Amyloidogenicity and Clinical Phenotype Associated with Five Novel Mutations in Apolipoprotein A-I

摘要: The phenotype of hereditary apolipoprotein A-I amyloidosis is heterogeneous with some patients developing extensive visceral amyloid deposits and end-stage renal failure as young adults others having only laryngeal and/or skin amyloid, which may be little clinical consequence. Clinical management prognosis systemic depend entirely on correct identification the fibril protein, such that light chain (AL, previously referred to "primary"), most frequently diagnosed type, treated chemotherapy, has absolutely no role in amyloidosis. We report five novel variants, four were amyloidogenic one was incidental a patient AL Interestingly, had family history similar disease. Laser microdissection tandem mass spectrometry-based proteomics used confirm protein and, for first time amyloidosis, demonstrated mutated opposed wild-type deposited amyloid. spectrum outcome are reviewed detail support need sequencing gene among apparent localized whom IHC nondiagnostic even absence