Loss of Poyte Dysferlin Expression IsAssociated With…表达的丢失与相关.pdfVIP

CASE REPORTS Loss of Podocyte Dysferlin Expression Is Associated With Minimal Change Nephropathy Hassane Izzedine, MD, PhD, Isabelle Brocheriou, MD, PhD, Bruno Eymard, MD, PhD, Monique Le Charpentier, MD, Norma Beatriz Romero, MD, Gilles LeNaour, MD, Edward Bourry, MD, and Gilbert Deray, MD ● We report a case of limb-girdle muscular dystrophy type 2B (LGMD2B) associated with minimal change disease. Immunohistochemical examination of quadriceps muscle showed a deficiency in dysferlin in sarcolemma, and dysferlin gene analysis showed 3370 G missense mutation, leading us to the diagnosis of LGMD2B. The patient also developed glomerular proteinuria. We also explored urinary protein levels in 3 other patients with dysferlinopathy and found microalbuminuria with albumin excretion of 0.14 to 0.18 g/d in 2 patients. Renal abnormalities during LGMD2B and kidney dysferlin expression have never been reported. Renal biopsy showed a lack of glomerular dysferlin expression compared with a positive immunohistochemical marking in patients with idiopathic minimal change nephropathy and healthy controls. We therefore suggest that dysferlin is present in glomeruli and may be associated with glomerular permeability. Am J Kidney Dis 48:143-150. © 2006 by the National Kidney Foundation, Inc. INDEX WORDS: Dysferlin; podocyte; minimal change nephropathy. MUSCULAR DYSTROPHY encompasses also explored urinary protein levels in 3 other a diverse group of inherited muscle dis- patients with dysferlinopathy and compared re- eases characterized by wasting and weakness of nal dysferlin expression in this patient versus skeletal muscle.1 During the last 15 years, an normal kidney tissue and an idiopathic MCN increasing number of genes have been