title: [Hereditary fibrinogen Aα-chain amyloidosis caused by the E526V mutation: a case report and literature review].
abstract: Mutations in the fibrinogen Aα-chain genes are the most common cause of hereditary renal amyloidosis. The renal histologic appearance in the patient is characteristic and shows striking glomerular enlargement with almost complete obliteration of the normal glomerular architecture by extensive amyloid deposition. In contrast, the vessels and renal tubular interstitium of such patient contains almost no amyloid at all. Here, we described a patient with hereditary fibrinogen amyloidosis, who presented with proteinuria, hypertension and renal failure. He was shown to be heterozygous for the relevant mutation encoding the E526V fibrinogen variant.
authors.affiliation: Renal Division, Department of Medicine, Peking University First Hospital; Institute of Nephrology, Peking University; Key Laboratory of Renal Diseases, Ministry of Health of China; Key Laboratory of Chronic Kidney Disease Prevention and Treatment, Ministry of Education of China; Beijing 100034, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Yao
authors.affiliation: Renal Division, Department of Medicine, Peking University First Hospital; Institute of Nephrology, Peking University; Key Laboratory of Renal Diseases, Ministry of Health of China; Key Laboratory of Chronic Kidney Disease Prevention and Treatment, Ministry of Education of China; Beijing 100034, China.
authors.forename: Su-xia
authors.initials: SX
authors.lastname: Wang
authors.affiliation: Renal Division, Department of Medicine, Peking University First Hospital; Institute of Nephrology, Peking University; Key Laboratory of Renal Diseases, Ministry of Health of China; Key Laboratory of Chronic Kidney Disease Prevention and Treatment, Ministry of Education of China; Beijing 100034, China.
authors.forename: You-kang
authors.initials: YK
authors.lastname: Zhang
mesh_terms: D028226:Amyloidosis, Familial / Q000235:genetics*; D005340:Fibrinogen / Q000235:genetics*; D006801:Humans; D007668:Kidney / Q000473:pathology; D007674:Kidney Diseases / Q000235:genetics*; D008297:Male; D009154:Mutation; D011507:Proteinuria
chemical_list: C464794:fibrinogen Aalpha; D005340:Fibrinogen