Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil.

Autor: Bravo H; Post-Graduate Program of Genetics and Molecular Biology, UFRGS, Av. Bento Gonçalves 9500, 91501-970 Porto Alegre, RS, Brazil., Neto EC; CTN Diagnósticos, Av. Ipiranga 5000, Porto Alegre, RS 90610-000, Brazil., Schulte J; CTN Diagnósticos, Av. Ipiranga 5000, Porto Alegre, RS 90610-000, Brazil., Pereira J; CTN Diagnósticos, Av. Ipiranga 5000, Porto Alegre, RS 90610-000, Brazil., Filho CS; Intercientifica, Av. Ouro Fino, São José dos Campos, SP 12233-401, Brazil., Bittencourt F; Medical Genetics Service, HCPA, Rua Ramiro Barcelos 2350, Porto Alegre, RS 90035-903, Brazil., Sebastião F; Medical Genetics Service, HCPA, Rua Ramiro Barcelos 2350, Porto Alegre, RS 90035-903, Brazil., Bender F; Medical Genetics Service, HCPA, Rua Ramiro Barcelos 2350, Porto Alegre, RS 90035-903, Brazil., de Magalhães APS; Medical Genetics Service, HCPA, Rua Ramiro Barcelos 2350, Porto Alegre, RS 90035-903, Brazil., Guidobono R; Medical Genetics Service, HCPA, Rua Ramiro Barcelos 2350, Porto Alegre, RS 90035-903, Brazil., Trapp FB; Medical Genetics Service, HCPA, Rua Ramiro Barcelos 2350, Porto Alegre, RS 90035-903, Brazil., Michelin-Tirelli K; Medical Genetics Service, HCPA, Rua Ramiro Barcelos 2350, Porto Alegre, RS 90035-903, Brazil., Souza CFM; Medical Genetics Service, HCPA, Rua Ramiro Barcelos 2350, Porto Alegre, RS 90035-903, Brazil., Rojas Málaga D; Post-Graduate Program of Genetics and Molecular Biology, UFRGS, Av. Bento Gonçalves 9500, 91501-970 Porto Alegre, RS, Brazil., Pasqualim G; Post-Graduate Program of Genetics and Molecular Biology, UFRGS, Av. Bento Gonçalves 9500, 91501-970 Porto Alegre, RS, Brazil.; Gene Therapy Center, Experimental Research Center, HCPA, Rua Ramiro Barcelos 2350, Porto Alegre, RS 90035-903, Brazil., Brusius-Facchin AC; Medical Genetics Service, HCPA, Rua Ramiro Barcelos 2350, Porto Alegre, RS 90035-903, Brazil., Giugliani R; Post-Graduate Program of Genetics and Molecular Biology, UFRGS, Av. Bento Gonçalves 9500, 91501-970 Porto Alegre, RS, Brazil.; Medical Genetics Service, HCPA, Rua Ramiro Barcelos 2350, Porto Alegre, RS 90035-903, Brazil.; Post-Graduate Program in Medical Sciences, UFRGS, Rua Ramiro Barcelos 2400, 90035-003 Porto Alegre, RS, Brazil.; Gene Therapy Center, Experimental Research Center, HCPA, Rua Ramiro Barcelos 2350, Porto Alegre, RS 90035-903, Brazil.
Jazyk: angličtina
Zdroj: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2017 Jul 04; Vol. 12, pp. 92-97. Date of Electronic Publication: 2017 Jul 04 (Print Publication: 2017).
DOI: 10.1016/j.ymgmr.2017.06.006
Abstrakt: Lysosomal storage diseases (LSDs) are genetic disorders, clinically heterogeneous, mainly caused by defects in genes encoding lysosomal enzymes that degrade macromolecules. Several LSDs already have specific therapies that may improve clinical outcomes, especially if introduced early in life. With this aim, screening methods have been established and newborn screening (NBS) for some LSDs has been developed. Such programs should include additional procedures for the confirmation (or not) of the cases that had an abnormal result in the initial screening. We present here the methods and results of the additional investigation performed in four babies with positive initial screening results in a program of NBS for LSDs performed by a private laboratory in over 10,000 newborns in Brazil. The suspicion in these cases was of Mucopolysaccharidosis I - MPS I (in two babies), Pompe disease and Gaucher disease (one baby each). One case of pseudodeficiency for MPS I, 1 carrier for MPS I, 1 case of pseudodeficiency for Pompe disease and 1 carrier for Gaucher disease were identified. This report illustrates the challenges that may be encountered by NBS programs for LSDs, and the need of a comprehensive protocol for the rapid and precise investigation of the babies who have an abnormal screening result.
Databáze: MEDLINE
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