RESUMO
We report three patients diagnosed with Fabry disease through a screening study which included individuals suffering from chronic kidney disease (CKD) at any stage. The study recruited 1740 male patients, and three Fabry patients were diagnosed, resulting in a frequency of 0.17%. The analysis by CKD stage group revealed frequencies of 3.03%, 0.77% and 0.17%, in CKD1, CKD3 and CKD5, respectively. Pedigree analysis was carried out for these families, with a high ratio index: pedigree (1:16). This study underlines the importance of considering Fabry disease in the differential diagnosis at every stage of CKD, including the early ones, and stresses the possibility of finding patients with late onset phenotypes.
Assuntos
Doença de Fabry , Insuficiência Renal Crônica , Masculino , Humanos , Doença de Fabry/complicações , Doença de Fabry/diagnóstico , Doença de Fabry/genética , Argentina/epidemiologia , Insuficiência Renal Crônica/diagnóstico , Insuficiência Renal Crônica/epidemiologia , Programas de Rastreamento , Linhagem , alfa-GalactosidaseRESUMO
INTRODUCTION: Inborn errors of intermediary metabolism (IEiM) are a group of heterogeneous genetic diseases that are diagnostically challenging and cause significant morbidity and mortality. The aim of this study is to perform a descriptive analysis of the number, type, and clinical features, in a series of cases with IEiM identified through selective diagnosis in a highly specialized pediatric hospital. MATERIALS AND METHODS: A retrospective study was performed from January of 2000 to December of 2012 by analyzing the files of 204 patients with an IEiM, by selective screening, before and after the implementation of tandem mass spectrometry (MS/MS). RESULTS: A total of 25 different types of IEiM were found in the 204 files; 102 organic acidurias, 100 aminoacidopathies, and 2 fatty acid oxidation disorders. The introduction of MS/MS increased the number of cases detected by 50%. Patients were referred from 13 different specialists, with pediatricians being the most active. The average interval between onset of symptoms and diagnosis was 18 months. CONCLUSION: Among the sick Mexican children studied, a wide variety of IEiM was found, propionate defects and maple syrup urine disease being noteworthy. The diagnosis of metabolic disease was delayed in the population studied. These results present evidence to perhaps incorporate IEiM into an expanded newborn screening, or else to perform selective diagnosis in all hospitalized children with suggestive clinical data.