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10.1093/ckj/sfu070

http://scihub22266oqcxt.onion/10.1093/ckj/sfu070
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C4377815!4377815!25852908
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suck abstract from ncbi


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pmid25852908      Clin+Kidney+J 2014 ; 7 (4): 344-7
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  • Dent?Wrong disease and other rare causes of the Fanconi syndrome #MMPMID25852908
  • Solano A; Lew SQ; Ing TS
  • Clin Kidney J 2014[Aug]; 7 (4): 344-7 PMID25852908show ga
  • Dent?Wrong disease, an X-linked recessive disorder of the proximal tubules, presents with hypercalciuria, nephrocalcinosis, nephrolithiasis, renal insufficiency, low-molecular-weight proteinuria, rickets and/or osteomalacia. Dent and Friedman initially characterized the disorder in 1964 following studies of two patients with rickets who presented with hypercalciuria, hyperphosphaturia, proteinuria and aminoaciduria. Since then, extensive investigation identified two genetic mutations (CLCN5 and OCRL1) to be associated with Dent?Wrong disease. Clinical features supported by laboratory findings consistent with proximal tubule dysfunction help diagnose Dent?Wrong disease. Genetic analysis supports the diagnosis; however, these two genes can be normal in a small subset of patients. The differential diagnosis includes other forms of the Fanconi syndrome, which can be hereditary or acquired (e.g. those related to exposure to exogenous substances). Treatment is supportive with special attention to the prevention of nephrolithiasis and treatment of hypercalciuria. We review the rare forms of Fanconi syndrome with special attention to Dent?Wrong disease.
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