Apolipoprotein AII (ApoAII) amyloidosis, first reported in 2001 in a family with renal amyloidosis, is associated with mutations in the stop codon of the apolipoprotein AII gene resulting in a carboxyl terminal peptide extension of 21 amino acid residues in the protein. Since death from this form of amyloidosis is due to renal failure, kidney dialysis and renal transplantation are presently the only two therapeutic options. We report the case of a Caucasian man who developed proteinuria in his late 20's, had renal biopsy at the age of 33 which gave the diagnosis of renal amyloidosis, and required continuous ambulatory peritoneal dialysis by age 45. He received a cadaver renal transplant at age 47 and has maintained stable renal function for nine years without other evidence for organ system dysfunction from amyloidosis. Laboratory studies confirmed persistence of the ApoAII variant in the patient's plasma in addition to the normal ApoAII protein. This is in agreement with the DNA analysis which showed the patient to be heterozygous for the ApoAII stop78Gly mutation These results indicate that renal transplantation is an effective therapy for apolipoprotein AII amyloidosis since recurrence of amyloid in the graft and progression of other organ involvement may be very slow.
ASJC Scopus subject areas
- Pathology and Forensic Medicine