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Volumn 30, Issue 9, 2015, Pages 1456-1460

Renal Fanconi syndrome: Taking a proximal look at the nephron

Author keywords

Acute kidney injury; EHHADH; proximal tubule; renal Fanconi syndrome

Indexed keywords

ALBUMINURIA; AMINOACIDURIA; AUTOSOMAL DOMINANT INHERITANCE; CHRONIC KIDNEY DISEASE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; FANCONI RENOTUBULAR SYNDROME; GLOMERULUS FILTRATION; GLUCOSURIA; KIDNEY PROXIMAL TUBULE; KIDNEY TUBULE ABSORPTION; MISSENSE MUTATION; PEROXISOME; PHOSPHATURIA; PRIORITY JOURNAL; PROTEINURIA; REVIEW; GENETICS; HETEROZYGOTE; HUMAN; PATHOLOGY;

EID: 84940660771     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfu377     Document Type: Review
Times cited : (74)

References (36)
  • 1
    • 33749025551 scopus 로고    scopus 로고
    • Bartter syndromes and other salt-losing tubulopathies
    • Kleta R, Bockenhauer D. Bartter syndromes and other salt-losing tubulopathies. Nephron Physiol 2006; 104: p73-p80
    • (2006) Nephron Physiol , vol.104 , pp. p73-p80
    • Kleta, R.1    Bockenhauer, D.2
  • 2
    • 57049184564 scopus 로고    scopus 로고
    • Antenatal Bartter's syndrome: Why is this not a lethal condition
    • Bockenhauer D, Cruwys M, Kleta R et al. Antenatal Bartter's syndrome: why is this not a lethal condition? QJM 2008; 101: 927-942
    • (2008) QJM , vol.101 , pp. 927-942
    • Bockenhauer, D.1    Cruwys, M.2    Kleta, R.3
  • 3
    • 84930449756 scopus 로고    scopus 로고
    • Short-term functional adaptation of aquaporin-1 surface expression in the proximal tubule, a component of glomerulotubular balance
    • Pohl M, Shan Q, Petsch T et al. Short-term functional adaptation of aquaporin-1 surface expression in the proximal tubule, a component of glomerulotubular balance. J Am Soc Nephrol 2015; 26: 1269-1278
    • (2015) J Am Soc Nephrol , vol.26 , pp. 1269-1278
    • Pohl, M.1    Shan, Q.2    Petsch, T.3
  • 4
    • 41449098980 scopus 로고    scopus 로고
    • Aminoacidurias: Clinical and molecular aspects
    • Camargo SM, Bockenhauer D, Kleta R. Aminoacidurias: clinical and molecular aspects. Kidney Int 2008; 73: 918-925
    • (2008) Kidney Int , vol.73 , pp. 918-925
    • Camargo, S.M.1    Bockenhauer, D.2    Kleta, R.3
  • 5
    • 0033454637 scopus 로고    scopus 로고
    • Pathophysiology and functional significance of apical membrane disruption during ischemia
    • Ashworth SL, Molitoris BA. Pathophysiology and functional significance of apical membrane disruption during ischemia. Curr Opin Nephrol Hypertens 1999; 8: 449-458
    • (1999) Curr Opin Nephrol Hypertens , vol.8 , pp. 449-458
    • Ashworth, S.L.1    Molitoris, B.A.2
  • 7
    • 50549127522 scopus 로고
    • On a form of late rickets associated with albuminuria, rickets of adolescence
    • Lucas RC. On a form of late rickets associated with albuminuria, rickets of adolescence. Lancet 1883: 993-994
    • (1883) Lancet , pp. 993-994
    • Lucas, R.C.1
  • 8
    • 0012954799 scopus 로고
    • Die nicht diabetischen Glykosurien und Hyperglykaemien des aelteren Kindes
    • Fanconi G. Die nicht diabetischen Glykosurien und Hyperglykaemien des aelteren Kindes. Jahrbuch fuer Kinderheilkunde 1931; 133: 257-300
    • (1931) Jahrbuch fuer Kinderheilkunde , vol.133 , pp. 257-300
    • Fanconi, G.1
  • 9
    • 0037485490 scopus 로고
    • Remarks on the relationship between renal rickets (renal dwarfism) and renal diabetes
    • de Toni G. Remarks on the relationship between renal rickets (renal dwarfism) and renal diabetes. Acta Pediatr 1933; 16: 479-484
    • (1933) Acta Pediatr , vol.16 , pp. 479-484
    • De Toni, G.1
  • 10
    • 0037485489 scopus 로고
