Fibrinogen A Alpha-Chain Amyloidosis in Two Chinese Patients

Abstract

ObjectivesFibrinogen A alpha-chain amyloidosis (AFib amyloidosis) is the most common form of hereditary renal amyloidosis in the United Kingdom and Europe, but has rarely been reported in Asia. In this study, we reported two AFib amyloidosis patients in China, reviewing the literature and summarizing main characteristics of AFib amyloidosis in Asia.MethodsTwo unrelated Chinese patients were diagnosed with AFib amyloidosis by clinical presentation, renal biopsy, mass spectrometry and DNA sequencing in Peking University First Hospital of China from 2014 to 2016.ResultsBoth of the patients presented with proteinuria, edema and hypertension. Renal biopsies of two patients showed extensive amyloid deposits (Congo red positive) in glomeruli, and focal tubulointerstitial amyloid deposits was also found in patient 1. Besides, hepatic involvement of amyloidosis has been detected by liver biopsy in patient 1. By electron microscopy, randomly arranged fibrils in a diameter of 8–12 nm was identified in mesangial matrix and subendothelial area of glomeruli. Immunohistochemistry demonstrated amyloid deposits were strongly positive for fibrinogen Aα in glomeruli and positive for LECT2 in the interstitium of renal medulla and the liver in Patient 1. Unevenly positive staining for both fibrinogen Aα and ApoA-I were found in Patient 2. Fibrinogen Aα was the most abundant amyloidogenic protein in both patients identified by laser microdissection and mass spectrometry-based proteomic analysis. Genetic analysis revealed the fibrinogen A a-chain gene (FGA) mutation in both patients, including a new deletion mutation [c.1639delA (p.Arg547Glyfs*21; NM_000508)] in Patient 2. Genetic analysis of the LECT2 gene in patient 1 revealed a codon change from ATC to GTC at position 172 [c.172A>G (p.Ile58Val; NM_002302)], which is a common polymorphism (SNP rs31517) in all ALECT2 amyloidosis patients.ConclusionsWe reported two AFib amyloidosis patients in China, one of them coexisted with ALECT2 amyloidosis simultaneously.

Impact of adolescent idiopathic scoliosis on in-school adolescents and intervention

“…In addition to modern medical technology tools, traditional Chinese medicine (TCM) rehabilitation therapy has also been shown to have good efficacy in AIS. Common types of AIS in Chinese medicine include Yin deficiency of the liver and kidney, Yang deficiency of the spleen and kidney, Qi and blood insufficiency, wind in the spine, kidney deficiency and blood stasis [1]. Patients should choose to take different Chinese medicines according to the different types of AIS.…”

“…Idiopathic scoliosis is a three-dimensional structural deformity of the spine accompanied by vertebral rotation of unknown cause and is diagnosed by a Cobb angle greater than or equal to 10° with axial rotation of the vertebrae [1]. AIS is one of the most common types of scoliosis and is prevalent in adolescents who are in a rapid growth spurt [2].…”