Your browser doesn't support javascript.
loading
False positive screen test for mucopolysaccharidoses in healthy female newborns.
Monachesi, Chiara; Zampini, Lucia; Padella, Lucia; Marchesiello, Rita Lucia; Galeazzi, Tiziana; Santoro, Lucia; Catassi, Carlo; Gasparrini, Enrico; Carnielli, Virgilio Paolo; Volpi, Nicola; Fiumara, Agata; Concolino, Daniela; Tomanin, Rosella; Coppa, Giovanni Valentino; Gabrielli, Orazio.
Afiliação
  • Monachesi C; Department of Clinical Sciences, Division of Pediatrics, Polytechnic University of Marche, Ospedali Riuniti, Presidio Salesi, Ancona, Italy.
  • Zampini L; Department of Clinical Sciences, Division of Pediatrics, Polytechnic University of Marche, Ospedali Riuniti, Presidio Salesi, Ancona, Italy.
  • Padella L; Department of Clinical Sciences, Division of Pediatrics, Polytechnic University of Marche, Ospedali Riuniti, Presidio Salesi, Ancona, Italy.
  • Marchesiello RL; Department of Clinical Sciences, Division of Pediatrics, Polytechnic University of Marche, Ospedali Riuniti, Presidio Salesi, Ancona, Italy.
  • Galeazzi T; Department of Clinical Sciences, Division of Pediatrics, Polytechnic University of Marche, Ospedali Riuniti, Presidio Salesi, Ancona, Italy.
  • Santoro L; Department of Clinical Sciences, Division of Pediatrics, Polytechnic University of Marche, Ospedali Riuniti, Presidio Salesi, Ancona, Italy.
  • Catassi C; Department of Clinical Sciences, Division of Pediatrics, Polytechnic University of Marche, Ospedali Riuniti, Presidio Salesi, Ancona, Italy.
  • Gasparrini E; Division of Pediatrics and Neonatology, Ospedale di Macerata, Italy.
  • Carnielli VP; Department of Clinical Sciences, Division of Neonatology, Polytechnic University of Marche, Ospedali Riuniti, Presidio Salesi, Ancona, Italy.
  • Volpi N; Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy.
  • Fiumara A; Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
  • Concolino D; Department of Paediatrics, University of Catanzaro, Catanzaro, Italy.
  • Tomanin R; Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Dept. of Women's and Children's Health, University of Padova, Italy.
  • Coppa GV; Department of Clinical Sciences, Division of Pediatrics, Polytechnic University of Marche, Ospedali Riuniti, Presidio Salesi, Ancona, Italy.
  • Gabrielli O; Department of Clinical Sciences, Division of Pediatrics, Polytechnic University of Marche, Ospedali Riuniti, Presidio Salesi, Ancona, Italy. Electronic address: o.gabrielli@mercurio.it.
Clin Chim Acta ; 486: 221-223, 2018 Nov.
Article em En | MEDLINE | ID: mdl-30110607
BACKGROUND: In total, 930 urine samples obtained on 2nd and 3rd day from birth have been analyzed for the early diagnosis of Mucopolysaccharidoses. METHODS: Dimethylmethylene blue (DMB) assay and one-dimensional electrophoresis were performed in all urine samples. Agarose gel electrophoresis, before and after treatment with chondroitinase ABC and heparinases, was used for a comprehensive characterization. RESULTS: Out of 930 urine samples 7 showed anomalous electrophoretic pattern; 5 of them had high GAG levels by DMB test. Atypical samples (n = 7) were analyzed by agarose gel electrophoresis. After enzymatic digestion, some slow bands were still visible. A second urine sample of the above 7 newborns was analyzed at the age of 1 month, demonstrating both a normal pattern and normal GAG levels. Additional urine and vaginal mucus samples from 10 term neonates with vaginal bleeding showed the same electrophoretic pattern observed in the 7 false positive samples. CONCLUSIONS: The altered electrophoretic pattern may be due to the presence of glycoproteins and not to specific GAGs, due to high levels of maternal hormones exposure during pregnancy. To our knowledge, this is the first time maternal estrogen hormones are proposed as a likely cause of false-positive urinary glycosaminoglycan screen test in healthy newborns.
Assuntos
Palavras-chave

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mucopolissacaridoses Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Female / Humans / Male / Newborn Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mucopolissacaridoses Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Female / Humans / Male / Newborn Idioma: En Ano de publicação: 2018 Tipo de documento: Article