RESUMO
OBJECTIVE: To test the hypothesis that 1-desamino-8-D-arginine vasopressin (dDAVP) has an effect on prepulse inhibition (PPI) of startle in patients with primary monosymptomatic enuresis (PME), thus indicating a central effect. STUDY DESIGN: Patients with PME (n = 21, age 6 to 12 years) were enrolled in a prospective, randomized, double-blinded, cross-over study. Startle reflexes and PPI were measured under dDAVP treatment versus placebo. RESULTS: The data show that dDAVP has a significant effect on PPI, raising it from 38.88% under placebo to the age-related normal level of 62.6% with dDAVP treatment (P = .0127). CONCLUSIONS: Our findings revive the concept of a central pathophysiology of PME and offer a different explanation for the effects of dDAVP, which not only acts on the kidney, but also is (as is AVP) a central neurotransmitter with a signal cascade on relevant reflex mechanisms.
Assuntos
Desamino Arginina Vasopressina/farmacologia , Inibição Neural/efeitos dos fármacos , Enurese Noturna/fisiopatologia , Reflexo de Sobressalto/efeitos dos fármacos , Estimulação Acústica , Criança , Estudos Cross-Over , Desamino Arginina Vasopressina/uso terapêutico , Método Duplo-Cego , Eletromiografia , Feminino , Humanos , Masculino , Enurese Noturna/tratamento farmacológico , Enurese Noturna/etiologia , Reflexo de Sobressalto/fisiologiaRESUMO
Dominant mutations in the erythropoietin receptor (EPOR) gene account for only about 15% of cases of primary congenital erythrocytosis. To search for molecular alterations in patients with this disorder. Sixteen patients with Epo <10 mU/mL were studied, 3 were related. Analyses included EPOR and JAK2 gene sequencing, quantitative PRV-1 RT-PCR, and erythroid colony assays. A novel sporadic EPOR 1453G->A (Trp439Stop) mutation was detected. All familial cases, varied in phenotype, presented the EPOR 1414C->G (Tyr426Stop) mutation. JAK2 mutations are not involved in the pathogenesis of primary congenital erythrocytosis.
