II. Pathophysiology

  1. Deficient Renal Tubular excretion
  2. Results in
    1. Aminoaciduria
    2. Glycosuria
    3. Hypophosphatemia

III. Causes

  1. Hereditary
    1. Idiopathic (Autosomal Dominant)
    2. Dent Disease
      1. X-linked hypophosphatemic Rickets
      2. X-linked recessive Nephrolithiasis
    3. Cystinosis (Autosomal Recessive)
    4. Tyrosinemia type I (Autosomal Recessive)
      1. Resolves with Tyrosine, Phenylalanine restriction
    5. Galactosemia (Autosomal Recessive)
      1. Resolves with galactose restriction
    6. Hereditary Fructose Intolerance
      1. Resolves with fructose restriction
    7. Glycogen Storage Disease
    8. Wilson Disease (Autosomal Recessive)
    9. Cytochrome C Oxidase deficiency
    10. Oculocerebrorenal Syndrome of Lowe
  2. Acquired form
    1. Multiple Myeloma
    2. Nephrotic Syndrome
    3. Chronic tubulointerstitial nephritis
    4. Amyloidosis
    5. Renal transplantation
    6. Malignancy
    7. Medications
      1. Cisplatin
      2. Aminoglycosides
      3. 6-Mercaptopurine
      4. Valproate
      5. Expired Tetracyclines
      6. Methyl-3-Chrome
      7. Ifosfamide
    8. Heavy metals
      1. Cadmium
      2. Mercury
      3. Lead
      4. Uranium
      5. Platinum
    9. Chemicals
      1. Toluene
      2. Maleate
      3. Paraquat
      4. Lysol

IV. Symptoms

  1. Children
    1. Polydipsia
    2. Malnutrition
    3. Increased susceptibility to infection
  2. Adults
    1. Pain in weight bearing joints
    2. Dehydration

V. Signs

  1. Children
    1. Growth Retardation
    2. Developmental Delay
    3. Bony deformities similar to Rickets
    4. Waddling Gait
    5. Pathologic Fractures
  2. Adults
    1. Osteomalacia
    2. Osteoporosis
    3. Pathologic Fractures

VI. Labs

  1. Urine
    1. Aminoaciduria (low molecular weight Proteinuria)
    2. Cystinuria
    3. Glycosuria
    4. Phosphaturia
  2. Metabolic Panel
    1. Hypokalemia
    2. Metabolic Acidosis
    3. Hypercalciuria

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Ontology: Fanconi Syndrome (C0015624)

Definition (NCI) 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.
Definition (MSH) 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.
Concepts Disease or Syndrome (T047)
MSH D005198
SnomedCT 40488004
English Fanconi Syndrome, Syndrome, Fanconi, FANCONI SYNDROME, Proximal Renal Tubular Dysfunction, Proximal renal tubular dysfunction, Fanconi Syndrome [Disease/Finding], fanconis syndrome, nephropathic cystinosis, fanconi syndrome, Fanconi syndrome (diagnosis), Fanconi's syndrome, Fanconi syndrome, Fanconi syndrome (disorder), Fanconi, Fanconi syndrome, NOS, Lignac-Fanconi Syndrome
Portuguese SINDROME DE FANCONI, Disfunção tubular renal proximal, Disfunção Tubular Renal Proximal, Síndrome de Fanconi Renal, Síndrome de Fanconi
Spanish SINDROME DE FANCONI, Disfunción tubular renal proximal, Disfunción Tubular Renal Proximal, Síndrome de Fanconi Renal, síndrome de Fanconi (trastorno), síndrome de Fanconi, Síndrome de Fanconi
Dutch syndroom van Fanconi, proximale renale tubulaire disfunctie, Congenitale hypoplastische anemie, Constitutionele infantiele panmyelopathie, DeToni-Debre-Fanconi syndroom, DeToni-Fanconi syndroom, Fanconi's anemie, Fanconi's pancytopenie, Fanconi's syndroom, Lignac syndroom, Lignac-Fanconi syndroom, Pancytopenie dysmelie syndroom, Syndroom, Fanconi's
French Dysfonction des tubes rénaux proximaux, SYNDROME DE FANCONI, Diabète phospho-gluco-aminé, Syndrome de Fanconi, Syndrome de De Toni-Debré-Fanconi
German proximale Nierentubulusdysfunktion, DEBRE-DE-TONI-FANCONI SYNDROM, Fanconi-Syndrom
Italian Disfunzione tubulare renale prossimale, Sindrome di De Toni-Debré-Fanconi, Sindrome di Lignac-Fanconi, Sindrome renale di Fanconi, Sindrome reno-tubulare di Fanconi, Sindrome tubulare renale di Fanconi, Sindrome di Fanconi
Japanese 近位腎尿細管機能障害, ファンコニーショウコウグン, キンイジンニョウサイカンキノウショウガイ, Lignac-Fanconi症候群, ファンコニー症候群, ファンコニ症候群, ドトーニ・デブレ・ファンコニ症候群, 近位尿細管機能不全, ファンコーニ症候群, De Toni-Debre-Fanconi症候群, Fanconi症候群
Swedish Fanconis syndrom
Czech Fanconiho syndrom, Proximální renální tubulární dysfunkce
Finnish Fanconin oireyhtymä
Russian FANKONI SINDROM, LIGNASA-FANKONI SINDROM, DE TONI-DEBRE-FANKONI SINDROM, POCHECHNYKH PROKSIMAL'NYKH KANAL'TSEV DISFUNKTSIIA, PROKSIMAL'NYKH POCHECHNYKH KANAL'TSEV DISFUNKTSIIA, ДЕ ТОНИ-ДЕБРЕ-ФАНКОНИ СИНДРОМ, ЛИГНАСА-ФАНКОНИ СИНДРОМ, ПОЧЕЧНЫХ ПРОКСИМАЛЬНЫХ КАНАЛЬЦЕВ ДИСФУНКЦИЯ, ПРОКСИМАЛЬНЫХ ПОЧЕЧНЫХ КАНАЛЬЦЕВ ДИСФУНКЦИЯ, ФАНКОНИ СИНДРОМ
Polish Zespół de Toniego-Debre-Fanconiego, Zespół Fanconiego
Hungarian Fanconi-syndroma, Proximalis renalis tubularis működési zavar
Norwegian Fanconis syndrom