Nephrology Book

Fanconi

  • Fanconi's Syndrome

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Fanconi's Syndrome

Aka: Fanconi's Syndrome, Fanconi Syndrome
  1. Pathophysiology
    1. Deficient Renal Tubular excretion
    2. Results in
      1. Aminoaciduria
      2. Glycosuria
      3. Hypophosphatemia
  2. 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
  3. Symptoms
    1. Children
      1. Polydipsia
      2. Malnutrition
      3. Increased susceptibility to infection
    2. Adults
      1. Pain in weight bearing joints
      2. Dehydration
  4. 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
  5. 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

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 (CSP) constellation of clinical and laboratory manifestations produced by generalized proximal tubular insufficiency in the presence of normal, or nearly normal, glomerular filtration.
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 61598006, 267415003, 40488004, 190681003, 62332007, 236466005, 111398009, 367374009, 253060009, 190683000
English Fanconi's syndrome, childhood type, De Toni Debre Fanconi Syndrome, De Toni-Debre-Fanconi Syndrome, Fanconi Syndrome, Lignac Fanconi Syndrome, Lignac-Fanconi Syndrome, Syndrome, De Toni-Debre-Fanconi, Syndrome, Fanconi, Syndrome, Lignac-Fanconi, deToni Fanconi syndrome, FANCONI SYNDROME, Fanconi syndrome, NOS, Fanconi-de Toni-Debre syndrome, Infant nephropathic cystinosis, Proximal Renal Tubular Dysfunction, Fanconi Renotubular Syndrome, Renal Fanconi Syndrome, Syndrome, Fanconi Renotubular, 'De Toni-Fanconi-Debre' syndrome, CYSTINOSIS, NEPHROPATHIC, FANCONI-BICKEL SYNDROME, CTNS, HEPATIC GLYCOGENOSIS WITH FANCONI NEPHROPATHY, GLYCOGENOSIS, FANCONI TYPE, PSEUDO-PHLORIZIN DIABETES, CYSTINOSIN, DEFECT OF, FBS, Renal Fanconi syndrome, FANCONI SYNDROME WITH INTESTINAL MALABSORPTION AND GALACTOSE INTOLERANCE, LYSOSOMAL CYSTINE TRANSPORT PROTEIN, DEFECT OF, RFS, HEPATORENAL GLYCOGENOSIS WITH RENAL FANCONI SYNDROME, HEPATIC GLYCOGENOSIS WITH AMINO ACIDURIA AND GLUCOSURIA, RENAL FANCONI SYNDROME, FANCONI SYNDROME WITHOUT CYSTINOSIS, Fanconi's syndrome, Fanconi's syndrome (diagnosis), de Toni-Debre-Fanconi syndrome, Proximal renal tubular dysfunction, Primary Toni Debre Fanconi Syndrome, Idiopathic De Toni-Debre-Fanconi Syndrome, Neonatal De Toni-Debre-Fanconi Syndrome, Neonatal De Toni Debre Fanconi Syndrome, Toni-Debre-Fanconi Syndrome, Primary, Idiopathic De Toni Debre Fanconi Syndrome, Primary Toni-Debre-Fanconi Syndrome, Toni-Debre-Fanconi Syndrome, Toni Debre Fanconi Syndrome, GSD11, GLYCOGEN STORAGE DISEASE XI, GSD XI, LACTATE DEHYDROGENASE A DEFICIENCY, Fanconi Syndrome [Disease/Finding], fancony syndrome, fanconies syndrome, fanconi bickel syndrome, fanconi-bickel syndrome, fanconis syndrome, nephropathic cystinosis, fanconi syndrome, FANCONI RENOTUBULAR SYNDROME, FRTS1, FANCONI RENOTUBULAR SYNDROME 1, FRTS, Hepatorenal glycogenosis with renal Fanconi syndrome, Pseudo-phlorizin diabetes, Glycogen storage disease XI, Glycogenosis, Fanconi type, Fanconi syndrome with intestinal malabsorption and galactose intolerance, Hepatic glycogenosis with fanconi nephropathy, Hepatic glycogenosis with amino aciduria and glucosuria, Fanconi Bickel syndrome, Fanconi syndrome, Lignac-Fanconi syndrome, Fanconi-Bickel syndrome, Glycogenosis with glucoaminophosphaturia, Hepatic