http://www.fpnotebook.com/
Fanconi's SyndromeAka: Fanconi Syndrome
- Pathophysiology
- Deficient Renal Tubular excretion
- Results in
- Aminoaciduria
- Glycosuria
- Hypophosphatemia
- Causes
- Hereditary
- Idiopathic (Autosomal Dominant)
- Dent Disease
- X-linked hypophosphatemic Rickets
- X-linked recessive Nephrolithiasis
- Cystinosis (Autosomal recessive)
- Tyrosinemia type I (Autosomal recessive)
- Resolves with Tyrosine, Phenylalanine restriction
- Galactosemia (Autosomal recessive)
- Resolves with galactose restriction
- Hereditary Fructose Intolerance
- Resolves with fructose restriction
- Glycogen Storage Disease
- Wilson Disease (Autosomal recessive)
- Cytochrome C Oxidase deficiency
- Oculocerebrorenal Syndrome of Lowe
- Acquired form
- Multiple Myeloma
- Nephrotic Syndrome
- Chronic tubulointerstitial nephritis
- Amyloidosis
- Renal transplantation
- Malignancy
- Medications
- Cisplatin
- Aminoglycosides
- 6-Mercaptopurine
- Valproate
- Expired Tetracyclines
- Methyl-3-Chrome
- Ifosfamide
- Heavy metals
- Cadmium
- Mercury
- Lead
- Uranium
- Platinum
- Chemicals
- Toluene
- Maleate
- Paraquat
- Lysol
- Hereditary
- Symptoms
- Children
- Polydipsia
- Malnutrition
- Increased susceptibility to infection
- Adults
- Pain in weight bearing joints
- Dehydration
- Children
- Signs
- Children
- Adults
- Osteomalacia
- Osteoporosis
- Pathologic Fractures
- Labs
- Urine
- Aminoaciduria (low molecular weight Proteinuria)
- Cystinuria
- Glycosuria
- Phosphaturia
- Metabolic Panel
- Urine
Fanconi Syndrome (C0015624) | |
|---|---|
| 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. |
| Definition (CSP) | constellation of clinical and laboratory manifestations produced by generalized proximal tubular insufficiency in the presence of normal, or nearly normal, glomerular filtration. |
| Concepts | Disease or Syndrome (T047) |
| ICD9 | 270.0 |
| English | 'De Toni-Fanconi-Debre' syndrome, Congenital Fanconi syndrome, CTNS, De Toni Debre Fanconi Syndrome, de Toni-Debre-Fanconi syndrome, De Toni-Fanconi syndrome, deToni Fanconi syndrome, Fanconi Renotubular Syndrome, Fanconi Syndrome, Fanconi-de Toni syndrome, Fanconi-de Toni-Debre syndrome, Fanconi-de-Toni syndrome, FRTS, Infantile nephropathic cystinosis, Lignac Fanconi Syndrome, Lignac-Fanconi syndrome, Nephropathic cystinosis, Primary Fanconi syndrome, Proximal Renal Tubular Dysfunction, Renal Fanconi Syndrome, RFS |
| Spanish | cistinosis nefropatica, cistinosis nefropatica infantil, sindrome de De Toni - Fanconi, sindrome de Fanconi, sindrome de Fanconi congenito, sindrome de Fanconi primario, sindrome de Fanconi-de Toni-Debre, sindrome de Fanconi-Toro, sindrome de Lignac - Fanconi, sindrome de Lignac-Fanconi |
| Parent Concepts | Amino Acid Metabolism, Inborn Errors (C0002514), Syndrome (C0039082), inborn biological transport disorder (C0596765), Kidney Diseases (C0022658), Renal Tubular Transport, Inborn Errors (C0035091), Hereditary Diseases (C0019247), Cystinosis (C0010690), Fanconi Syndrome (C0015624), Nephritis, Interstitial (C0027707), Renal tubular disorder (C0151747), Amino acid transport disorder (C0268641), Connective tissue hereditary disorder (C0410787), Congenital connective tissue disorder (C0852085), Duplicate concept (C1274013), Hereditary disorder of the urinary system (C1285467), Ambiguous concept (C1274012) |
| Sources | AOD, CSP, DXP, MSH, MTH, MTHICD9, NCI, NDFRT, OMIM, SCTSPA, SNOMEDCT Derived from the NIH UMLS (Unified Medical Language System) |
