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Congenital nephrotic syndrome: A novel phenotype of type I carbohydrate‐deficient glycoprotein syndrome
Author(s) -
der Knaap M. S.,
Wevers R. A.,
Monnens L.,
Jakobs C.,
Jaeken J.,
Wijk J. A. E.
Publication year - 1996
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799174
Subject(s) - nephrotic syndrome , congenital nephrotic syndrome , medicine , transferrin , atrophy , glomerulonephritis , pathology , endocrinology , kidney , proteinuria
Summary Type I carbohydrate‐deficient glycoprotein (CDG) syndrome is a genetic multisystem disorder generally without overt renal problems. We report a neonate with neurological abnormalities and congenital nephrotic syndrome of diffuse mesangial sclerosis type. Serum transferrin isoelectric focusing showed the typical abnormalities of type I CDG syndrome. Normal transferrin focusing findings in other patients with similar renal problems excluded the possibility of a secondary biochemical phenomenon. The diagnosis of type I CDG syndrome was confirmed by demonstration of a deficiency of phosphomannomutase. No evidence of pontocerebellar atrophy was found in imaging or at autopsy. We conclude that congenital nephrotic syndrome may occur in type I CDG syndrome, and that this diagnosis should be considered in patients with congenital nephrotic syndrome. Absence of pontocerebellar atrophy does not exclude the diagnosis of type I CDG syndrome.