Clinical and pathologic characteristics of hereditary apolipoprotein A‐I amyloidosis in Ireland

Abstract

Hereditary apolipoprotein A-I amyloidosis is characterized by slowly progressive renal disease. Amyloid is deposited in the renal medulla highlighting the need to examine the medulla on renal biopsy. Overall, kidney transplantation conferred a survival advantage.

Cellular Interaction and Cytotoxicity of the Iowa Mutation of Apolipoprotein A-I (ApoA-IIowa) Amyloid Mediated by Sulfate Moieties of Heparan Sulfate

“…In one study, a patient with apoA-I Iowa amyloidosis manifested peripheral neuropathy, peptic ulcer disease, and nephropathy and died of renal failure (64). Such renal failures are due to renal amyloidosis (64,65). HSPGs are abundant in the glomerular basement membrane, contribute to glomerular function in multiple ways, and are important for charge-selective permeability of the glomerular filter (66,67).…”

Renal ApoA-1 Amyloidosis with Glu34Lys Mutation and Intra-amyloid Lipid Accumulation

“…3 More than 50 natural variants of ApoA-I have been described, and a little over one third are associated with familial amyloidosis, with 19 known mutations in the APOA1 gene. 2,[4][5][6][7][8][9] Eriksson et al have described different patterns of organ involvement by hereditary ApoA-1 amyloidosis based on specific mutations in hot-spot regions of the APOA1 gene: Mutations in coding regions 50-93 were more likely to cause hepatic and renal involvement, whereas mutations in regions 173-178 were more prone to cardiac, laryngeal, and cutaneous involvement. 10 In addition, the peptide comprising residues 46-59 forms amyloidlike fibrils, and researchers have suggested that this region is responsible for selfrecognition, aggregation, and overall amylogenic propensity of ApoA-1 amyloid.…”

Amiloidosis renal hereditaria por depósito de apolipoproteína AI: un reto diagnóstico

“…Es secretada en el hígado y en el intestino delgado, y se cataboliza fundamentalmente en el hígado y los riñones [13][14][15] . Es un cofactor para la lecitina colesterol acetil-transferasa (LCAT), y su función está vinculada a la eliminación del colesterol 13,15,16 .…”

“…La heterogeneidad fenotípica también se ha observado entre linajes con la misma mutación apo AI. Se han publicado series de pacientes con un elevado número de familiares afectados y alta progresión a enfermedad renal terminal (10 de 16 casos afectados) 15 , lo que sugiere la existencia de un fenotipo más agresivo u otros factores genéticos y ambientales que interactúan o influyen en las manifestaciones clínicas. El posible depósito de amiloide se ha descrito en múltiples órga-nos, entre ellos riñón, tracto gastrointestinal, bazo, hígado; corazón, sistema nervioso periférico, laringe y piel.…”

“…El análisis histológico en la amiloidosis apo AI muestra depósitos de amiloide predominante a nivel medular con un patrón de nefritis tubulointersticial, caracterizada por atrofia tubular y fibrosis intersticial, asociado a glomeruloesclerosis focal secundaria 15,19 . Aunque es predominante la afectación intersticial, también hay casos en los que se ha detectado depósito a nivel glomerular [19][20][21] .…”