关键词: 凝溶胶蛋白型淀粉样变性, 蛋白尿, 凝溶胶蛋白, 杂合突变

Abstract: A 48yearold woman presented with moderate proteinuria and hypertension.A renal biopsy at local hospital indicated amyloidosis.The subcutaneous fat aspirate and rectum mucosa biopsy in our hospital also showed amyloid deposits.However,the immunoglobulin light chains,amyloid A,leukocyte cellderived chemotaxin 2、lysozyme、amyloid precursor protein、transthyretin and β2microglobulin staining were all negative in the rectum mucosa.Furthermore,genetic sequencing reveled the gelsolin mutation (c640G>A) in the patient and her father,and futher sequencing of other family members showed autosomal dominant inheritance.Antigelsolin staining was positive in rectum mucosa,and the final diagnosed was gelsolin amyloidosis (AGel amyloidosis).