title: Pierson syndrome: a novel cause of congenital nephrotic syndrome.
abstract: 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 beta2 laminin in the basement membrane. Our patient demonstrated classic histopathologic findings of Pierson syndrome on renal biopsy, including absence of beta2 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.
authors.affiliation: Pediatric Nephrology and Hypertension, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave, Cincinnati, Ohio 45229, USA. rene.vandevoorde@cchmc.org
authors.forename: Rene'
authors.initials: R
authors.lastname: VanDeVoorde
authors.forename: David
authors.initials: D
authors.lastname: Witte
authors.forename: Jillene
authors.initials: J
authors.lastname: Kogan
authors.forename: Jens
authors.initials: J
authors.lastname: Goebel
mesh_terms: D000328:Adult; D001485:Basement Membrane / Q000737:chemistry; D001706:Biopsy; D003937:Diagnosis, Differential; D004487:Edema / Q000209:etiology; D005260:Female; D006579:Heterozygote; D006801:Humans; D006977:Hypertension, Renal / Q000209:etiology; D007231:Infant, Newborn; D007236:Infant, Small for Gestational Age; D007668:Kidney / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000196:embryology; D007678:Kidney Glomerulus / Q000737:chemistry / Q000648:ultrastructure; D007797:Laminin / Q000172:deficiency* / Q000235:genetics; D008297:Male; D050527:Mesangial Cells / Q000473:pathology; D015877:Miosis / Q000151:congenital*; D009404:Nephrotic Syndrome / Q000151:congenital*; D016104:Oligohydramnios / Q000000981:diagnostic imaging; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal
chemical_list: D007797:Laminin; C058783:laminin beta2