Hereditary renal amyloidosis with a variant lysozyme p.Trp82Arg in a Chinese family: case report and literature review

BMC Nephrology
Zhenyu LiSu-Xia Wang

Abstract

Lysozyme amyloidosis is a rare hereditary systemic amyloidosis with amyloid deposits in various tissues leading to progressive organ failure. It has been mainly reported in developed countries since 1993. Here we report a lysozyme amyloidosis family with variant lysozyme p.Trp82Arg in a Chinese family. The main clinical manifestation of this case was dominant kidney involvement presenting with proteinuria and decreased renal function. Biopsy of the kidney showed massive amyloid deposits in the glomerular mesangium and subendothelium. Immunohistochemistry and mass spectrometry of renal tissue confirmed the lysozyme nature of the amyloid. DNA sequencing of the peripheral blood leukocytes revealed a single base-pair transition from T to C (TGG/ CGG) of codon 82, leading to the replacement of tryptophan by arginine in the mature protein (p.Trp82Arg). The affected patients in this family also presented with dominant kidney involvement, one of them has been confirmed by IHC and mass spectrometry on his renal biopsy and gene testing as well. As there is no radical therapy for lysozyme amyloidosis, patients were given symptomatic treatment such as antihypertensive drugs and antibiotics. To our knowledge, this is the first report of lys...Continue Reading

References

Feb 19, 2002·Kidney International·Sophie ValleixGilles Grateau
Oct 3, 2002·Gastroenterology·Brigitte GranelPierre-Jean Weiller
Apr 5, 2003·Kidney International·Masahide YazakiMerrill D Benson
Mar 5, 2005·The American Journal of Medicine·Brigitte GranelDominique Droz
Mar 9, 2006·Medicine·Brigitte GranelGilles Grateau
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Mar 19, 2019·Case Reports in Hematology·Madiha IqbalTaimur Sher

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Citations

Feb 19, 2020·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Alexandra MouraDiana Canetti
May 25, 2020·Protoplasma·Nimisha GuptaSaima Wajid

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Methods Mentioned

BETA
electrophoresis
biopsy

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