glycogenosis with de Toni-Debre-Fanconi syndrome, Infantile nephropathic cystinosis, Nephropathic cystinosis, Renal glucose-losing syndrome, Congenital Fanconi syndrome, Primary Fanconi syndrome, De Toni-Fanconi syndrome, Congenital Fanconi syndrome (disorder), Fanconi syndrome (disorder), Glycogenosis with glucoaminophosphaturia (disorder), Hepatic glycogenosis with de Toni-Debré-Fanconi syndrome, Infantile nephropathic cystinosis (disorder), Fanconi, Fanconi-de Toni-Debre syndrome (disorder), Fanconi-de-Toni syndrome, Infantile nephropathic cystinosis [Ambiguous], Fanconi syndrome congenital, Fanconi-de Toni syndrome
Portuguese SINDROME DE FANCONI, Síndrome de De Toni-Fanconi, Síndrome de Fanconi congénito, Disfunção tubular renal proximal, Disfunção Tubular Renal Proximal, Síndrome de Fanconi Renal, Síndrome Renal de Fanconi, Síndrome de Detoni-Debre-Fanconi, Síndrome de Fanconi, Síndrome de Lignac-Fanconi
Spanish SINDROME DE FANCONI, Síndrome de Fanconi congénito, Síndrome de De Toni-Fanconi, Disfunción tubular renal proximal, Disfunción Tubular Renal Proximal, Disfuncion Tubular Renal Proximal, Infantile nephropathic cystinosis [Ambiguous], Infantile nephropathic cystinosis, Fanconi-de-Toni syndrome, Síndrome Renal de Fanconi, Síndrome de Fanconi Renal, Sindrome Renal de Fanconi, Sindrome de Fanconi Renal, cistinosis nefropática infantil (trastorno), cistinosis nefropática infantil, cistinosis nefropática, glucogenosis con glucoaminofosfaturia (trastorno), glucogenosis con glucoaminofosfaturia, glucogenosis hepática con síndrome de Toni - Debré - Fanconi, síndrome de Fanconi (trastorno), síndrome de Fanconi - Bickel, síndrome de Fanconi congénito (trastorno), síndrome de Fanconi congénito, síndrome de Fanconi primario, síndrome de Fanconi-Toro, síndrome de Fanconi-de Toni-Debre (trastorno), síndrome de Fanconi-de Toni-Debre, síndrome de Fanconi, síndrome de Lignac - Fanconi, síndrome de Lignac-Fanconi, síndrome de pérdida renal de glucosa, síndrome de De Toni - Fanconi, Sindrome de Fanconi, Síndrome de Fanconi, Síndrome de Lignac-Fanconi, Síndrome de Toni-Debre-Fanconi, Sindrome de Lignac-Fanconi, Sindrome de Toni-Debre-Fanconi
Dutch syndroom van Fanconi, syndroom van de Toni-Fanconi, proximale renale tubulaire disfunctie, syndroom van Fanconi, congenitaal, 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 Syndrome de Fanconi congénital, Dysfonction des tubes rénaux proximaux, Syndrome de Toni-Fanconi, SYNDROME DE FANCONI, Diabète phospho-gluco-aminé, Syndrome de Fanconi, Syndrome de De Toni-Debré-Fanconi
German proximale Nierentubulusdysfunktion, Debre-Toni-Fanconi Syndrom, Kongenitales Fanconi Syndrom, DEBRE-DE-TONI-FANCONI SYNDROM, Fanconi-Syndrom, Lignac-Fanconi-Syndrom, Fanconi-Debré-De-Toni-Syndrom
Italian Sindrome di De Toni-Fanconi, Sindrome di Fanconi congenita, 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 ドトーニ・ファンコーニ症候群, 先天性ファンコニー症候群, 近位腎尿細管機能障害, ファンコニーショウコウグン, ドトーニファンコーニショウコウグン, キンイジンニョウサイカンキノウショウガイ, センテンセイファンコニーショウコウグン, 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, Fanconiho syndrom kongenitální, De Toni-Fanconiho syndrom
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, De toni-fanconi syndroma, Veleszületett fanconi syndroma, Proximalis renalis tubularis működési zavar
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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