DISEASE SCANNER

Global Incurable Diseases Tracker

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Nephrologic Disease

Fanconi Syndrome

MODERATE

A disorder of the kidney tubules in which certain substances that are normally absorbed into the bloodstream are instead released into the urine. Can be inherited or acquired. Leads to loss of glucose, amino acids, phosphate, bicarbonate, and other substances.

Global Affected

50.0K

Countries

15

Symptoms

Excessive thirst
Excessive urination
Dehydration
Bone pain
Muscle weakness
Growth failure (children)
Rickets
Electrolyte imbalances
Metabolic acidosis

Treatment Options

Phosphate supplements
Vitamin D
Sodium bicarbonate
Potassium supplements
Cysteamine (cystinosis)
Carnitine supplementation
High fluid intake
Thiazide diuretics
ACE inhibitors (for proteinuria)

Risk Factors

1Cystinosis
2Lowe syndrome
3Wilson disease
4Tyrosinemia
5Galactosemia
6Certain medications (outdated tetracyclines, valproate)
7Heavy metal exposure
8Multiple myeloma

Diagnostic Methods

  • 1Urinalysis (glucose, amino acids)
  • 2Blood tests (electrolytes, phosphate)
  • 3Renal tubular function tests
  • 4Genetic testing
  • 5Ophthalmologic exam (cystinosis)
  • 6Skeletal survey (rickets)

Prognosis

Variable by cause. Cystinosis: progressive without treatment. Acquired forms may resolve if cause removed. Chronic kidney disease common endpoint. Early treatment improves growth and kidney outcomes.

Prevention

  • Genetic counseling for inherited forms
  • Avoid outdated tetracyclines
  • Monitor kidney function in at-risk patients
  • Early diagnosis and treatment

Research Status

Treatment focuses on replacing lost substances. Phosphate and vitamin D for bone disease. Bicarbonate for acidosis. Cysteamine for cystinosis (most common cause in children). Research into gene therapy for inherited forms.

Affected Countries

AustraliaBrazilCanadaColombiaGermanyEESpainFranceUnited KingdomHungaryItalyJapanLVMexicoUnited States

Sources

  • https://www.kidney.org
  • https://rarediseases.org
  • https://www.niddk.nih.gov

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.