Article
Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes.
Pediatric radiology - 1 Feb 2006
Hertz-Pannier Lucie, Déchaux Michele, Sinico Martine, Emond Sophie, Cormier-Daire Valerie, Saudubray Jean-Marie, Brunelle Francis, Niaudet Patrick, Seta Nathalie, de Lonlay Pascale
Abstract excerpt
BACKGROUND: There are numerous causes of bilateral hyperechoic kidneys. Congenital disorders of glycosylation (CDGs) are a rapidly growing family of inherited disorders due to defects in the synthesis of the glycans of glycoproteins or other glycoconjugates. OBJECTIVE: To describe renal sonographic abnormalities in CDG type I in infants and children. MATERIAL AND METHODS: A retrospective study of renal US in 12...
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