Published online July 24, 2006
PEDIATRICS Vol. 118 No. 2 August 2006, pp. e501-e505 (doi:10.1542/peds.2005-3154)
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EXPERIENCE AND REASON

Pierson Syndrome: A Novel Cause of Congenital Nephrotic Syndrome

Rene' VanDeVoorde, MDa, David Witte, MDb, Jillene Kogan, MD, PhDc and Jens Goebel, MDa

a Pediatric Nephrology and Hypertension
b Divisions of Pathology
c Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio

In this report, we describe a newborn infant who presented with congenital nephrotic syndrome and renal insufficiency, as well as bilateral microcoria. This constellation of findings is a hallmark of Pierson syndrome, a newly recognized genetic disorder that is caused by a deficiency of ß2 laminin in the basement membrane. Our patient demonstrated classic histopathologic findings of Pierson syndrome on renal biopsy, including absence of ß2 laminin on immunofluorescent staining, and genetic testing confirmed the diagnosis. We conclude that Pierson syndrome should be included in the differential diagnosis for congenital nephrotic syndrome, especially in patients with ocular abnormalities.

Key Words: congenital nephrotic syndrome • glomerular basement membrane • Pierson syndrome • laminin • microcoria

Abbreviations: CNS, congenital nephrotic syndrome • GBM, glomerular basement membrane • CNF, congenital nephrotic syndrome of the Finnish type • CD2AP, CD2-associated protein

Accepted Feb 21, 2006.


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