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Definition

A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS1 inheritance is autosomal dominant.

Acronym

FRTS1

Synonyms

Adult Fanconi syndrome
Fanconi renotubular syndrome
Fanconi syndrome without cystinosis
FRTS
Luder-Sheldon syndrome
Renal Fanconi syndrome
RFS

 
Disclaimer

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