Definition:

Pierson syndrome is an autosomal recessive disease characterized by congenital nephrotic syndrome, bilateral microcoria, and neurological abnormalities. The nephrotic syndrome progresses to end-stage renal disease during the first year of life. Pierson syndrome is caused by a deficiency of 2-laminin in the basement membrane.

References:

[1]. Clifford E Kashtan, et al. Genetic disorders of glomerular basement membranes. Nephron Clin Pract. 2011;118(1):c9-c18. [Content Brief]

[2]. Geneviève Benoit, et al. Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes. Ann N Y Acad Sci. 2010 Dec;1214:83-98. [Content Brief]

[3]. Marie Claire Gubler, et al. Inherited diseases of the glomerular basement membrane. Nat Clin Pract Nephrol. 2008 Jan;4(1):24-37. [Content Brief]

[4]. Rene' VanDeVoorde, et al. Pierson syndrome: a novel cause of congenital nephrotic syndrome. Pediatrics. 2006 Aug;118(2):e501-5. [Content Brief]

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