Renal transplantation in familial dysautonomia: Report of two cases and review of the literature

Yelena Rekhtman, Andrew S. Bomback, Martin A. Nash, Scott D. Cohen, Albert Matalon, Dominique M. Jan, Horacio Kaufmann, Felicia B. Axelrod, Jai Radhakrishnan, Gerald B. Appel

Research output: Contribution to journalArticlepeer-review

11 Scopus citations

Abstract

Background and objectives: Chronic kidney disease (CKD) is an increasingly recognized complication of familial dysautonomia (FD), a neurodevelopmental disorder with protean systemic manifestations that are the result of sensory and autonomic dysfunction. Progressive renal dysfunction occurs due to chronic volume depletion and cardiovascular lability with supine hypertension and orthostatic hypotension. By age 25, nearly one-half of all patients with FD will have reached stage 3 CKD. Furthermore, dialysis for ESRD in FD patients is associated with multiple complications and poor outcomes. Design, settings, participants, & measurements: We report two patients with FD who developed ESRD at ages 27 and 16, respectively, and underwent renal transplantation. Transplant was performed after 3 months on intermittent hemodialysis (HD) in the first case and after 1 month on twice-weekly continuous veno-venous hemodialysis (CVVHD) in the second case. Results: Both patients tolerated surgery well and have maintained good graft function at 20 and 24 months posttransplantation, respectively. Symptomatic and functional improvements have included lower supine BP and increased sensitivity to antihypertensive agents. Conclusions: As general supportive care improves the lifespan of FD patients, issues related to the management of ESRD will become more important. Renal transplantation provides a viable alternative to dialysis for FD patients with ESRD.

Original languageEnglish (US)
Pages (from-to)1676-1680
Number of pages5
JournalClinical Journal of the American Society of Nephrology
Volume5
Issue number9
DOIs
StatePublished - Sep 1 2010
Externally publishedYes

ASJC Scopus subject areas

  • Epidemiology
  • Critical Care and Intensive Care Medicine
  • Nephrology
  • Transplantation

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