• A constellation of functional abnormalities including aminoaciduria, glycosuria, phosphaturia, renal tubular acidosis, and hypophosphatemia, resulting from decreased reabsorption caused by proximal renal tubule dysfunction.
  NICHD Pediatric Terminology
  U.S. National Cancer Institute, 2021
• A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.
  NCI Thesaurus
  U.S. National Cancer Institute, 2021
• A hereditary or acquired form of generalized dysfunction of the PROXIMAL KIDNEY TUBULE without primary involvement of the KIDNEY GLOMERULUS. It is usually characterized by the tubular wasting of nutrients and salts (GLUCOSE; AMINO ACIDS; PHOSPHATES; and BICARBONATES) resulting in HYPOKALEMIA; ACIDOSIS; HYPERCALCIURIA; and PROTEINURIA.
  NLM Medical Subject Headings
  U.S. National Library of Medicine, 2021
• Fanconi syndrome consists of multiple defects in renal proximal tubular reabsorption, causing glucosuria, phosphaturia, generalized aminoaciduria, and bicarbonate wasting. It may be hereditary or acquired. Symptoms in children are failure to thrive, growth retardation, and rickets. Symptoms in adults are osteomalacia and muscle weakness....
  Merck Manuals
  Merck & Co., Inc., 2020
• The renal syndrome that is associated with the Swiss pediatrician Guido Fanconi was actually described in parts and under various names by several investigators who preceded him. The first investigator was Abderhalden; in 1903, he found cystine crystals in the liver and spleen of a 21-month-old infant and called the disease
  Medscape
  WebMD, 2019
• Fanconi syndrome (FS) affects the way the kidneys work. In FS, the kidneys do not properly absorb electrolytes and other substances into the body. Symptoms can begin at any age. They may include slow growth, fragile bones, frequent urination, and dehydration. Other symptoms include weakness, tremors, and fatigue. FS can occur as an...
  NIH Genetic and Rare Diseases
  National Center for Advancing Translational Sciences