Renal transplantation in familial dysautonomia: report of two cases and review of the literature.
OBJECTIVE
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.


METHODS
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.
Rekhtman
Yelena
Y
Department of Medicine, Division of Nephrology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA. yr2160@columbia.edu
Bomback
Andrew S
AS
Nash
Martin A
MA
Cohen
Scott D
SD
Matalon
Albert
A
Jan
Dominique M
DM
Kaufmann
Horacio
H
Axelrod
Felicia B
FB
Radhakrishnan
Jai
J
Appel
Gerald B
GB
D000293:Adolescent; D000328:Adult; D000959:Antihypertensive Agents / Q000627:therapeutic use; D001794:Blood Pressure / Q000187:drug effects; D018450:Disease Progression; D004402:Dysautonomia, Familial / Q000150:complications* / Q000503:physiopathology / Q000601:surgery; D006085:Graft Survival; D006801:Humans; D006973:Hypertension / Q000188:drug therapy / Q000209:etiology / Q000503:physiopathology; D007676:Kidney Failure, Chronic / Q000209:etiology / Q000503:physiopathology / Q000601:surgery*; D016030:Kidney Transplantation; D008297:Male; D006435:Renal Dialysis; D013997:Time Factors; D016896:Treatment Outcome
D000959:Antihypertensive Agents