Article
Hereditary nephropathic systemic amyloidosis caused by a novel variant apolipoprotein A-I.
Kidney international - 1 Feb 1998
Persey M R, Booth D R, Booth S E, van Zyl-Smit R, Adams B K, Fattaar A B, Tennent G A, Hawkins P N, Pepys M B
Abstract excerpt
We report a family with autosomal-dominant hereditary systemic amyloidosis in three generations, presenting with renal involvement. Two members of the current generation received renal transplants for end-stage renal failure 16 and 18 years ago, and remain very well clinically despite massive vis...
Topics
- Amyloid
- Amyloidosis
- Apolipoprotein A-I
- Biopsy
- Blotting, Western
- Exons
- Family Health
- Female
- Gene Deletion
- Genotype
- Humans
- Immunohistochemistry
- Kidney Failure, Chronic
- Kidney Transplantation
- Liver
- Male
- Middle Aged
- Mutation