The adult presenting idiopathic fanconi syndrome

1981 ◽  
Vol 4 (1) ◽  
pp. 211-215 ◽  
Author(s):  
D. P. Brenton ◽  
D. A. Isenberg ◽  
D. C. Cusworth ◽  
P. Garrod ◽  
S. Krywawych ◽  
...  
1989 ◽  
Vol 35 (11) ◽  
pp. 2231-2233 ◽  
Author(s):  
N M Papadopoulos ◽  
R Costello ◽  
L Charnas ◽  
M D Adamson ◽  
W A Gahl

Abstract Urine samples from 26 patients with five different causes of renal tubular Fanconi syndrome were examined by zone electrophoresis on agarose gel and immunofixation. The tubular disorders associated with Lowe's syndrome, cystinosis, and idiopathic Fanconi syndrome exhibited urine protein electrophoretic characteristics that differentiated them from normal and from each other. In particular, Lowe's syndrome urine exhibited four discrete bands in the gamma globulin zone. Electrophoresis of urinary proteins may be useful in distinguishing among the different metabolic disorders causing renal tubular Fanconi syndrome.


1979 ◽  
Vol 131 (4) ◽  
pp. 247-254 ◽  
Author(s):  
K. Kruse ◽  
H. Bartels

2002 ◽  
Vol 13 (1) ◽  
pp. 125-133
Author(s):  
Anthony G. W. Norden ◽  
Marta Lapsley ◽  
Takashi Igarashi ◽  
Catherine L. Kelleher ◽  
Philip J. Lee ◽  
...  

ABSTRACT. Normal reabsorption of glomerular filtrate proteins probably requires recycling of the endocytic receptors megalin (gp330) and cubilin. Both receptors are located on the luminal surface of the renal proximal tubule epithelium. Whether abnormal amounts of receptor are present in the urine of patients with Dent’s disease, Lowe’s syndrome, or autosomal dominant idiopathic Fanconi syndrome was explored. They are all forms of the renal Fanconi syndrome and are associated with tubular proteinuria. Urine samples of equal creatinine contents were dialyzed, lyophilized, and subjected to electrophoresis on nonreducing sodium dodecyl sulfate-5% polyacrylamide gels. Proteins were blotted and probed with anti-megalin IgG, anti-cubilin IgG, or receptor-associated protein. Megalin and cubilin levels detected by immunochemiluminescence were measured as integrated pixels and expressed as percentages of the normal mean values. A striking deficiency of urinary megalin, compared with normal individuals (n = 42), was observed for eight of nine families with Dent’s disease (n = 10) and for the two families with Lowe’s syndrome (n = 3). The family with autosomal dominant idiopathic Fanconi syndrome (n = 2) exhibited megalin levels within the normal range. The measured levels of cubilin were normal for all patients. These results are consistent with defective recycling of megalin to the apical cell surface of the proximal tubules and thus decreased loss into urine in Dent’s disease and Lowe’s syndrome. This defect would interfere with the normal endocytic function of megalin, result in losses of potential ligands into the urine, and produce tubular proteinuria.


Kidney ◽  
2009 ◽  
Vol 18 (3) ◽  
pp. 121-124
Author(s):  
Sónia Fernandes Garcês ◽  
Vanessa Mendonça ◽  
Rute Vaz ◽  
Teresa Campos ◽  
Eunice Trindade ◽  
...  

2017 ◽  
Vol 6 (1) ◽  
pp. 85-87
Author(s):  
Takayuki Okamoto ◽  
Yasuyuki Sato ◽  
Takeshi Yamazaki ◽  
Asako Hayashi ◽  
Toshiyuki Takahashi

1984 ◽  
Vol 33 (1) ◽  
pp. 267-270
Author(s):  
Yukihiro Kai ◽  
Yoshihira Fukuoka ◽  
Takao Hotokebuchi ◽  
Seiya Jingushi ◽  
Naotaka Ibi ◽  
...  

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