    • Rachitisme tardif coexistant avec une Nephrite chronique et une Glycosurie
    • Debre R, Marie J, Cleret F et al. Rachitisme tardif coexistant avec une Nephrite chronique et une Glycosurie. Archive de Medicine des Enfants 1934; 37: 597-606
    • (1934) Archive de Medicine des Enfants , vol.37 , pp. 597-606
    • Debre, R.1    Marie, J.2    Cleret, F.3
  • 11
    • 0012023222 scopus 로고
    • Der nephrotisch-glykosurische Zwergwuchs mit hypophosphataemischer Rachitis
    • Fanconi G. Der nephrotisch-glykosurische Zwergwuchs mit hypophosphataemischer Rachitis. Deutsche Medizinische Wochenschrift 1936; 62: 1169-1171
    • (1936) Deutsche Medizinische Wochenschrift , vol.62 , pp. 1169-1171
    • Fanconi, G.1
  • 12
    • 1442306831 scopus 로고    scopus 로고
    • Keratopathy of multiple myeloma masquerading as corneal crystals of ocular cystinosis
    • Kleta R, Blair SC, Bernardini I et al. Keratopathy of multiple myeloma masquerading as corneal crystals of ocular cystinosis. Mayo Clin Proc 2004; 79: 410-412
    • (2004) Mayo Clin Proc , vol.79 , pp. 410-412
    • Kleta, R.1    Blair, S.C.2    Bernardini, I.3
  • 13
    • 84884161341 scopus 로고    scopus 로고
    • Acquired Fanconi syndrome secondary to monoclonal gammopathies: A case series from a single center
    • Magnano L, Fernandez de Larrea C, Cibeira MT et al. Acquired Fanconi syndrome secondary to monoclonal gammopathies: a case series from a single center. Clin Lymphoma Myeloma Leuk 2013; 13: 614-618
    • (2013) Clin Lymphoma Myeloma Leuk , vol.13 , pp. 614-618
    • Magnano, L.1    Fernandez, D.L.C.2    Cibeira, M.T.3
  • 14
    • 79551471490 scopus 로고    scopus 로고
    • Toward understanding renal Fanconi syndrome: Step by step advances through experimental models
    • Sirac C, Bridoux F, Essig M et al. Toward understanding renal Fanconi syndrome: step by step advances through experimental models. Contrib Nephrol 2011; 169: 247-261
    • (2011) Contrib Nephrol , vol.169 , pp. 247-261
    • Sirac, C.1    Bridoux, F.2    Essig, M.3
  • 15
    • 53749090368 scopus 로고    scopus 로고
    • Renal phenotype in Lowe Syndrome: A selective proximal tubular dysfunction
    • Bockenhauer D, Bokenkamp A, van't Hoff W et al. Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction. Clin J Am Soc Nephrol 2008; 3: 1430-1436
    • (2008) Clin J Am Soc Nephrol , vol.3 , pp. 1430-1436
    • Bockenhauer, D.1    Bokenkamp, A.2    Van't Hoff, W.3
  • 16
    • 53749097351 scopus 로고    scopus 로고
    • Fanconi or not Fanconi? Lowe syndrome revisited
    • Kleta R. Fanconi or not Fanconi? Lowe syndrome revisited. Clin J Am Soc Nephrol 2008; 3: 1244-1245
    • (2008) Clin J Am Soc Nephrol , vol.3 , pp. 1244-1245
    • Kleta, R.1
  • 17
    • 84894418984 scopus 로고    scopus 로고
    • The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a beta cell phenotype
    • Hamilton AJ, Bingham C, McDonald TJ et al. The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a beta cell phenotype. J Med Genet 2014; 51: 165-169
    • (2014) J Med Genet , vol.51 , pp. 165-169
    • Hamilton, A.J.1    Bingham, C.2    McDonald, T.J.3
  • 18
    • 0035158542 scopus 로고    scopus 로고
    • Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3
    • Lichter-Konecki U, Broman KW, Blau EB et al. Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3. Am J Hum Genet 2001; 68: 264-268
    • (2001) Am J Hum Genet , vol.68 , pp. 264-268
    • Lichter-Konecki, U.1    Broman, K.W.2    Blau, E.B.3
  • 19
    • 0345146202 scopus 로고
    • A familial tubular absorption defect of glucose and amino acids
    • Luder J, Sheldon W. A familial tubular absorption defect of glucose and amino acids. Arch Dis Child 1955; 30: 160-164
