Loss of podocyte dysferlin expression is associated with minimal change nephropathy.
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.
Izzedine
Hassane
H
Department of Nephrology, Pitie-Salpetriere Hospital, Paris, France. hassan.izzedine@psl.ap-hop-paris.fr
Brocheriou
Isabelle
I
Eymard
Bruno
B
Le Charpentier
Monique
M
Romero
Norma Beatriz
NB
Lenaour
Gilles
G
Bourry
Edward
E
Deray
Gilbert
G
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
C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins