RESUMO
INTRODUCTION: Our aim was to describe the lower urinary tract symptoms (LUTS) and urodynamic findings in Charcot-Marie-Tooth (CMT) disease patients referred to our Urology Department. METHODS: Retrospective study of those patients with CMT disease diagnosed at the Neurology Department of our Tertiary Hospital and referred to our Urology Department since 2008 due to LUTS. We reviewed their clinical charts regarding the age at CMT disease diagnosis, type of CMT disease and the presence of other comorbidities which could cause LUTS. We collected data on the characterization of LUTS, findings of neurological examination and urodynamic findings. RESULTS: Seven patients were referred to our department due to the presence of LUTS. They were 3 male and 4 female, with median age at the moment of LUTS onset of 55 (29-67) years and median time from the diagnosis of the neuropathy to the onset of LUTS was 14 (1-37) years. Voiding symptoms were referred by 5 patients and urinary incontinence by 3 patients. Two patients presented recurrent urinary tract infection. Six urodynamic tests were performed which showed a neurogenic acontractile detrusor in 2 patients, detrusor underactivity in one patient, a delayed opening time in one patient, a neurogenic detrusor overactivity in one patient and a urodynamic stress incontinence in one patient. In one patient the urodynamic test was normal. CONCLUSIONS: Most of CMT patients with LUTS complained from voiding symptoms. Several urodynamic findings could be observed mostly during the voiding phase. We recommend performing urodynamic tests in CMT patients presenting with LUTS seeking for treatment or in those with related complications.
Assuntos
Doença de Charcot-Marie-Tooth/complicações , Sintomas do Trato Urinário Inferior/etiologia , Sintomas do Trato Urinário Inferior/fisiopatologia , Urodinâmica , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos RetrospectivosRESUMO
Platelet aggregation tests and studies comprising [14C] arachidonic acid [14C]AA incorporation, release and metabolism were performed in resting and thrombinstimulated platelets of 11 patients with essential thrombocythaemia (ET) and 11 normal subjects. Nine patients had abnormal aggregation tests. Incorporation and distribution of [14C]AA in main platelet phospholipids (PLs) was similar in both groups. Activated platelets of patients with ET released more radioactivity from PLs that controls (13.7 +/- 5.4% versus 8.2 +/- 1.9%, p < 0.01). The formation of 12-L-hydroxy-5,8,10-heptadecatrienoic acid (HHT) was also increased (3.3 +/- 1.4% of total radioactivity versus 1.6 +/- 0.4% in controls (p < 0.0001). The same results were obtained for the generation of thromboxane B2 (p < 0.01). We did not detect differences in the formation of 12-L-hydroxy- 5,8,10,14-eicosatetraenoic acid (3.3 +/- 1.7% in patents versus 2.0 +/- 0.5% in controls). These results indicate that platelets of patients with ET have an increased activity of phospholipases and suggest a facilitated metabolism of arachidonate by the prostaglandinsynthetase pathway. Our results also demonstrate that impairment of aggregation tests in these patients was not due to a defective activity of the enzymes involved in the release and metabolism of AA by platelets.