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.
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 FDpatients 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 FDpatients, issues related to the management of ESRD will become more important. Renal transplantation provides a viable alternative to dialysis for FDpatients with ESRD.
Authors: S A Slaugenhaupt; A Blumenfeld; S P Gill; M Leyne; J Mull; M P Cuajungco; C B Liebert; B Chadwick; M Idelson; L Reznik; C Robbins; I Makalowska; M Brownstein; D Krappmann; C Scheidereit; C Maayan; F B Axelrod; J F Gusella Journal: Am J Hum Genet Date: 2001-01-22 Impact factor: 11.025
Authors: Elifcan Taşdelen; Daniel G Calame; Gulsen Akay; Tadahiro Mitani; Jawid M Fatih; Isabella Herman; Haowei Du; Zeynep Coban-Akdemir; Dana Marafi; Shalini N Jhangiani; Jennifer E Posey; Richard A Gibbs; Taylan Altıparmak; Nüket Yürür Kutlay; James R Lupski; Davut Pehlivan Journal: Am J Med Genet A Date: 2022-03-24 Impact factor: 2.578
Authors: Zain Ul Abideen; Anna Rixon; Nirosha D Gunatillake; Elizabeth Househam; Christopher J Mathias; Andrew Connor Journal: Transplant Direct Date: 2022-08-04