RESUMEN
The aim of the study was to characterize clinically and biochemically mucopolysaccharidosis type II (MPS II) heterozygotes. Fifty-two women at risk to be a carrier, with a mean age of 34.1 years (range 16-57 years), were evaluated through pedigree analysis, medical history, physical examination, measurement of iduronate sulfatase (IDS) activities in plasma and in leukocytes, quantification of glycosaminoglycans (GAGs) in urine, and analysis of the IDS gene. Eligibility criteria for the study also included being 16 years of age or older and being enrolled in a genetic counselling programme. The pedigree and DNA analyses allowed the identification of 40/52 carriers and 12/52 non-carriers. All women evaluated were clinically healthy, and their levels of urinary GAGs were within normal limits. Median plasma and leukocyte IDS activities found among carriers were significantly lower than the values found for non-carriers; there was, however, an overlap between carriers' and non-carriers' values. Our data suggests that MPS II carriers show lower plasma and leukocyte IDS activities but that this reduction is generally associated neither with changes in levels of urinary GAGs nor with the occurrence of clinical manifestations.
Asunto(s)
Heterocigoto , Mucopolisacaridosis II/genética , Adolescente , Adulto , Biomarcadores/análisis , Biomarcadores/orina , Estudios de Casos y Controles , Análisis Mutacional de ADN , Familia , Salud de la Familia , Femenino , Glicoproteínas/análisis , Glicoproteínas/genética , Glicosaminoglicanos/análisis , Glicosaminoglicanos/orina , Humanos , Persona de Mediana Edad , Mucopolisacaridosis II/diagnóstico , Mucopolisacaridosis II/orina , Linaje , Examen Físico , Adulto JovenRESUMEN
O presente estudo relata as frequencias de variantes da colinesterase do soro em uma amostra de 200 recem-nascidos da Maternidade do Hospital de Clinicas de Curitiba (UFPR). Entre os 8 individuos com fenotipo nao-usual detectados, 5 sao I (intermediarios), 2 nao foi possivel determinar atraves da tecnica empregada (Morrow and Motulsky, 1968) e 1 comportou-se bioquimicamente como S (silencioso). Este ultimo, quando retipado posteriormente, reagiu como os de fenotipo usual. A frequencia dos individuos com fenotipo nao-usual (3,5 +/- 1,3%) nao difere estatisticamente das frequencias ate agora encontradas em outras amostras da populacao brasileira