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

作者：Merritt J Lawrence II; Askenazi David; Hahn Si Houn^*

来源：Pediatric Nephrology, 2012, 27(9): 1453-1464.

DOI：10.1007/s00467-011-1995-6

• Newborn screening
• Inborn errors of metabolism
• History
• Ethics
• Tandem mass spectrometry
• Nephrology
• Renal disease

Newborn screening (NBS) has rapidly changed since its origins in the 1960s. Beginning with a single condition, then a handful in the 1990s, 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.

• 出版日期2012-9