Literature DB >> 2701867

Proteinuria in a child with sialidosis: case report and histological studies.

C E Kashtan1, T E Nevins, Z Posalaky, R L Vernier, A J Fish.   

Abstract

A 9-year-old body with sialidosis had nephrotic-range proteinuria. Histological studies demonstrated massive distension of renal cells, particularly glomerular visceral epithelial cells, by cytoplasmic vesicles which contained material reactive with concanavalin A and wheat-germ agglutinin. In addition, some glomeruli exhibited segmental mesangial thickening or glomerulosclerosis. Ultrastructurally, focal detachment of visceral epithelial cells from the underlying glomerular basement membrane was observed. We postulate that glomerular visceral epithelial cell dysfunction may underlie the proteinuria and focal glomerulosclerosis exhibited by this patient. Hyperfiltration, as suggested by the child's elevated creatinine clearances, may be a contributing factor.

Entities:  

Mesh：

Substances：

Year:  1989        PMID： 2701867     DOI： 10.1007/BF00852901

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


  46 in total

1.  Structure of nine sialyl-oligosaccharides accumulated in urine of eleven patients with three different types of sialidosis. Mucolipidosis II and two new types of mucolipidosis.

Authors:  G Strecker; M C Peers; J C Michalski; T Hondi-Assah; B Fournet; G Spik; J Montreuil; J P Farriaux; P Maroteaux; P Durand
Journal:  Eur J Biochem       Date:  1977-05-16

2.  Early renal changes in hemizygous and heterozygous patients with Fabry's disease.

Authors:  M C Gubler; G Lenoir; J P Grünfeld; A Ulmann; D Droz; R Habib
Journal:  Kidney Int       Date:  1978-03       Impact factor: 10.612

3.  Identification of a major sialoprotein in the glycocalyx of human visceral glomerular epithelial cells.

Authors:  D Kerjaschki; H Poczewski; G Dekan; R Horvat; E Balzar; N Kraft; R C Atkins
Journal:  J Clin Invest       Date:  1986-11       Impact factor: 14.808

4.  An ultrastructural study of the mechanisms of proteinuria in aminonucleoside nephrosis.

Authors:  G B Ryan; M J Karnovsky
Journal:  Kidney Int       Date:  1975-10       Impact factor: 10.612

5.  Isolation and structural characterization of sialic acid-containing storage material from mucolipidosis I (sialidosis) fibroblasts.

Authors:  J van Pelt; J P Kamerling; J F Vliegenthart; F W Verheijen; H Galjaard
Journal:  Biochim Biophys Acta       Date:  1988-04-14

6.  Retardation of fading and enhancement of intensity of immunofluorescence by p-phenylenediamine.

Authors:  J L Platt; A F Michael
Journal:  J Histochem Cytochem       Date:  1983-06       Impact factor: 2.479

7.  Altered glomerular permeability as a result of focal detachment of the visceral epithelium.

Authors:  Y S Kanwar; L J Rosenzweig
Journal:  Kidney Int       Date:  1982-04       Impact factor: 10.612

8.  Congenital ascites as a presenting sign of lysosomal storage disease.

Authors:  J E Gillan; J A Lowden; K Gaskin; E Cutz
Journal:  J Pediatr       Date:  1984-02       Impact factor: 4.406

9.  Pathological study on a severe sialidosis (alpha-neuraminidase deficiency).

Authors:  T Yamano; M Shimada; K Matsuzaki; Y Matsumoto; W Yoshihara; S Okada; K Inui; T Yutaka; H Yabuuchi
Journal:  Acta Neuropathol       Date:  1986       Impact factor: 17.088

10.  Immunofluorescence studies of dense deposit disease. The presence of railroad tracks and mesangial rings.

Authors:  Y Kim; R L Vernier; A J Fish; A F Michael
Journal:  Lab Invest       Date:  1979-04       Impact factor: 5.662
View more
  7 in total

1.  Storage material from urine and tissues in the nephropathic phenotype of infantile sialic acid storage disease.

Authors:  E Paschke; W Gruber; E Ring; W Sperl
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

Review 2.  Emerging role of autophagy in kidney function, diseases and aging.

Authors:  Tobias B Huber; Charles L Edelstein; Björn Hartleben; Ken Inoki; Man Jiang; Daisuke Koya; Shinji Kume; Wilfred Lieberthal; Nicolas Pallet; Alejandro Quiroga; Kameswaran Ravichandran; Katalin Susztak; Sei Yoshida; Zheng Dong
Journal:  Autophagy       Date:  2012-06-13       Impact factor: 16.016

3.  Nephrosis in two siblings with infantile sialic acid storage disease.

Authors:  W Sperl; W Gruber; J Quatacker; L Monnens; W Thoenes; F M Fink; E Paschke
Journal:  Eur J Pediatr       Date:  1990-04       Impact factor: 3.183

4.  Nephrosialidosis: ultrastructural and lectin histochemical study.

Authors:  K Toyooka; H Fujimura; H Yoshikawa; M Taniike; K Inui; S Yorifuji; S Tarui; S Okada; T Yanagihara
Journal:  Acta Neuropathol       Date:  1993       Impact factor: 17.088

5.  A Case of Type 2 Sialidosis With Deletion of a Single Nucleotide at Position c.947 of the Neuraminidase 1 (NEU1) Gene.

Authors:  Moath Hassan; Mohammed A Alharbi; Reem Y Alhassani; Arwa A Hussain; Ramziyyah Y Kamfar
Journal:  Cureus       Date:  2021-12-13

Review 6.  Progressive myoclonic epilepsy.

Authors:  Mary L Zupanc; Benjamin Legros
Journal:  Cerebellum       Date:  2004       Impact factor: 3.648

7.  Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child.

Authors:  Reza Maroofian; Isabel Schuele; Maryam Najafi; Zeineb Bakey; Abolfazl Rad; Dinu Antony; Haleh Habibi; Miriam Schmidts
Journal:  Kidney Int Rep       Date:  2018-07-29
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.