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


METHODS
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.
Department of Pediatric Nephrology, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany. A.Lehnhardt@uke.de
Anja
A
Lehnhardt
Albert
A
Lama
Kerstin
K
Amann
Verena
V
Matejas
Martin
M
Zenker
Markus J
MJ
Kemper
D000015:Abnormalities, Multiple / Q000378:metabolism* / Q000503:physiopathology*; D000293:Adolescent; D047228:Angiotensin II Type 1 Receptor Blockers / Q000627:therapeutic use; D000806:Angiotensin-Converting Enzyme Inhibitors / Q000627:therapeutic use; D001706:Biopsy; D005124:Eye Abnormalities / Q000378:metabolism* / Q000503:physiopathology*; D005260:Female; D005919:Glomerular Filtration Rate / Q000502:physiology*; D006801:Humans; D007668:Kidney / Q000473:pathology; D007797:Laminin / Q000235:genetics; D019808:Losartan / Q000627:therapeutic use; D009154:Mutation / Q000235:genetics / Q000502:physiology; D020125:Mutation, Missense / Q000235:genetics / Q000502:physiology; D020294:Myasthenic Syndromes, Congenital; D009216:Myopia / Q000209:etiology; D009404:Nephrotic Syndrome / Q000473:pathology; D010641:Phenotype; D011507:Proteinuria / Q000209:etiology* / Q000503:physiopathology*; D011681:Pupil Disorders / Q000378:metabolism* / Q000503:physiopathology*; D017257:Ramipril / Q000627:therapeutic use; D012163:Retinal Detachment / Q000209:etiology; D014786:Vision Disorders / Q000209:etiology
D047228:Angiotensin II Type 1 Receptor Blockers; D000806:Angiotensin-Converting Enzyme Inhibitors; D007797:Laminin; C058783:laminin beta2; D019808:Losartan; D017257:Ramipril