title: Screening for Attenuated Forms of Mucopolysaccharidoses in Patients with Osteoarticular Problems of Unknown Etiology.
abstract: BACKGROUND
  The mucopolysaccharidoses (MPS) are a group of 11 inborn errors of metabolism (IEM) which are part of the lysosomal storage diseases (LSDs). The MPS are multisystemic conditions that affect the entire body, with variations in the clinical presentation, having specific treatments available depending on the type of MPS. Nearly all MPS disorders compromise the osteoarticular system in different ways, and virtually all patients have abnormal urinary excretion of glycosaminoglycans (GAGs). MPS are rare diseases that are underdiagnosed due to health-care professionals' lack of awareness, to poor access to screening and diagnostic methods, and to their extensive clinical heterogeneity. Attenuated forms may occur, which can make diagnosis of MPS even more difficult.
  
  
  METHODS
  This study was conducted prospectively from March 2012 to January 2014 and included 55 patients at rheumatology and/or orthopedic services in Porto Alegre, Brazil. The screened patients presented with articular manifestations with no defined etiology. These patients were screened by quantitative and qualitative assessment of urinary GAGs.
  
  
  CONCLUSIONS
  Among the 55 cases investigated, one 15-year-old patient exhibited increased urinary GAG excretion; this patient was subsequently diagnosed with an attenuated form of MPS II, which was previously undetected.
  
  
  CONCLUSIONS
  Although the proportion of patients with MPS identified in the study sample was small (1/55), this study shows that these diseases are underdiagnosed and that systematic screening can help identify patients who may benefit from specific treatments already available for several MPS types.
authors: Postgraduate Program in Child and Adolescent Health, UFRGS, Porto Alegre, RS, Brazil.
authors: Thabata Caroline
authors: TC
authors: da Rocha Siqueira
authors: Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.
authors: Carolina Fischinger Moura
authors: CF
authors: de Souza
authors: Orthopedics and Traumatology Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.
authors: Paulo
authors: P
authors: Lompa
authors: Hospital São Lucas, PUCRS, Porto Alegre, RS, Brazil.
authors: Mercedes
authors: M
authors: Picarelli
authors: Grupo Hospitalar Conceição, Porto Alegre, RS, Brazil.
authors: Ilóite
authors: I
authors: Scheibel
authors: Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.
authors: Fernanda
authors: F
authors: Bender
authors: Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.
authors: Régis
authors: R
authors: Guidobono
authors: Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.
authors: Maira Graeff
authors: MG
authors: Burin
authors: Postgraduate Program in Child and Adolescent Health, UFRGS, Porto Alegre, RS, Brazil. rgiugliani@hcpa.edu.br.|Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil. rgiugliani@hcpa.edu.br.|Department of Genetics, UFRGS, Porto Alegre, RS, Brazil. rgiugliani@hcpa.edu.br.
authors: Roberto
authors: R
authors: Giugliani
keywords: Glycosaminoglycans; Hunter syndrome; Mucopolysaccharidoses; Osteoarticular disease; Selective screening