Abstract:

A 40yearsold male patients who had a family history of kidney disease was admitted for hypertension, proteinuria and recurrent edema with normal renal function. Congo red staining was positive in his renal tissue but negative in skin, subcutaneous fat tissue and rectal mucosa. Those amyloid substances were deposited in mesangium and subendothelial area but absent in tubulointerstitial area and vessels. Further exploration for the precursor protein showed positive staining of ApoAⅠ and negative results for light chains, ApoB, ApoE, Lysozyme, transthyretin, and β2microglobulin. Sequencing of the apolipoprotein AⅠ gene revealed a mutation of c.220A＞G. Finally he was diagnosed hereditary apolipoprotein A1 amyloidosis.