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MYH9 mutation and lupus erythematosus

Item Type:Article
Title:MYH9 mutation and lupus erythematosus
Creators Name:Elitok, S., Goebel, U., Bieringer, M., Nagel, M., Schneider, W., Kettritz, R. and Luft, F.C.
Abstract:MYH9 is the gene encoding nonmuscle myosin heavy chain IIA. Mutations result in a variety of diverse syndromes that share the association of macrothrombocytopaenia and leukocyte inclusions. Kidney disease may occur. Our patient underwent kidney biopsy in 1970, 1998 and 2008. The biopsies were interpreted as interstitial nephritis, focal sclerosing glomerulonephritis and membranous lupus erythematosis (WHO Stage V), respectively. At the latter presentation, antinuclear antibodies, lupus anticoagulant and a fitting clinical picture were all present. Immunosuppression markedly improved the patient’s symptoms and her state of well-being, although she remained dialysis dependent. Sequencing identified the 5521G>A mutation in exon 38. We draw attention to MYH9-related kidney disease. Whether or not the appearance of a lupus-like syndrome in our patient is solely coincidental cannot be determined. What should be done when a patient comes with an (more-or-less) established genetic disease but shows characteristics of another entity? Sensible judgment dictates finding a common denominator (Occam’s razor). However, this strategy is not always possible. We were faced with a glomerulonephritis patient who appeared not to have what she should have had. However, one renal disease does not protect from another. Sometimes serious therapeutic decisions are in the balance.
Keywords:Focal Segmental Glomerulosclerosis, Lupus Erythematosus, Lupus Nephritis, May-Hegglin, MYH9
Source:NDT Plus
Publisher:Oxford University Press
Page Range:128-131
Date:April 2010
Official Publication:https://doi.org/10.1093/ndtplus/sfp181

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