RESUMO
Macedonia is a multiethnic developing country with a new democratic political system in transition from a former communist country. The country gained independence as former Yugoslav Republic of Macedonia in 1991. Recent health reforms have privatized pediatric primary care and introduced family doctors alongside primary care pediatricians. Increasing privatization of hospitals have left the state-run hospitals short of pediatric specialists and subspecialists as doctors moved to private hospitals for better salaries and working conditions. There is little coordinated action between the Ministry of Health, health insurance fund, and Macedonian pediatricians to overcome the problems that now exist within the pediatric/child health system because of these recent reforms, which were politically driven without consultation with the Macedonian Pediatric Association. These recent decisions will have an adverse effect on the quality of care for children and families, which will likely continue for another 5-10 years.
Assuntos
Serviços de Saúde da Criança , Reforma dos Serviços de Saúde , Qualidade da Assistência à Saúde , Criança , Pré-Escolar , Grécia , HumanosRESUMO
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.
Assuntos
Síndrome Oculocerebrorrenal/genética , Erros Inatos do Transporte Tubular Renal/genética , Acidose Tubular Renal/genética , Adolescente , Estatura/genética , Catarata/genética , Criança , Pré-Escolar , Canais de Cloreto/genética , Taxa de Filtração Glomerular , Humanos , Lactente , Deficiência Intelectual/genética , Mutação , Nefrocalcinose/genética , Fenótipo , Monoéster Fosfórico Hidrolases/genética , Aminoacidúrias Renais/genética , Insuficiência Renal/genética , Adulto JovemRESUMO
The patient is a 24-year-old woman who first came for consultation at age 10 years. Based on clinical phenotype and thin-layer chromatography of urinary oligosaccharides, peripheral leukocytes were sent for beta-galactosidase assay. This testing showed a deficiency in enzyme activity, and gene mutation analysis identified a previously reported mutation p.H281Y (875C > T) and a novel mutation p.W273R (817T > C). Unlike previously reported patients, mutant enzymes in this patient's cultured skin fibroblasts did not respond to treatment with a chaperone compound, N-octyl-4-epi-beta-valienamine.