| Pierson syndrome: a novel cause of congenital nephrotic syndrome. | |
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MedLine Citation:
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PMID: 16864643 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Rene' VanDeVoorde; David Witte; Jillene Kogan; Jens Goebel |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2006-07-24 |
Journal Detail:
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Title: Pediatrics Volume: 118 ISSN: 1098-4275 ISO Abbreviation: Pediatrics Publication Date: 2006 Aug |
Date Detail:
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Created Date: 2006-08-02 Completed Date: 2006-09-11 Revised Date: 2009-05-12 |
Medline Journal Info:
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Nlm Unique ID: 0376422 Medline TA: Pediatrics Country: United States |
Other Details:
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Languages: eng Pagination: e501-5 Citation Subset: AIM; IM |
Affiliation:
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Pediatric Nephrology and Hypertension, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave, Cincinnati, Ohio 45229, USA. rene.vandevoorde@cchmc.org |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Basement Membrane / chemistry Biopsy Diagnosis, Differential Edema / etiology Female Heterozygote Humans Hypertension, Renal / etiology Infant, Newborn Infant, Small for Gestational Age Kidney / abnormalities, embryology, ultrasonography Kidney Glomerulus / chemistry, ultrastructure Laminin / deficiency*, genetics Male Mesangial Cells / pathology Miosis / congenital* Nephrotic Syndrome / congenital* Oligohydramnios / ultrasonography Pregnancy Syndrome Ultrasonography, Prenatal |
| Chemical | |
Reg. No./Substance:
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0/Laminin; 124148-86-3/laminin beta2 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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