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A Case of Isolated Glycosuria Mediated by an SLC5A2 Gene Mutation and Characterized by Postprandial Heavy Glycosuria Without Salt Wasting

Kim KM, Kwon SK, Kim HY

Familial renal glycosuria (FRG) is an inherited disorder characterized by persistent glycosuria in the absence of hyperglycemia. It is caused by mutations in the sodium-glucose co-transporter, leading to increase in...
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A Case of Adult Fanconi's Syndrome with Glomerular Podocyte Foot Process Effacement and osteomalacia Induced by k Light Chain Disease

Nam JH, Choi GH, Park KH, Ahn CW, Song YD, Lim SK, Lee HC, Huh KB

  • KMID: 2199746
  • J Korean Soc Endocrinol.
  • 2000 Oct;15(4-5):627-633.
The Fanconi's syndrome is characterized by generalized disturbance of proximal tubular function. It leads to excessive losses of amino acids, glucose, phosphate, bicarbonate, and other substrates handled by the proximal...
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A Case of Tubulointerstitial Nephritis and Uveitis with Fanconi Syndrome

Kim M, Kim HW, Kim JY, Jeong J, Park EJ, Kim J, Kim SM

Tubulointerstitial nephritis and uveitis (TINU) syndrome is a rare disease that comprises 4.7% of acute interstitial nephritis. With reno-ocular manifestations, TINU syndrome is accompanied by symptoms such as fever, fatigue,...
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A case of adult Fanconi syndrome related with cadmium intoxi Seoul Korea

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  • KMID: 2080813
  • Korean J Med.
  • 2001 Sep;61(3):276-280.
Adult Fanconi syndrome is a very rare disease characterized by renal glycosuria, generalized aminoaciduria, hypophosphatemia, hypouricemia and proximal renal tubular acidosis. It is divided into inherited and acquired forms. Proximal...
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Adult Idiopathic Renal Fanconi Syndrome: A Case Report

Park DJ, Jang KS, Kim GH

Renal Fanconi syndrome (RFS) is caused by generalized proximal tubular dysfunction and can be divided into hereditary and acquired form. Adult-onset RFS is usually associated with drug toxicity or systemic...
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Novel SLC5A2 Mutations and Genetic Characterization in Korean Patients with Familial Renal Glucosuria

Lee WK, Oh SH, Chung WY

PURPOSE: Familial renal glucosuria (FRG, OMIM #233100) is a rare but relatively benign genetic condition characterized by persistent isolated glucosuria with a normal blood glucose level. We report three additional...
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