This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Giugliani, R. Articles by Montagner, L. T. Search for Related Content PubMed PubMed Citation Articles by Giugliani, R. Articles by Montagner, L. T. Social Bookmarking                         What's this?

Inborn Errors of Metabolism

Sensitivity of Screening Tests in High Risk Patients

Department of Biochemistry, Bioscience Institute, Federal University of Rio Grande do Sul, and Medical Genetic Unit, Clinical Hospital of Porto Alegre, 90210, Porto Alegre, RS, Brazil

Carlos S. Dutra-Filho, MD, MSc

Department of Biochemistry, Bioscience Institute, Federal University of Rio Grande do Sul, and Medical Genetic Unit, Clinical Hospital of Porto Alegre, 90210, Porto Alegre, RS, Brazil

Maria L. Barth, MSc

Department of Biochemistry, Bioscience Institute, Federal University of Rio Grande do Sul, and Medical Genetic Unit, Clinical Hospital of Porto Alegre, 90210, Porto Alegre, RS, Brazil

Janice C. Dutra, MSc

Department of Biochemistry, Bioscience Institute, Federal University of Rio Grande do Sul, and Medical Genetic Unit, Clinical Hospital of Porto Alegre, 90210, Porto Alegre, RS, Brazil

Moacir Wajner, MD, PhD

Department of Biochemistry, Bioscience Institute, Federal University of Rio Grande do Sul, and Medical Genetic Unit, Clinical Hospital of Porto Alegre, 90210, Porto Alegre, RS, Brazil

Clovis M. D. Wannmacher, MD, MSc

Department of Biochemistry, Bioscience Institute, Federal University of Rio Grande do Sul, and Medical Genetic Unit, Clinical Hospital of Porto Alegre, 90210, Porto Alegre, RS, Brazil

Lenir T. Montagner, MSc

Department of Biochemistry, Bioscience Institute, Federal University of Rio Grande do Sul, and Medical Genetic Unit, Clinical Hospital of Porto Alegre, 90210, Porto Alegre, RS, Brazil

We estimated the sensitivity of a screening procedure (SP) for inborn errors of metabolism (IEM) in 566 referred, high-risk patients. The 143 (25.3% of the total sample) patients with initial abnormal results in at least one screening test (ST) were recalled for further investigations. An IEM was diagnosed in 40.6 percent of the 106 patients who came for reevaluation. In 114 of the remaining 423 patients who had normal initial ST, an IEM was still suspected on basis of clinical, radiological, and/or laboratory findings and was confirmed in 30 of such patients (5.3% of the total sample and 7.1% of the patients with normal results in the SP).

The sensitivity of the SP was estimated maximally as 67.4 percent and the efficiency as 80.4 percent. Twenty-five of the 30 cases undetected with the SP were patients with sphingolipidoses. The simple inclusion of thin-layer chromatography of urinary oligosaccharides in the SP should allow the detection of at least one half of these cases, increasing its sensitivity by 14.1 percent and its efficiency by 4.6 percent. In at least 7.1 percent of patients with an initial normal ST, an IEM was detected. These would have remained undiagnosed if the limitations of the SP employed had not been fully understood.

Clinical Pediatrics, Vol. 28, No. 11, 494-497 (1989)
DOI: 10.1177/000992288902801101


CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter    What's this?