    • (1955) Arch Dis Child , vol.30 , pp. 160-164
    • Luder, J.1    Sheldon, W.2
  • 20
    • 2542581173 scopus 로고
    • A familial tubular absorption defect of glucose and amino acids
    • Sheldon W, Luder J, Webb B. A familial tubular absorption defect of glucose and amino acids. Arch Dis Child 1961; 36: 90-95
    • (1961) Arch Dis Child , vol.36 , pp. 90-95
    • Sheldon, W.1    Luder, J.2    Webb, B.3
  • 21
    • 0024509648 scopus 로고
    • Two case studies from a family with primary Fanconi syndrome
    • Wen SF, Friedman AL, Oberley TD. Two case studies from a family with primary Fanconi syndrome. Am J Kidney Dis 1989; 13: 240-246
    • (1989) Am J Kidney Dis , vol.13 , pp. 240-246
    • Wen, S.F.1    Friedman, A.L.2    Oberley, T.D.3
  • 22
    • 0023681511 scopus 로고
    • Elevated serum 1,25-dihydroxyvitamin D concentrations in siblings with primary Fanconi's syndrome
    • Tieder M, Arie R, Modai D et al. Elevated serum 1,25-dihydroxyvitamin D concentrations in siblings with primary Fanconi's syndrome. N Engl J Med 1988; 319: 845-849
    • (1988) N Engl J Med , vol.319 , pp. 845-849
    • Tieder, M.1    Arie, R.2    Modai, D.3
  • 23
    • 77950250437 scopus 로고    scopus 로고
    • A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome
    • Magen D, Berger L, Coady MJ et al. A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome. N Engl J Med 2010; 362: 1102-1109
    • (2010) N Engl J Med , vol.362 , pp. 1102-1109
    • Magen, D.1    Berger, L.2    Coady, M.J.3
  • 24
    • 31544481921 scopus 로고    scopus 로고
    • SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis
    • Bergwitz C, Roslin NM, Tieder M et al. SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis. Am J Hum Genet 2006; 78: 179-192
    • (2006) Am J Hum Genet , vol.78 , pp. 179-192
    • Bergwitz, C.1    Roslin, N.M.2    Tieder, M.3
  • 25
    • 0025961930 scopus 로고
    • Abnormal renal glucose handling in X-linked hypophosphataemic mice
    • Muhlbauer RC, Fleisch H. Abnormal renal glucose handling in X-linked hypophosphataemic mice. Clin Sci (Lond) 1991; 80: 71-76
    • (1991) Clin Sci (Lond) , vol.80 , pp. 71-76
    • Muhlbauer, R.C.1    Fleisch, H.2
  • 26
    • 84892566155 scopus 로고    scopus 로고
    • Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome
    • 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
    • (2014) N Engl J Med , vol.370 , pp. 129-138
    • Klootwijk, E.D.1    Reichold, M.2    Helip-Wooley, A.3
  • 27
    • 0026813695 scopus 로고
    • Idiopathic fanconi syndrome in a family. Part I. Clinical aspects
    • Tolaymat A, Sakarcan A, Neiberger R. Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects. J Am Soc Nephrol 1992; 2: 1310-1317
    • (1992) J Am Soc Nephrol , vol.2 , pp. 1310-1317
    • Tolaymat, A.1    Sakarcan, A.2    Neiberger, R.3
  • 28
    • 84864054883 scopus 로고
    • Biogenesis disorders: Molecular basis for impaired peroxisomal membrane assembly: In metabolic functions and biogenesis of peroxisomes in health and disease
    • Fujiki Y, Yagita Y, Matsuzaki T. Peroxisome biogenesis disorders: molecular basis for impaired peroxisomal membrane assembly: in metabolic functions and biogenesis of peroxisomes in health and disease. Biochim Biophys Acta 2012; 1822: 1337-1342
    • (1822) Biochim Biophys Acta 2012 , pp. 1337-1342
    • Fujiki, Y.1    Yagita, Y.2    Peroxisome, M.T.3
  • 29
    • 84862333931 scopus 로고    scopus 로고
    • Peroxisomal L-bifunctional enzyme (Ehhadh) is essential for the production of medium-chain dicarboxylic acids
    • Houten SM, Denis S, Argmann CA et al. Peroxisomal L-bifunctional enzyme (Ehhadh) is essential for the production of medium-chain dicarboxylic acids. J Lipid Res 2012; 53: 1296-1303
