Prevalence and Severity of Renal Disease in Familial Dysautonomia

Elkayam, Lior U.; Matalon, Albert; Tseng, Chi‐Hong; Axelrod, Felicia B.

doi:10.1053/j.ajkd.2006.07.024

Cited by 20 publications

(27 citation statements)

References 15 publications

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“…Consistent with this, Doppler flow studies of the renal vasculature have shown that while vascular resistance is normal at baseline, there is reduced overall flow with markedly decreased end-diastolic flow upon standing and with exercise (8). The observation that proteinuria is initially absent but worsens as renal function declines is also consistent with global, ischemic-type secondary GS (6).…”

Section: Discussionsupporting

confidence: 65%

“…The same series demonstrated an absence of sympathetic innervation of the renal vasculature (7). It was postulated that deficiency of sympathetic vasomotor tone might impair the ability to regulate intraglomerular pressure, resulting in ischemic damage to glomeruli during periods of orthostatic hypotension with further damage during periods of hypertension (6). Consistent with this, Doppler flow studies of the renal vasculature have shown that while vascular resistance is normal at baseline, there is reduced overall flow with markedly decreased end-diastolic flow upon standing and with exercise (8).…”

Section: Discussionsupporting

confidence: 54%

“…One factor is compromised intravascular volume due to both dysphagia impeding optimal fluid intake and acute episodes of dehydration during dysautonomic vomiting crises, which are often accompanied by increased insensible losses from excessive diaphoresis and hypersalivation (6). A second factor is BP lability.…”

Section: Discussionmentioning

confidence: 99%

“…A recent study of chronic kidney disease (CKD) in the FD population found that nearly 40% of those studied reached at least stage 3 CKD by age 20, and greater than 75% progressed to stage 3 CKD or beyond by age 35 (6). Moreover, 3.5% of patients in the database of 596 patients had reached end-stage renal disease (ESRD) requiring dialysis.…”

mentioning

confidence: 99%

“…An interplay between chronic volume depletion, BP lability, and the inability to regulate renal hemodynamics due to sympathethic dysfunction likely underlies the development and progression of kidney disease in these patients. These factors also greatly increase the risk of complications with dialysis, which is associated with increased mortality in the FD population (6).…”

mentioning

confidence: 99%

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Renal Transplantation in Familial Dysautonomia

Rekhtman¹,

Bomback²,

Nash³

et al. 2010

Clinical Journal of the American Society of Nephrology

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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.

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Section: Discussionsupporting

confidence: 65%

Section: Discussionsupporting

confidence: 54%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

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Renal Transplantation in Familial Dysautonomia

Rekhtman¹,

Bomback²,

Nash³

et al. 2010

Clinical Journal of the American Society of Nephrology

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Uncommon side effects of common drugs in patients with familial dysautonomia

Perl

Hakimian

Maayan

et al. 2021

Pharmacoepidemiology and Drug

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Purpose: Patients with the autosomal recessive disorder of familial dysautonomia typically exhibit exacerbated adverse side effects to many common drugs. We aimed to catalog these adverse effectswith a focus on common drugs that are frequently administered to FD patients and compare their incidences to those within the general population.Methods: We used data of 595 FD patients from an international database with information on drugs received and adverse effects. To investigate the molecular causes of reported differences in drug responses in FD patients, we used expression microarrays to compare the mRNA expression profiles in peripheral blood leukocytes of FD patients (n = 12) and healthy individuals (n = 10).Results: Several drug classes, including cholinergics, anti-cholinergics, anti-convulsants, methylxanthines, SSRIs, and antibiotics caused either unreported symptoms or elevated rates of adverse events in FD patients. FD patients experienced different or more frequent adverse side effects than the general population in 31/123 drugs.These side effects included blood cell dyscrasias, amenorrhea, gastrointestinal bleeding, and bronchospasm. New findings include enhanced reaction of FD patients to H2 antagonist agents and to serotonin receptor agonists. We also detected eight genes differentially expressed between FD patients and healthy individuals that may underlie the differential drug responses of FD patients. Conclusion:We provide evidence that suggests the use of several common drugs should be discontinued or reduced in FD patients.There were no prior presentations, sponsors or grants for this research.

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Inherited Glomerular Diseases

Rheault¹,

Kashtan²

2014

Pediatric Nephrology

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Prevalence and Severity of Renal Disease in Familial Dysautonomia

Cited by 20 publications

References 15 publications

Renal Transplantation in Familial Dysautonomia

Renal Transplantation in Familial Dysautonomia

Uncommon side effects of common drugs in patients with familial dysautonomia

Inherited Glomerular Diseases

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