Klootwijk, Enriko D. and Reichold, Markus and Unwin, Robert J. and Kleta, Robert and Warth, Richard and Bockenhauer, Detlef (2015) Renal Fanconi syndrome: taking a proximal look at the nephron. NEPHROLOGY DIALYSIS TRANSPLANTATION, 30 (9). pp. 1456-1460. ISSN 0931-0509, 1460-2385
Full text not available from this repository. (Request a copy)Abstract
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, Klootwijk et al. investigated one such form of isolated RFS and revealed the underlying molecular basis (Klootwijk ED, Reichold M, Helip-Wooley A et al. Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. N Engl J Med 2014; 370: 129-138). The affected family had been described previously, demonstrating the typical features of RFS, such as low-molecular weight proteinuria, aminoaciduria, glycosuria and phosphaturia with consequent rickets; yet, importantly, patients had no evidence of impaired glomerular filtration (Tolaymat A, Sakarcan A, Neiberger R. Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects. J Am Soc Nephrol 1992; 2: 1310-1317). Inheritance was consistent with an autosomal dominant mode. Klootwijk et al. discovered a surprising explanation: a heterozygous missense mutation causing partial mistargeting of the peroxisomal enzyme EHHADH to the mitochondria. Notably, disease causing was not the absence of the enzyme in the peroxisome, but its interference with mitochondrial function. The discovery of this novel disease mechanism not only confirmed the importance of mitochondrial function for PT transport, but also demonstrated the critical dependence of PT on fatty acid metabolism for energy generation.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | TUBULAR ABSORPTION DEFECT; PEROXISOME PROLIFERATION; HYPOPHOSPHATEMIC RICKETS; LOWE-SYNDROME; AMINO-ACIDS; GLUCOSE; MICE; PHENOTYPE; MUTATION; DISEASE; acute kidney injury; EHHADH; proximal tubule; renal Fanconi syndrome |
| Subjects: | 500 Science > 570 Life sciences |
| Divisions: | Biology, Preclinical Medicine > Institut für Physiologie > Prof. Dr. Richard Warth |
| Depositing User: | Petra Gürster |
| Date Deposited: | 25 Aug 2020 10:46 |
| Last Modified: | 25 Aug 2020 10:46 |
| URI: | https://pred.uni-regensburg.de/id/eprint/4904 |
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