Primary Fanconi renotubular syndrome

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Synonyms: DeToni-Debré-Fanconi syndrome | Primary Fanconi renal syndrome

A rare generalized genetic disorder of proximal tubular transport characterized by excessive urine output with loss of low molecular weight solutes (amino acids glucose low-molecular weight proteins organic acids carnitine calcium phosphate potassium bicarbonate) and water and which can be life threatening.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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Primary Fanconi renotubular syndrome?

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