title: Acid alpha-neuraminidase deficiency: a nephropathic phenotype?
abstract: Isolated neuraminidase deficiency is a member of the relatively rare group of storage disorders known as glycoproteinoses. We report the long-term natural history of the disease in one of the first patients described in the literature. An unusual feature of the disease is the abrupt onset and fulminant nature of the nephrotic syndrome, complications of which caused the demise of our patient. Pathological examination of the kidneys from this child revealed renal epithelial cell damage, most marked in the membranes of the glomeruli and proximal tubules, findings which are consistent with the high sialic acid content of the membrane in these areas of the nephron. Chemical analysis indicated that the bulk of the stored material in the kidney was in the form of polar sialyloligosaccharides of high molecular weight. On the basis of our experience, as well as the previous reports of neuraminidase-deficient patients with nephropathy, we propose a nephropathic phenotypic variant of type 2 infantile sialidosis.
authors.affiliation: Department of Pediatrics, Medical College of Virginia, Richmond.
authors.forename: K S
authors.initials: KS
authors.lastname: Roth
authors.forename: J C
authors.initials: JC
authors.lastname: Chan
authors.forename: N R
authors.initials: NR
authors.lastname: Ghatak
authors.forename: P
authors.initials: P
authors.lastname: Mamunes
authors.forename: W W
authors.initials: WW
authors.lastname: Miller
authors.forename: J S
authors.initials: JS
authors.lastname: O'Brien
mesh_terms: D001921:Brain / Q000473:pathology; D002648:Child; D005260:Female; D006801:Humans; D007668:Kidney / Q000648:ultrastructure; D007674:Kidney Diseases / Q000235:genetics* / Q000473:pathology; D009439:Neuraminidase / Q000172:deficiency* / Q000235:genetics; D010641:Phenotype
chemical_list: D009439:Neuraminidase