Pediatric nephrology (Berlin, Germany) · 2012
Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR.
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Lehnhardt Anja, Lama Albert, Amann Kerstin, Matejas Verena, Zenker Martin, Kemper Markus J
Аннотация
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.
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.
Предметные рубрики MeSH
Abnormalities, MultipleAdolescentAngiotensin II Type 1 Receptor BlockersAngiotensin-Converting Enzyme InhibitorsBiopsyEye AbnormalitiesFemaleGlomerular Filtration RateHumansKidneyLamininLosartanMutationMutation, MissenseMyasthenic Syndromes, CongenitalMyopiaNephrotic SyndromePhenotypeProteinuriaPupil DisordersRamiprilRetinal DetachmentVision Disorders