End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: presentation, survival and prognostic factors

Amyloid. 2004 Mar;11(1):27-37. doi: 10.1080/13506120410001673884.

Abstract

Classical familial amyloid polyneuropathy may have a course with progressive renal impairment. We studied 62 patients (24 males, 38 females) with FAP, transthyretin variant V30M, and end-stage renal disease (ESRD) treated with hemodialysis, all referred to a single center over a period of 11 years. Clinical course, morbidity and survival after dialysis were analyzed. Patient's mean age at first dialysis was 51.5 +/- 10.7 years, and mean duration of neuropathy was 10.2 +/- 3.8 years. The most frequent form of presentation of FAP nephropathy was nephrotic proteinuria with renal dysfunction. In the year prior to dialysis, renal function declined rapidly, and fluid overload was the main indication to initiate treatment. The presence of decubitus ulcers, significant disability, venous catheter for definitive vascular access for long-term treatment, and permanent bladder catheter, were related to death during the first year of dialysis. The mean duration of renal replacement therapy was 21 months, with a 54.5% one year, and 38.4% two year treatment survival. However, when the duration of neurological symptoms at first dialysis exceeded 10 years, survival was significantly lower. Infections, (41% were decubitus ulcers with sepsis) were the cause of early, as well as late mortality. Early creation of vascular access for hemodialysis, surveillance of skin wounds, and intervention on neurogenic bladder are essential to improve the prognosis of ESRD in FAP.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amyloid Neuropathies, Familial / complications
  • Amyloid Neuropathies, Familial / mortality*
  • Amyloid Neuropathies, Familial / therapy*
  • Case-Control Studies
  • Female
  • Humans
  • Kidney Failure, Chronic / etiology
  • Kidney Failure, Chronic / mortality*
  • Kidney Failure, Chronic / therapy*
  • Male
  • Middle Aged
  • Predictive Value of Tests
  • Prognosis
  • Proteinuria / etiology
  • Proteinuria / therapy*
  • Renal Dialysis*
  • Survival Rate
  • Time Factors