Preferred Label : Nephrosialidosis;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Maroteaux et al. (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 et al. (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 et al. (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 et al. (1990) in a brother and sister
with infantile sialic acid storage disease (269920). Nephrosis has also been described
in the Hurler syndrome (607014) (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. *FIELD*
SA LeSec et al. (1978); Maroteaux (1978) *FIELD* RF 1. Aylsworth, A. S.; Thomas,
G. H.; Hood, J. L.: The severe infantile form of neuraminidase deficiency. Am. J.
Hum. Genet. 31: 68A only, 1979. 2. Kelly, T.; Graetz, G.: Isolated acid neuraminidase
deficiency: a distinct lysosomal storage disease. Am. J. Med. Genet. 1: 31-46, 1977.
3. LeSec, G.; Stanescu, R.; Lyon, G.: Un nouveau type de sialidose avec atteinte renale:
la nephrosialidose. II. Etude anatomique. Arch. Franc. Pediat. 35: 830-844, 1978.
4. Maroteaux, P.: Les sialidoses par deficit en alpha-(2-6) neuraminidase: un groupe
heterogene. Arch. Franc. Pediat. 35: 815-818, 1978. 5. Maroteaux, P.; Humbel, R.;
Strecker, G.; Michalski, J.-C.; Mande, R.: Un nouveau type de sialidose avec atteinte
renale: la nephrosialidose. I. Etude clinique, radiologique et nosologique. Arch.
Franc. Pediat. 35: 819-829, 1978. 6. Roth, K. S.; Chan, J. C.; Ghatak, N. R.; Mamunes,
P.; Miller, W. W.; O'Brien, J. S.: Acid alpha-neuraminidase deficiency: a nephropathic
phenotype? Clin. Genet. 34: 185-194, 1988. 7. Sperl, W.; Gruber, W.; Quatacker, J.;
Monnens, L.; Thoenes, W.; Fink, F. M.; Paschke, E.: Nephrosis in two siblings with
infantile sialic acid storage disease. Europ. J. Pediat. 149: 477-482, 1990. 8. Taylor,
J.; Thorner, P.; Geary, D. F.; Baumal, R.; Balfe, W.: Nephrotic syndrome and hypertension
in two children with Hurler syndrome. J. Pediat. 108: 726-729, 1986. *FIELD* CS GU:
Childhood glomerular nephropathy; Nephrosis; Renal failure;
Inheritance : Autosomal recessive; ? neuraminidase deficiency (256550);
Prefixed ID : 256150;
Origin ID : 256150;
UMLS CUI : C0268232;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
