Evaluation of the proximal tubular function in hereditary renal Fanconi syndrome
نویسندگان
چکیده
منابع مشابه
Evaluation of the proximal tubular function in hereditary renal Fanconi syndrome.
The study of the proximal tubular function in inherited renal Fanconi syndrome offers a unique opportunity to augment insights in proximal tubular transport and signalling pathways and allows a better interpretation of tests applied for the evaluation of proximal tubular function in acquired disorders. The causes of inherited and acquired renal Fanconi syndrome are listed in Table 1. It is a co...
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Renal Fanconi syndrome (RFS) refers to the generalized dysfunction of the proximal tubule (PT) (Kleta R. Fanconi or not Fanconi? Lowe syndrome revisited. Clin J Am Soc Nephrol 2008; 3: 1244-1245). In its isolated form, RFS only affects the PT, but not the other nephron segments. The study of isolated RFS can thus provide specific insights into the function of the PT. In a recent paper, Klootwij...
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BACKGROUND AND OBJECTIVES Lowe syndrome is defined by congenital cataracts, mental retardation, and proximal tubulopathy and is due to mutations in OCRL. Recently, mutations in OCRL were found to underlie some patients with Dent disease, characterized by low molecular weight proteinuria, hypercalciuria, and nephrocalcinosis. This phenotypic heterogeneity is poorly understood. DESIGN, SETTING,...
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A number of therapeutic drugs are toxic to the kidney proximal tubule (PT) and can cause the renal Fanconi syndrome (FS). The most frequently implicated drugs are cisplatin, ifosfamide, tenofovir, sodium valproate and aminoglycoside antibiotics, and the new oral iron chelator deferasirox has also recently been associated with FS. The incidence of full or partial FS is almost certainly under-est...
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ژورنال
عنوان ژورنال: Nephrology Dialysis Transplantation
سال: 2008
ISSN: 0931-0509,1460-2385
DOI: 10.1093/ndt/gfn373