title: Loss of podocyte dysferlin expression is associated with minimal change nephropathy.
abstract: 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.
authors.affiliation: Department of Nephrology, Pitie-Salpetriere Hospital, Paris, France. hassan.izzedine@psl.ap-hop-paris.fr
authors.forename: Hassane
authors.initials: H
authors.lastname: Izzedine
authors.forename: Isabelle
authors.initials: I
authors.lastname: Brocheriou
authors.forename: Bruno
authors.initials: B
authors.lastname: Eymard
authors.forename: Monique
authors.initials: M
authors.lastname: Le Charpentier
authors.forename: Norma Beatriz
authors.initials: NB
authors.lastname: Romero
authors.forename: Gilles
authors.initials: G
authors.lastname: Lenaour
authors.forename: Edward
authors.initials: E
authors.lastname: Bourry
authors.forename: Gilbert
authors.initials: G
authors.lastname: Deray
mesh_terms: D000328:Adult; D000073939:Dysferlin; D020869:Gene Expression Profiling; D006801:Humans; D007150:Immunohistochemistry; D007678:Kidney Glomerulus / Q000502:physiology; D008297:Male; D008565:Membrane Proteins / Q000096:biosynthesis / Q000235:genetics*; D009124:Muscle Proteins / Q000096:biosynthesis / Q000235:genetics*; D049288:Muscular Dystrophies, Limb-Girdle; D020125:Mutation, Missense; D009402:Nephrosis, Lipoid; D010539:Permeability; D050199:Podocytes
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins