Primary Fanconi renotubular syndrome

Orpha code: 3337OMIM code: 618913

Definition

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.

Disease data
Classification

Disease

Synonyms
DeToni-Debré-Fanconi syndrome
Pierwotny zespół nerkowo-kanalikowy Fanconiego
Primary Fanconi renal syndrome
ORPHA code
3337
OMIM code
618913
ICD10 code
E72.0
ICD11 code
GB90.42

No additional description.

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