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AApoAII amyloidosis

Disease definition

A rare hereditary amyloidosis with primary renal involvement characterized by variable onset of renal insufficiency with edema, hypertension, proteinuria, and azotemia, eventually leading to end-stage renal disease. Amyloid cardiomyopathy and histopathological evidence of amyloid deposition in other organs, such as the spleen, liver, adrenal glands, and pancreas, among others, have also been described.

ORPHA:238269

Classification level: Subtype of disorder
  • Synonym(s):
    • Apolipoprotein A-II amyloidosis
    • Familial amyloid nephropathy due to apolipoprotein A-II variant
    • Familial renal amyloidosis due to apolipoprotein A-II variant
    • Hereditary amyloid nephropathy due to apolipoprotein A-II variant
    • Hereditary renal amyloidosis due to apolipoprotein A-II variant
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: E85.0
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Article for general public

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