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Article

Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR.

Pediatric nephrology (Berlin, Germany) - 1 May 2012

Lehnhardt Anja, Lama Albert, Amann Kerstin, Matejas Verena, Zenker Martin, Kemper Markus J

Abstract excerpt

BACKGROUND: Pierson syndrome, caused by mutations in the LAMB2 gene, was originally described as a combination of microcoria and congenital nephrotic syndrome, rapidly progressing to end-stage renal failure. CASE-DIAGNOSIS/TREATMENT: We report a minor variant of Pierson syndrome in a teenage girl with severe myopia since early infancy and proteinuria first detected at age 6. At the age of 11 she was found to...

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Source

Identifiers

PMID: 22228401
DOI: 10.1007/s00467-011-2088-2

Genes

LAMB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR.PMID 22228401Read ↗

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Five-Year Follow-Up and Successful Kidney Transplantation in a Girl with a Severe Phenotype of Pierson Syndrome.Semantic proximity Read ↗

Variable phenotype of Pierson syndrome.Semantic proximity Read ↗

Human laminin β2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalitiesSemantic proximity Read ↗

Pierson Syndrome: A Novel Cause of Congenital Nephrotic SyndromeSemantic proximity Read ↗

First Japanese case of Pierson syndrome with mutations in LAMB2.Semantic proximity Read ↗

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