Anesthesia management of familial dysautonomia

Ngai, Jennie; Kreynin, Ilya; Kim, Jung T.; Axelrod, Felicia B.

doi:10.1111/j.1460-9592.2006.01947.x

Cited by 21 publications

(34 citation statements)

References 54 publications

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“…They include abnormal ventilatory responses to hypoxia; hypotension during anesthetic induction related to hypovolemia and/or bradycardia; supine hypertension; dysautonomic crises precipitated by the stress of surgery and/or postoperative visceral pain; and postoperative fever due to infection, atelectasis, and/or primary temperature dysregulation (18). Supportive measures such as preoperative admission for intravenous hydration and advances in anesthesia, combined with more clinical experience with the disease, have contributed to improved morbidity and mortality (19). In our cases, intraoperative issues related to BP control were manageable; this has been described in detail from the anesthetic perspective (20,21).…”

Section: Discussionmentioning

confidence: 99%

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: Discussionmentioning

confidence: 99%

Renal Transplantation in Familial Dysautonomia

Rekhtman¹,

Bomback²,

Nash³

et al. 2010

Clinical Journal of the American Society of Nephrology

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“…The carrier frequency in Jewish individuals of Eastern European (Ashkenazi) ancestry is about 1/30, while the carrier frequency in non-Jewish individuals is about 1/3000 [1,2]. Signs of this disorder are usually present at birth and increase with age.…”

Section: Introductionmentioning

confidence: 96%

“…Familial dysautonomia, also known as Riley-Day syndrome or hereditary sensory and autonomic neuropathy type 3, is an inherited disorder affecting primarily individuals of Ashkenazi/Eastern European Jewish descent in an autosomal recessive fashion, causing incomplete neuronal development, as well as neuronal degeneration within the peripheral and autonomic nervous system [1][2][3][4]. The carrier frequency in Jewish individuals of Eastern European (Ashkenazi) ancestry is about 1/30, while the carrier frequency in non-Jewish individuals is about 1/3000 [1,2].…”

Section: Introductionmentioning

confidence: 99%

“…

this condition has a 50% probability of reaching the age of 40 [1,2]. This disorder provides signifi cant anesthetic challenges affecting multiple organ systems.

Case presentation

This case involves a 27-year-old male patient with familial dysautonomia presenting for living-related kidney transplantation.

…”

mentioning

confidence: 97%

“…this condition has a 50% probability of reaching the age of 40 [1,2]. This disorder provides signifi cant anesthetic challenges affecting multiple organ systems.…”

mentioning

confidence: 98%

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Anesthetic management of renal transplantation in a patient with familial dysautonomia

Koshibe

Lee

2009

J Anesth

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Familial dysautonomia is an inherited disorder characterized by autonomic and sensory nervous system neuropathy resulting in extremely labile blood pressure (severe hypertension followed by hypotension). As more patients with familial dysautonomia reach adulthood due to improved medical treatment, perioperative encounters of patients with familial dysautonomia will increase. This report is the first adult case to describe an anesthetic management of kidney transplantation for an adult familial dysautonomia patient. The clinical manifestations of this disease and rationale of our anesthetic management are discussed.

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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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Anesthesia management of familial dysautonomia

Cited by 21 publications

References 54 publications

Renal Transplantation in Familial Dysautonomia

Renal Transplantation in Familial Dysautonomia

Anesthetic management of renal transplantation in a patient with familial dysautonomia

Uncommon side effects of common drugs in patients with familial dysautonomia

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