Urinary incontinence in familial dysautonomia

Saini, Jyot; Axelrod, Felicia B.; Maayan, Channa; Stringer, Jane A.; Smilen, Scott W.

doi:10.1007/s00192-002-1022-3

Cited by 9 publications

(3 citation statements)

References 21 publications

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“…Renal perfusion improves at night when adopting the supine position, resulting in improved glomerular filtration and urine output . Nocturnal polyuria has been reported in other neurological disorders associated with cardiovascular dysautonomia, such as familial dysautonomia, where biopsies in individuals with renal impairment demonstrate ischemic‐type glomerulosclerosis and deficient vascular innervation . Studies in healthy elderly men with nocturnal polyuria have demonstrated alterations in the circadian pattern of blood pressure variations, increased daytime mean arterial blood pressure, nocturnal natriuresis, and reduced angiotensin II and arginine vasopressin levels, compared to controls .…”

Section: Discussionmentioning

confidence: 99%

Nocturia in Patients With Parkinson's Disease

Smith

Seth

Batla

et al. 2015

Movement Disord Clin Pract

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Background: Waking up from sleep more than once to pass urine, known as nocturia, is an important nonmotor symptom in Parkinson's disease (PD). Very little is known about the cause for nocturia. The aim of this work was to evaluate lower urinary tract (LUT) symptoms in patients with PD reporting nocturia using standardized validated questionnaires and bladder diaries and to assess the impact of nocturia on quality of life and sleep. Methods: Twenty-three consecutive patients with PD (17 males, 6 females; mean age: 68.5 years; range, 50-85) referred to a specialist uro-neurology clinic reporting nocturia according to the International Continence Society definition were included. Patients measured their daily fluid intake, urinary output per void, and recorded these with the timing of voids on a 3-day bladder diary. Standardized questionnaires were used to assess LUT symptoms (Urinary Symptom Profile, International Prostate Symptom Score, and Qualiveen Short Form) and sleep quality (Parkinson's Disease Sleep Scale). Results: Mean duration of PD was 10.1 years, and mean severity on H & Y scale was 3.0 (range, 1.0-5.0). Median duration of LUT symptoms was 6.0 years. Mean night-time urinary frequency was 3.5 (range, 1.0-7.3), and mean nocturnal maximum voided volume was 242 mL. Mean Nocturnal Polyuria Index (NPi) was 0.4 (range, 0.13-0.75), and 13 patients (56.5%) had nocturnal polyuria (NPi > 0.33). Patients with nocturnal polyuria reported more-severe LUT symptoms that impacted quality of life and sleep. Conclusions: In this preliminary study, nocturnal polyuria seems to be common in patients with PD reporting nocturia and appears to affect quality of life and sleep, though this was not statistically significant. The bladder diary is an essential tool in the assessment of nocturia in patients with PD.Parkinson's disease (PD) is the second-most common neurodegenerative condition. Although predominantly a disorder of motor control, PD is commonly associated with nonmotor symptoms. Lower urinary tract (LUT) symptoms are common in PD, with nocturia being present in up to 60% of patients who completed the standardized, validated Non-Motor Symptoms questionnaire.1 Nocturia is considered as one of the commonest nonmotor symptoms. Mean prevalence of nocturia in PD is 63.2%, but ranges widely (35-78%) between studies. Nocturia has an immense impact on quality-of-life measures, health-related costs, and is associated with the need for early institutionalisation. 2The causes for nocturia in PD are poorly understood. 3-5Most often, nocturia may result from reduced nocturnal bladder capacity owing to an overactive bladder (OAB). Symptoms of OAB-urinary urgency, increased daytime and night-time frequency, and incontinence-are common in PD and reported in 33% to 54% of patients. 6,7 Urodynamic investigations in PD patients reporting OAB symptoms demonstrate detrusor overactivity in most patients (43-93%), 8 but nocturia may also be the result of nocturnal polyuria, which is characterized by increased nocturnal urine pro...

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Section: Discussionmentioning

confidence: 99%

Nocturia in Patients With Parkinson's Disease

Smith

Seth

Batla

et al. 2015

Movement Disord Clin Pract

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“…[48][49][50] Further research might explore the choice of product and the personal struggles that may occur. [48][49][50] Further research might explore the choice of product and the personal struggles that may occur.…”

Section: ■ Discussionmentioning

confidence: 99%

Effects of Introducing a Specialized Nurse in the Care of Community-Dwelling Women Suffering From Urinary Incontinence

Moulin

Hamers²,

Paulus³

et al. 2007

Journal of Wound, Ostomy &Amp; Continence Nursing

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“…66 Nighttime bladder control is usually achieved at a later age than in normal children. Treatment with desmopressin should be avoided due to the propensity for hyponatremia.…”

Section: Renal and Urologic Treatmentsmentioning

confidence: 99%

Current treatments in familial dysautonomia

Palma

Kaufmann

Fuente-Mora

et al. 2014

Expert Opinion on Pharmacotherapy

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Introduction Familial dysautonomia (FD) is a rare hereditary sensory and autonomic neuropathy (type III). The disease is caused by a point mutation in the IKBKAP gene that affects the splicing of the elongator-1 protein (also known as IKAP). Patients have dramatic blood pressure instability due to baroreflex failure, chronic kidney disease, and impaired swallowing leading to recurrent aspiration pneumonia, which results in chronic lung disease. Diminished pain and temperature perception results in neuropathic joints and thermal injuries. Impaired proprioception leads to gait ataxia. Optic neuropathy and corneal opacities lead to progressive visual loss. Areas covered This article reviews current therapeutic strategies for the symptomatic treatment of FD, as well as the potential of new gene modifying agents. Expert opinion Therapeutic focus on FD is centered on reducing the catecholamine surges caused by baroreflex failure. Managing neurogenic dysphagia with effective protection of the airway passages and prompt treatment of aspiration pneumonias is necessary to prevent respiratory failure. Sedative medications should be used cautiously due to risk of respiratory depression. Non-invasive ventilation during sleep effectively manages apneas and prevents hypercapnia. Clinical trials of compounds that increase levels of IKAP (ELP-1) are underway and will determine whether they can reverse or slow disease progression.

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Urinary incontinence in familial dysautonomia

Cited by 9 publications

References 21 publications

Nocturia in Patients With Parkinson's Disease

Nocturia in Patients With Parkinson's Disease

Effects of Introducing a Specialized Nurse in the Care of Community-Dwelling Women Suffering From Urinary Incontinence

Current treatments in familial dysautonomia

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