AJKD Atlas of Renal Pathology: Pierson Syndrome

Pierson syndrome is an autosomal recessive disease that accounts for about 2.5% of nephrotic syndrome within the first year of life, usually manifested clinically within the first 3 months. Patients typically present with massive proteinuria and edema. Renal manifestations are accompanied by neurodevelopmental abnormalities, such as hypotonia, muscular weakness/myasthenia, and ophthalmic findings, most often microcoria. Glaucoma, cataracts, and retinal detachment can also occur. Patients with the most severe manifestations die within the first year of life, while those with less severe manifestations progress to chronic kidney failure by 10 years of age and then require transplantation.

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