RESUMEN
Presented in the paper are the results of monitoring of congenital defects (CD) among newborns in Nizhniy Novgorod Region in 1999-2003. All CD were subject to routine registration at maternity homes, pediatric clinics and dissection rooms of hospitals. The mean CD prevalence made, during the mentioned period, 15 cases per 1000 newborns, which is in keeping with the CD figures registered in other regions of Russia. The share of some nosological CD forms is in line with the results of the International Registry.
Asunto(s)
Anomalías Congénitas/epidemiología , Monitoreo Fisiológico , Adolescente , Adulto , Áreas de Influencia de Salud , Femenino , Humanos , Masculino , Federación de Rusia/epidemiologíaRESUMEN
A large Russian family with multiple cases of Fabry disease in several generations is presented. Fourteen family members were clinico-biochemically examined. Among 12 adult children (19-32 years old) of one couple, five sons manifested angiokeratotic skin lesions and other Fabry symptoms. Biochemical studies including an enzyme assay, the analysis of glycosphingolipid excretion and isoelectric focusing of a patient leukocyte extract allowed us to identify Fabry disease in four affected brothers and to establish the heterozygous status of their mother. The analysis of genomic DNA of four patients and their mother revealed a novel E341K missense mutation caused by a G to A transition (codon 341 GAA-AAA) in the alpha-galactosidase A gene.
Asunto(s)
Enfermedad de Fabry/etnología , alfa-Galactosidasa/genética , Adulto , Sustitución de Aminoácidos , Preescolar , Enfermedad de Fabry/enzimología , Enfermedad de Fabry/genética , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Linaje , Federación de RusiaRESUMEN
Fourteen members of family P. and four members of family N. were clinico-biochemically examined. Among twelve adult children (19-32 years old) of family P. five sons manifested angiokeratotic skin lesions and other clinical signs of Fabry disease. Three of the probands had additional symptoms not generally found in Fabry disease. Biochemical studies including an enzyme assay, analysis of storage products and alpha-galactosidase multiple forms, allowed us to confirm the diagnosis of Fabry disease in four affected brothers and to establish the heterozygous status of their mother. The data of biochemical investigation of patient N. with atypical variant of Fabry disease are also presented. The patient N. with strong skin lesions had a high residual alpha-galactosidase activity and unusual composition of alpha-galactosidase multiple forms.