Literature DB >> 21947256

Newborn screening and renal disease: where we have been; where we are now; where we are going.

J Lawrence Merritt1, David Askenazi, Si Houn Hahn.   

Abstract

Newborn screening (NBS) has rapidly changed since its origins in the 1960s. Beginning with a single condition, then a handful in the 1990 s, NBS has expanded in the past decade to allow the detection of many disorders of amino-acid, organic-acid, and fatty-acid metabolism. These conditions often present with recurrent acute attacks of metabolic acidosis, hypoglycemia, liver failure, and hyperammonemia that may be prevented with initiation of early treatment. Renal disease is an important component of these disorders and is a frequent source of morbidity. Hemodialysis is often required for hyperammonemia in the organic acidemias and urea-cycle disorders. Rhabdomyolysis with renal failure is a frequent complication in fatty-acid oxidation disorders. Newer screening methods are under investigation to detect lysosomal storage diseases, primary immunodeficiencies, and primary renal disorders. These advances will present many challenges to nephrologists and pediatricians with respect to closely monitoring and caring for children with such disorders.

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Year:  2011        PMID: 21947256     DOI: 10.1007/s00467-011-1995-6

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN: 0931-041X            Impact factor:   3.714


  87 in total

1.  Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease.

Authors:  Yijun Li; Knut Brockmann; Frantisek Turecek; C Ronald Scott; Michael H Gelb
Journal:  Clin Chem       Date:  2004-03       Impact factor: 8.327

2.  Comprehensive cost-utility analysis of newborn screening strategies.

Authors:  Aaron E Carroll; Stephen M Downs
Journal:  Pediatrics       Date:  2006-05       Impact factor: 7.124

3.  Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.

Authors:  T H Zytkovicz; E F Fitzgerald; D Marsden; C A Larson; V E Shih; D M Johnson; A W Strauss; A M Comeau; R B Eaton; G F Grady
Journal:  Clin Chem       Date:  2001-11       Impact factor: 8.327

4.  Features of carnitine palmitoyltransferase type I deficiency.

Authors:  S E Olpin; J Allen; J R Bonham; S Clark; P T Clayton; J Calvin; M Downing; K Ives; S Jones; N J Manning; R J Pollitt; S J Standing; M S Tanner
Journal:  J Inherit Metab Dis       Date:  2001-02       Impact factor: 4.982

5.  Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data.

Authors:  A Mehta; M Beck; P Elliott; R Giugliani; A Linhart; G Sunder-Plassmann; R Schiffmann; F Barbey; M Ries; J T R Clarke
Journal:  Lancet       Date:  2009-12-12       Impact factor: 79.321

6.  Increased prevalence of renal and urinary tract anomalies in children with congenital hypothyroidism.

Authors:  Juhi Kumar; Roberto Gordillo; Frederick J Kaskel; Charlotte M Druschel; Robert P Woroniecki
Journal:  J Pediatr       Date:  2008-09-27       Impact factor: 4.406

7.  Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid.

Authors:  Laurent Meeus; Brigitte Gilbert; Catherine Rydlewski; Jasmine Parma; Anne Lienhardt Roussie; Marc Abramowicz; Catheline Vilain; Daniel Christophe; Sabine Costagliola; Gilbert Vassart
Journal:  J Clin Endocrinol Metab       Date:  2004-09       Impact factor: 5.958

8.  Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening.

Authors:  Sabine Illsinger; Thomas Lücke; Michael Peter; Jos P N Ruiter; Ronald J A Wanders; Marcus Deschauer; Ingrid Handig; Wim Wuyts; Anibh M Das
Journal:  Am J Med Genet A       Date:  2008-11-15       Impact factor: 2.802

9.  Mitochondrial fatty acid oxidation defects--remaining challenges.

Authors:  Niels Gregersen; Brage S Andresen; Christina B Pedersen; Rikke K J Olsen; Thomas J Corydon; Peter Bross
Journal:  J Inherit Metab Dis       Date:  2008-10-07       Impact factor: 4.982

Review 10.  Renal dysfunction in cystic fibrosis: is there cause for concern?

Authors:  Natalie Soulsby; Hugh Greville; Kingsley Coulthard; Christopher Doecke
Journal:  Pediatr Pulmonol       Date:  2009-10
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