    • (2012) J Lipid Res , vol.53 , pp. 1296-1303
    • Houten, S.M.1    Denis, S.2    Argmann, C.A.3
  • 30
    • 0032546929 scopus 로고    scopus 로고
    • Steatohepatitis, spontaneous peroxisome proliferation and liver tumors in mice lacking peroxisomal fatty acyl-CoA oxidase. Implications for peroxisome proliferator-activated receptor alpha natural ligand metabolism
    • Fan CY, Pan J, Usuda N et al. Steatohepatitis, spontaneous peroxisome proliferation and liver tumors in mice lacking peroxisomal fatty acyl-CoA oxidase. Implications for peroxisome proliferator-activated receptor alpha natural ligand metabolism. J Biol Chem 1998; 273: 15639-15645
    • (1998) J Biol Chem , vol.273 , pp. 15639-15645
    • Fan, C.Y.1    Pan, J.2    Usuda, N.3
  • 31
    • 10744224980 scopus 로고    scopus 로고
    • Overexpression of peroxisome proliferatoractivated receptor-alpha (PPARalpha)-regulated genes in liver in the absence of peroxisome proliferation in mice deficient in both L-and Dforms of enoyl-CoA hydratase/dehydrogenase enzymes of peroxisomal beta-oxidation system
    • Jia Y, Qi C, Zhang Z et al. Overexpression of peroxisome proliferatoractivated receptor-alpha (PPARalpha)-regulated genes in liver in the absence of peroxisome proliferation in mice deficient in both L-and Dforms of enoyl-CoA hydratase/dehydrogenase enzymes of peroxisomal beta-oxidation system. J Biol Chem 2003; 278: 47232-47239
    • (2003) J Biol Chem , vol.278 , pp. 47232-47239
    • Jia, Y.1    Qi, C.2    Zhang, Z.3
  • 32
    • 0031127316 scopus 로고    scopus 로고
    • Variable peroxisomal and mitochondrial targeting of alanine: Glyoxylate aminotransferase in mammalian evolution and disease
    • Danpure CJ. Variable peroxisomal and mitochondrial targeting of alanine: glyoxylate aminotransferase in mammalian evolution and disease. Bioessays 1997; 19: 317-326
    • (1997) Bioessays , vol.19 , pp. 317-326
    • Danpure, C.J.1
  • 33
    • 0023890242 scopus 로고
    • Metabolic substrate utilization by rabbit proximal tubule. An NADH fluorescence study
    • Balaban RS, Mandel LJ. Metabolic substrate utilization by rabbit proximal tubule. An NADH fluorescence study. Am J Physiol 1988; 254(3 Pt 2): F407-F416
    • (1988) Am J Physiol , vol.254 , Issue.3 , pp. F407-F416
    • Balaban, R.S.1    Mandel, L.J.2
  • 34
    • 33645373039 scopus 로고    scopus 로고
    • Glutathione depletion and increased apoptosis rate in human cystinotic proximal tubular cells
    • Laube GF, Shah V, Stewart VC et al. Glutathione depletion and increased apoptosis rate in human cystinotic proximal tubular cells. Pediatr Nephrol 2006; 21: 503-509
    • (2006) Pediatr Nephrol , vol.21 , pp. 503-509
    • Laube, G.F.1    Shah, V.2    Stewart, V.C.3
  • 35
    • 78449284610 scopus 로고    scopus 로고
    • Pretransplant free fatty acids (FFA) and allograft survival in renal transplantation
    • Baker AC, de Mattos A, Watkins S et al. Pretransplant free fatty acids (FFA) and allograft survival in renal transplantation. J Surg Res 2010; 164: 182-187
    • (2010) J Surg Res , vol.164 , pp. 182-187
    • Baker, A.C.1    De Mattos, A.2    Watkins, S.3
  • 36
    • 84923346326 scopus 로고    scopus 로고
    • Biomarkers of AKI: A review of mechanistic relevance and potential therapeutic implications
    • Alge JL, Arthur JM. Biomarkers of AKI: a review of mechanistic relevance and potential therapeutic implications. Clin J Am Soc Nephrol 2015; 10: 147-155
    • (2015) Clin J Am Soc Nephrol , vol.10 , pp. 147-155
    • Alge, J.L.1    Arthur, J.M.2


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