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 carry a unique homozygous non-truncating LAMB2 mutation in exon 2: c.T240G (p.S80R). Renal biopsy revealed mild diffuse mesangial sclerosis and residual expression of laminin β2. Today at age 14, on treatment with angiotensin-converting enzyme inhibitors and angiotensin receptor blockers, she continues to have nephrotic range proteinuria, but a normal glomerular filtration rate. CONCLUSIONS: LAMB2 mutations should be considered in all patients with glomerular proteinuria and abnormal ocular phenotype, irrespective of age and disease severity.
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 carry a unique homozygous non-truncating LAMB2 mutation in exon 2: c.T240G (p.S80R). Renal biopsy revealed mild diffuse mesangial sclerosis and residual expression of laminin β2. Today at age 14, on treatment with angiotensin-converting enzyme inhibitors and angiotensin receptor blockers, she continues to have nephrotic range proteinuria, but a normal glomerular filtration rate. CONCLUSIONS:LAMB2 mutations should be considered in all patients with glomerular proteinuria and abnormal ocular phenotype, irrespective of age and disease severity.
Authors: Cecilie Bredrup; Verena Matejas; Margaret Barrow; Kvĕta Bláhová; Detlef Bockenhauer; Darren J Fowler; Richard M Gregson; Iwona Maruniak-Chudek; Ana Medeira; Erica Laima Mendonça; Mikhail Kagan; Jens Koenig; Hermann Krastel; Hester Y Kroes; Anand Saggar; Taylor Sawyer; Michael Schittkowski; Janusz Swietliński; Dorothy Thompson; Rene G VanDeVoorde; Dienke Wittebol-Post; Geoffrey Woodruff; Aleksandra Zurowska; Raoul C Hennekam; Martin Zenker; Isabelle Russell-Eggitt Journal: Am J Ophthalmol Date: 2008-07-31 Impact factor: 5.258
Authors: Hyun Jin Choi; Beom Hee Lee; Ju Hyung Kang; Hyoen Joo Jeong; Kyung Chul Moon; Il Soo Ha; Young Suk Yu; Verena Matejas; Martin Zenker; Yong Choi; Hae Il Cheong Journal: Pediatr Nephrol Date: 2008-06 Impact factor: 3.714
Authors: Mikhail Kagan; Arthur H Cohen; Verena Matejas; Christopher Vlangos; Martin Zenker Journal: Pediatr Nephrol Date: 2007-10-18 Impact factor: 3.714
Authors: Martin Zenker; Thomas Aigner; Olaf Wendler; Tim Tralau; Horst Müntefering; Regina Fenski; Susanne Pitz; Valérie Schumacher; Brigitte Royer-Pokora; Elke Wühl; Pierre Cochat; Raymonde Bouvier; Cornelia Kraus; Karlheinz Mark; Henry Madlon; Jörg Dötsch; Wolfgang Rascher; Iwona Maruniak-Chudek; Thomas Lennert; Luitgard M Neumann; André Reis Journal: Hum Mol Genet Date: 2004-09-14 Impact factor: 6.150
Authors: Steven D Funk; Raymond H Bayer; Andrew F Malone; Karen K McKee; Peter D Yurchenco; Jeffrey H Miner Journal: J Am Soc Nephrol Date: 2017-12-20 Impact factor: 10.121
Authors: Steven D Funk; Raymond H Bayer; Karen K McKee; Kazushi Okada; Hiroshi Nishimune; Peter D Yurchenco; Jeffrey H Miner Journal: Kidney Int Date: 2020-02-20 Impact factor: 10.612
Authors: Katherine R Bull; Thomas Mason; Andrew J Rimmer; Tanya L Crockford; Karlee L Silver; Tiphaine Bouriez-Jones; Tertius A Hough; Shirine Chaudhry; Ian S D Roberts; Christopher C Goodnow; Richard J Cornall Journal: J Pathol Date: 2014-02-06 Impact factor: 7.996