Which proximal tubular disorders may cause metabolic acidosis?

Updated: Oct 10, 2018
  • Author: Christie P Thomas, MBBS, FRCP, FASN, FAHA; Chief Editor: Vecihi Batuman, MD, FASN  more...
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Answer

Dent disease or X-linked hypercalciuric nephrolithiasis is one example of a generalized proximal tubular disorder characterized by an acidification defect, hypophosphatemia, and hypercalciuria and arises from mutations in the renal chloride channel gene (CLCN5). Homozygous mutations in SCL34A1 also cause a genetic form of Fanconi syndrome.


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