Department of Pediatric Nephrology, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany.
Pediatr Nephrol. 2012 May;27(5):865-8. doi: 10.1007/s00467-011-2088-2. Epub 2012 Jan 8.
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.
LAMB2 mutations should be considered in all patients with glomerular proteinuria and abnormal ocular phenotype, irrespective of age and disease severity.
Pierson 综合征是由 LAMB2 基因突变引起的，最初被描述为小瞳孔和先天性肾病综合征的组合，迅速进展为终末期肾衰竭。
病例诊断/治疗：我们报告了一名青少年女孩的 Pierson 综合征轻度变异，该女孩自婴儿早期即有严重近视，6 岁时首次发现蛋白尿。11 岁时，她携带了 LAMB2 基因外显子 2 中独特的纯合非截断突变：c.T240G（p.S80R）。肾脏活检显示轻度弥漫性系膜硬化和层粘连蛋白β2 的残留表达。如今，14 岁的她接受血管紧张素转换酶抑制剂和血管紧张素受体阻滞剂治疗，仍持续出现肾病范围蛋白尿，但肾小球滤过率正常。
无论年龄和疾病严重程度如何，所有有肾小球蛋白尿和异常眼部表型的患者都应考虑 LAMB2 突变。
