Asunto(s)
Subunidad alfa 2 del Factor de Unión al Sitio Principal/genética , Mutación del Sistema de Lectura , Mutación Missense , Trombocitemia Esencial/genética , Adulto , Plaquetas/ultraestructura , Tamaño de la Célula , Niño , Preescolar , Subunidad alfa 2 del Factor de Unión al Sitio Principal/química , Femenino , Genes Dominantes , Heterocigoto , Humanos , Intrones/genética , Leucemia Mieloide Aguda/genética , Masculino , Persona de Mediana Edad , Dominios Proteicos/genética , Sitios de Empalme de ARN/genética , Eliminación de Secuencia , Trombocitemia Esencial/sangre , Trombopoyetina/sangre , Activación Transcripcional/genética , Adulto JovenAsunto(s)
Diabetes Mellitus Tipo 2/genética , Factor Nuclear 1-alfa del Hepatocito/genética , Mutación , Adulto , Factores de Transcripción con Motivo Hélice-Asa-Hélice Básico/genética , Niño , Análisis Mutacional de ADN , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/epidemiología , Frecuencia de los Genes , Glucoquinasa/genética , Factor Nuclear 1-beta del Hepatocito/genética , Factor Nuclear 4 del Hepatocito/genética , Proteínas de Homeodominio/genética , Hospitales , Humanos , Italia/epidemiología , Linaje , Polimorfismo de Nucleótido Simple , Prevalencia , Transactivadores/genéticaRESUMEN
PURPOSE: Desmopressin may not be effective for nocturnal enuresis associated with polyuria and hypercalciuria. Nighttime hypercalciuria in an enuretic population from 5 centers and its correlation with nighttime polyuria were verified. MATERIALS AND METHODS: A total of 450 enuretic patients (278 males, 172 females, mean age 9.7 years) were evaluated with 72-hour micturition charts, urinalysis, serum creatinine and osmolarity, diurnal and nocturnal electrolytes with fractional Na+ and K+ urinary excretion, and nocturnal (4 a.m.) plasma vasopressin. Creatinine electrolytes and osmolarity were measured in daytime (8 a.m. to 8 p.m.) and nighttime (8 p.m. to 8 a.m.) urine volumes. Patients were divided into group 1 with nocturnal polyuria and group 2 without nocturnal polyuria. Hypercalciuria was defined as urinary calcium-to-urinary creatinine ratio greater than 0.21. Statistic evaluation was performed using chi-square, Pearson correlation and ANOVA tests. RESULTS: Nighttime polyuria was demonstrated in 292 bedwetters (65% group 1). Nocturnal hypercalciuria was present in 179 of the 450 children (39.7%), including 125 in group 1 (42.8%) and 54 in group 2 (34.2%), which was statistically significant (chi-square p = 0.008, Pearson correlation test r = 0.157). Daytime calciuria was not statistically modified in either group (group 1 p = 0.054, group 2 p = 0.56). Adrenocorticotropic hormone (ADH) was normal in 18.5% and low in 81.5% of enuretics with nocturnal hypercalciuria. ADH levels and nocturnal hypercalciuria significantly correlated (p = 0.003, r = 0.148). Conversely, the group 2 patients had normal ADH levels. CONCLUSIONS: Nocturnal hypercalciuria has a pivotal role in nocturnal enuresis, as it is significantly associated with low ADH levels and nocturnal polyuria. A new classification of nocturnal enuresis subtypes based on nighttime calciuria levels is mandatory to address treatment properly.