RESUMO
OBJECTIVE: To identify genetic and nongenetic risk factors that contribute to the severity of the bladder exstrophy-epispadias complex (BEEC). STUDY DESIGN: Patients with BEEC from North America (n = 167) and Europe (n = 274) were included. The following data were collected: associated anomalies, parental age at conception, mode of conception, periconceptional folic acid supplementation, maternal risk factors during pregnancy, and environmental risk factors. The patients were divided into 3 subgroups according to phenotype severity: (i) mild, epispadias (n = 43); (ii) intermediate, classic bladder exstrophy (n = 366); and (iii) severe, cloacal exstrophy (n = 31). These subgroups then were compared with identify factors that contribute to phenotype severity. RESULTS: Males were overrepresented in all subgroups. A relatively high prevalence of cleft lip, with or without cleft palate, was observed. Maternal smoking and medical radiation during the first trimester were associated with the severe cloacal exstrophy phenotype. Compliance with periconceptional folic acid supplementation was associated with the mildest phenotype (epispadias). CONCLUSIONS: Periconceptional folic acid supplementation appears to prevent the development of the severe phenotype of BEEC.
Assuntos
Extrofia Vesical/epidemiologia , Epispadia/epidemiologia , Adulto , Antiácidos/uso terapêutico , Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Europa (Continente)/epidemiologia , Feminino , Fertilização in vitro/estatística & dados numéricos , Ácido Fólico/uso terapêutico , Humanos , Masculino , Idade Materna , Pessoa de Meia-Idade , América do Norte/epidemiologia , Idade Paterna , Fenótipo , Gravidez , Primeiro Trimestre da Gravidez , Cuidado Pré-Natal , Radiografia/estatística & dados numéricos , Fatores de Risco , Índice de Gravidade de Doença , Distribuição por Sexo , Fumar/epidemiologia , Injeções de Esperma Intracitoplásmicas/estatística & dados numéricos , Inquéritos e Questionários , Complexo Vitamínico B/uso terapêuticoRESUMO
OBJECTIVE: To compare the renal and extra-renal phenotypes of patients classified as having Dent disease, Dent-2 disease, or Lowe syndrome. STUDY DESIGN: Chart review of data from 93 patients with identified voltage-gated chloride channel and chloride/proton antiporter 5 gene and oculo-cerebro-renal syndrome of Lowe gene mutations observed by the authors, complemented with published data. RESULTS: There was a wide overlap of renal symptoms. Nephrocalcinosis was more prevalent in Dent-1 disease, and renal tubular acidosis, aminoaciduria, and renal failure was more prevalent in patients with Lowe syndrome. Patients with Lowe syndrome were shorter than patients with Dent-1 disease, and patients with Dent-2 disease showed an intermediate phenotype. Three patients with Dent-2 disease had mild peripheral cataract, and 9 patients were noted to have some degree of mental retardation. CONCLUSION: There is a phenotypic continuum within patients with Dent-2 disease and Lowe syndrome, suggesting that there are individual differences in the ability to compensate for loss of oculo-cerebro-renal syndrome of Lowe gene function.