Quantitating nocturia: a study into the recording of solute and water excretion to determine causation.

BACKGROUND: Nocturia is common but the clinical assessment of its severity and cause rarely involves any biochemical analysis. Investigating the cause of nocturia needs to be informed by the overall 24 h fluid and solute excretion patterns. The aim of this study was to establish a practical method of monitoring the renal excretion of water and solutes over a complete 24 h cycle. METHODS: The excretion patterns of sodium, volume and osmoles were assessed in 89 healthy control subjects over a 24 h period by sampling each voiding from the 24 h collection and then using the total urine creatinine as the denominator. A group of 21 patients under investigation for sleep-disordered breathing (SDB: a group of disorders known to increase the risk of nocturia) were also studied to determine comparative excretion patterns. RESULTS: Reference excretion patterns of sodium, volume and osmoles were described. Patients under investigation for SDB had overall a significant (P < 0.001) increase in urine sodium excretion at night (nocturnal natriuresis) matched by an increased osmotic excretion and accompanied by a significantly increased nocturnal urine volume (P < 0.001). CONCLUSION: Breaking down a 24 h urine collection into voided aliquots provides practical information on the pattern of water and solute excretion. Such patterns may assist in identifying the underlying mechanism of significant nocturia in individual patients presenting with this symptom, and could be used as a method of monitoring treatment.

Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure.

Perry syndrome is a rare form of autosomal dominant Parkinsonism with respiratory failure recently defined as being due to mutations in the DCTN1 gene. We describe a new family carrying a G71R mutation in the DCTN1 gene. The proband displayed a series of distinctive features not previously described in Perry syndrome: a disorder of vertical downward saccades accompanied by progressive midbrain atrophy, predominant nonmotor symptoms responsive to levodopa, distinctive craniocervical levodopa induced dyskinesias, and a good response to high-dose levodopa therapy and respiratory support. The family was initially thought to have autosomal dominant behavioral variant frontotemporal dementia with Parkinsonism. This report expands the clinical definition of this distinctive syndrome.

Sleep disturbance, stroke, and heart disease events: evidence from the Caerphilly cohort.

OBJECTIVE: To test the hypothesis that sleep disorders are relevant to the risk of ischaemic stroke and ischaemic heart disease events in older men. DESIGN: A cohort study. SETTING: The Caerphilly cohort, a representative population sample of older men in South Wales, UK. PARTICIPANTS: 1986 men aged 55-69 years completed a questionnaire on sleep patterns with help from their partners. This asked about symptoms of disturbed sleep: insomnia, snoring, restless legs, obstructive sleep apnoea, and about daytime sleepiness. During the following 10 years 107 men experienced an ischaemic stroke and 213 had an ischaemic heart disease event. MAIN RESULTS: Up to one third of the men reported at least one symptom suggestive of sleep disturbance, and one third reported daytime sleepiness. Compared with men who reported no such symptoms, the adjusted relative odds of an ischaemic stroke were significantly increased in men with any sleep disturbance, the strongest association being with sleep apnoea (relative odds 1.97; 1.26 to 3.09). The association with daytime sleepiness was not significant for stroke. Relations with ischaemic heart disease events were all raised in men with symptoms of sleep disturbance, but none was significant, other than daytime sleepiness (relative odds: 1.41; 1.04 to 1.92). There were no significant relations with blood pressure. CONCLUSION: The risk of an ischaemic stroke is increased in men whose sleep is frequently disturbed, and daytime sleepiness is associated with a significant increase in ischaemic heart disease events.