Fundoplication and gastrostomy in familial dysautonomia

Axelrod, Felicia B.; Gouge, Thomas H.; Ginsburg, Howard B.; Bangaru, Babu S.; Hazzi, Charles

doi:10.1016/s0022-3476(05)82152-3

Cited by 42 publications

(25 citation statements)

References 22 publications

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“…Medications include diazepam and clonidine during dysautonomic crises and for hypertension, and fludrocortisone (a min-eralocorticoid) and midodrine (a peripheral alpha1-agonist) for orthostatic hypotension (15). Surgical interventions include Nissen fundoplication and gastrostomy tube placement to ensure adequate hydration and caloric intake, prevent aspiration, and decrease the frequency of overt vomiting (16). These targeted treatments are also likely to be important in addressing the development and/or progression of kidney disease, as both cardiovascular instability and chronic volume depletion increase the risk of severe CKD.…”

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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“…Artificial tears and cautery of the tear ducts are used to increase eye moisture levels (Gold-von Simson and Axelrod 2006). In patients with a misdirected swallow, a gastrostomy is often recommended to prevent aspiration and to allow for increased caloric intake and effective hydration (Axelrod et al 1991). Patients experiencing gastroesophogeal reflux are placed on a regimen of antireflux medications .…”

Section: Clinical Management Of Fdmentioning

confidence: 99%

“…Patients experiencing gastroesophogeal reflux are placed on a regimen of antireflux medications . Patients who fail to respond to these medications often undergo a fundoplication (Axelrod et al 1991). Inhalation of bronchiodialators and chest physiotherapy (Giarraffa et al 2005) are used to improve pulmonary function.…”

Section: Clinical Management Of Fdmentioning

confidence: 99%

The Molecular Basis of Familial Dysautonomia: Overview, New Discoveries and Implications for Directed Therapies

Rubin

Anderson

2007

Neuromol Med

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Familial dysautonomia (FD) is a sensory and autonomic neuropathy that affects the development and survival of sensory, sympathetic, and some parasympathetic neurons. It is autosomally inherited and occurs almost exclusively among individuals of Ashkenazi Jewish descent. The pathological and clinical manifestations of FD have been extensively studied and therapeutic modalities have, until recently, focused primarily on addressing the symptoms experienced by those with this fatal disorder. The primary FD-causing mutation is an intronic nucleotide substitution that alters the splicing of the IKBKAP-derived transcript. Recent efforts have resulted in the development of new therapeutic modalities that facilitate the increased production of the correctly spliced transcript and mitigate the symptoms of those with FD. Furthermore, the recent demonstration of the reduced presence of monoamine oxidase A in cells and tissues of individuals with FD has provided new insight into the cause of hypertensive crises experienced by these patients.

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“…Initially medical management with prokinetic agents, H 2 -antagonists, thickening of feeds, and positioning can be tried. However, if medical management is not successful, using the criteria of persistence of poor weight gain and growth, pneumonia, hematemesis, or apnea, then surgical intervention (fundoplication) is recommended [8,13,17,22,75].…”

Section: Esophageal and Gastric Dysmotilitymentioning

confidence: 99%

“…However liquids tend to remain problematic and an increasing number of children with familial dysautonomia are being treated with Nissen fundoplication with gastrostomy [5,8,13,17,22,75]. …”

Section: Aspirationmentioning

confidence: 99%

A world without pain or tears*

Axelrod

2006

Clin Auton Res

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The world of the child with familial dysautonomia (FD), a genetic disorder affecting development of the sensory and autonomic nervous system, is not idyllic. However, over the last 35 years advances in supportive treatments have improved morbidity and mortality. Recent genetic breakthroughs have further expanded thinking about this disorder and suggested innovative approaches to modifying genetic expression. This article reviews the current supportive treatment modalities and their rationale, as well as the suggested new treatments that may alter the function and prognosis of an individual affected with FD.

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Fundoplication and gastrostomy in familial dysautonomia

Cited by 42 publications

References 22 publications

Renal Transplantation in Familial Dysautonomia

Renal Transplantation in Familial Dysautonomia

The Molecular Basis of Familial Dysautonomia: Overview, New Discoveries and Implications for Directed Therapies

A world without pain or tears*

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