Patient at 8 months of age with hepatosplenomegaly, dystrophy, severe psychomotor retardation, a peculiar face with prominent philtrum, flat broadened nasal bridge, blond sparse hair (Sperl W et al. Europ J Pediat 149: 477-482, 1990)
【検査】白血球 alpha-(2-6) neuraminidase 障害
Maroteaux ら(1978) proposed this term for a type of oligosaccharidosis in which a glomerular nephropathy develops early and causes death at a young age. The clinical and radiologic features are dysmorphic facies, visceral storage disease, early and severe mental retardation, and skeletal abnormalities of a type often seen in this group of diseases. Foam cells are found in the bone marrow and, late in the illness, a cherry red spot is present on funduscopy. The condition is inherited as an autosomal recessive. The leukocytes are deficient in alpha-(2-6) neuraminidase, a defect found also in the sialidoses (256550) and in galactosialidosis (256540), which have clinical differences. Aylsworth ら(1979) observed a case of nephrosialidosis. Congenital ascites, early-onset pericardial effusion, nephrosis, and greater overall severity of clinical features distinguished the disorder from other forms of neuraminidase deficiency. Roth ら(1988) gave follow-up on a patient reported by Kelly and Graetz (1977) to have isolated acid neuraminidase deficiency with the phenotype of type 2 infantile sialidosis. An unusual feature was the abrupt onset and fulminant course of the nephrotic syndrome from which she died at the age of 9 years and 8 months. The kidneys showed epithelial cell damage most marked in the glomeruli and proximal tubules, with stored material in the form of polar sialyloligosaccharides of high molecular weight. Nephrosis was reported by Sperl ら(1990) in a brother and sister with infantile sialic acid storage disease (269920). Nephrosis has also been described in the Hurler syndrome (252800) (Taylor et al., 1986) but this must be a rare complication of that particular lysosomal storage disease.
It is by no means clear that nephrosialidosis is due to a mutation at a different locus from that represented by entry 256550.
(1) Kelly T, Graetz G. Isolated acid neuraminidase deficiency: a distinct lysosomal storage disease. Am J Med Genet 1: 31-46, 1977
(2) LeSee G et al. Un nouveau type de sialidose avec atteinte renale: la nephrosialidose. II. Etude anatomique. Arch Franc Pediat 35: 830-844, 1978
(3) Maroteaux P: Les sialidoses par deficit en alpha-(2-6) neuraminidase: un groupe heterogene. Arch Franc Pediat 35: 815-818, 1978
(4) Maroteaux P: Un nouveau type de sialidose avec atteinte renale: la nephrosialidose. I. Etude clinique, radiologique et nosologique. Arch Franc Pediat 35: 819-829, 1978
(5) Aylsworth AS et al. The severe infantile form of neuraminidase deficiency. Am J Hum Genet 31: 68A, 1979
(6) Taylor J et al. Nephrotic syndrome and hypertension in two children with Hurler syndrome. J Pediat 108: 726-729, 1986
(7) Roth KS et al. Acid alpha-neuraminidase deficiency: a nephropathic phenotype?. Clin Genet 34: 185-194, 1988
(8) Sperl W et al. Nephrosis in two siblings with infantile sialic acid storage disease. Europ J Pediat 149: 477-482, 1990