Nephrosis in two siblings with infantile sialic acid storage disease

Sperl, Wolfgang; Gruber, Wilfried; Quatacker, J.; Monnens, L.A.H.; Thoenes, W.; Fink, Franz‐Martin; Paschke, Eduard

doi:10.1007/bf01959399

Cited by 33 publications

(17 citation statements)

References 26 publications

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“…In our review, 13 of 21 cases [Clements et al, 1988;Gillan et al, 1984;Hale et al, 1995;Poulain et al, 1995;Pueschel et al, 1988;Schleutker et al, 1995;Sewell et al, 1996;Sperl et al, 1990;Towner et al, 1993] were manifested this way with ascites (10 in 13) being more frequent than hydrops (3 in 13). Primary involvement of the reticuloendothelial system in ISSD may contribute to the formation of ascites that may progress to hydrops fetalis in more severe cases.…”

Section: Discussionmentioning

confidence: 86%

“…Including our patient, four ISSD cases with nephrotic syndrome have been reported [Pueschel et al, 1988;Sperl et al, 1990]. Renal evaluation was available in only seven subjects.…”

Section: Discussionmentioning

confidence: 92%

“…The epithelial (curved arrow) as well as mesangial (straight arrow) cell cytoplasm is filled by numerous vacuoles containing fine reticulogranular, occasionally laminated material (uranyl lead; magnification, ×2,500). Paschke et al, 1986;Poulain et al, 1995;Pueschel et al, 1988;Schleutker et al, 1995;Sewell et al, 1996;Sperl et al, 1990;Stevenson et al, 1983;Towner et al, 1993]. Unfortunately, the clinical findings of 10 of them are poorly described.…”

Section: Discussionmentioning

confidence: 92%

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Clinical spectrum of infantile free sialic acid storage disease

et al. 1999

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Infantile free sialic acid storage disease (ISSD) is a rare autosomal recessive metabolic disorder caused by a lysosomal membrane transport defect, resulting in accumulation of free sialic acid within lysosomes. Only a few cases have been described. We report on three new cases of ISSD with different modes of presentation: an infant with nephrotic syndrome, a case of fetal and neonatal ascites with heart failure, and a case of fetal ascites with esophageal atresia type III. From these patients and a review of the literature (27 cases total) we draw the following conclusions. 1) ''Coarse facies,'' fair complexion, hepatosplenomegaly, and severe psychomotor retardation are constant findings in this disorder. 2) Nephrotic syndrome occurred in most cases (four in seven) in which renal evaluation was performed. Therefore, ISSD is an important cause of nephrosis in infants with a storage disorder phenotype. 3) Fetal/neonatal ascites or hydrops was the mode of presentation in 13 (60%) of 21 cases. Thus, ISSD enters in the differential diagnosis of hydrops fetalis with a storage disease phenotype. 4) Cardiomegaly was evident in nine cases. 5) Corneae were always clear, and albinoid fundi were reported in five cases. 6) Dysostosis multiplex was not prominent. 7) Bone marrow aspiration could be negative. 8) Death ensued in early infancy with a mean age of 13.1 months. All reported deaths were caused by respiratory infections. Am. J. Med. Genet. 82:385-391, 1999.

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Section: Discussionmentioning

confidence: 86%

“…Including our patient, four ISSD cases with nephrotic syndrome have been reported [Pueschel et al, 1988;Sperl et al, 1990]. Renal evaluation was available in only seven subjects.…”

Section: Discussionmentioning

confidence: 92%

Section: Discussionmentioning

confidence: 92%

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Clinical spectrum of infantile free sialic acid storage disease

et al. 1999

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“…They must be distinguished from other forms of sialuria without lysosomal storage (1). The two main phenotypes of lysosomal sialic acid storage are the "Finnish" Salla disease, presenting with mental retardation ofearly onset, ataxia, and near-normal life span (2,3), and an infantile form without any ethnical prevalence, presenting severe visceral involvement, dysostosis multiplex, psychomotor retardation, and early death (4)(5)(6)(7)(8)(9)(10). In addition, some patients have been described with intermediate phenotypes between these two extremes (II1-15).…”

Section: Introductionmentioning

confidence: 99%

Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides.

Mancini¹,

Beerens²,

Aula³

et al. 1991

J. Clin. Invest.

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A defective efflux of free sialic acid from the lysosomal compartment has been found in the clinically heterogeneous group of sialic acid storage disorders. Using radiolabeled sialic acid (NeuAc) as a substrate, we have recently detected and characterized a proton-driven carrier for sialic acid in the lysosomal membrane from rat liver. This carrier also recognizes and transports other acidic monosaccharides, among which are uronic acids. If no alternative routes of glucuronic acid transport exist, the disposal of uronic acids can be affected in the sialic acid storage disorders. In this study we excluded the existence of more than one acidic monosaccharide carrier by measuring up-

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“…As to renal disorders in lysosomal free sialic acid storage diseases, Sperl et al (1990) reported two Austrian ISSD siblings who developed steroid-resistant congenital nephrosis, which had been thought to be an unusual presentation of ISSD. However, Lemyre et al (1999) showed that a nephrotic syndrome occurred in four of seven ISSD patients in whom renal evaluation was performed, and ISSD seems to be an important cause of nephrosis in infants with a storage disorder phenotype.…”

Section: Introductionmentioning

confidence: 99%

Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorder

et al. 2004

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We report the first Japanese case of Salla disease. A 5-year-old male patient developed unique proteinuria with other clinical manifestations, including coarse facies, dysostosis multiplex, mild mitral valve regurgitation, umbilical and inguinal herniation, and mild developmental delay. Pathological analysis of biopsied kidney tissues showed marked vacuolation of podocytes, mesangial cells, capillary endothelial cells, and tubular cells. Biochemical studies involving thinlayer chromatography and mass spectrometry revealed increased excretion of free sialic acid (N-acetylneuraminic acid) into the patient's urine. Immuno-and lectin staining of the patient's cells demonstrated the accumulation of sialyl and asialyl glycoconjugates in lysosomes and late endosomes. A defect in sialyl glycoconjugate metabolism is thought to have occurred in the patient's cells, besides impairment of the lysosomal transport of free sialic acid residues. A renal disorder should be considered as an important manifestation, not only in infantile free sialic acid storage disease but also in Salla disease.

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Nephrosis in two siblings with infantile sialic acid storage disease

Cited by 33 publications

References 26 publications

Clinical spectrum of infantile free sialic acid storage disease

Clinical spectrum of infantile free sialic acid storage disease

Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides.

Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorder

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