DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Bartter Syndrome

HIGH SEVERITY

A group of renal tubular disorders affecting salt reabsorption in thick ascending limb of Henle. Characterized by salt wasting, hypokalemia, metabolic alkalosis, and hypercalciuria. Several genetic types with different severity.

Global Affected

30.0K

Countries

15

Symptoms

Polyuria/polydipsia
Salt craving
Growth failure
Hypokalemia
Metabolic alkalosis
Hypercalciuria/nephrocalcinosis
Muscle weakness
Constipation

Treatment Options

Genetic counseling
Supportive care
Symptom management
Enzyme replacement (if applicable)
Physical therapy
Regular monitoring
Multidisciplinary care

Risk Factors

1Family history
2Genetic mutations
3Consanguinity
4Advanced paternal age
5Ethnic predisposition

Diagnostic Methods

  • 1Genetic testing
  • 2Clinical evaluation
  • 3Family history assessment
  • 4Specialized laboratory tests
  • 5Imaging studies
  • 6Biopsy (if applicable)

Prognosis

Good with treatment. Lifelong potassium supplementation required. Growth normalization possible with therapy. Risk of nephrocalcinosis. Type IV has poorer prognosis with hearing loss and renal failure.

Prevention

  • Genetic counseling
  • Carrier screening
  • Prenatal diagnosis
  • Preimplantation genetic diagnosis
  • Family planning

Research Status

Potassium supplementation, potassium-sparing diuretics (spironolactone), NSAIDs (indomethacin). Sodium chloride supplements. Growth hormone in some. Monitoring for nephrocalcinosis and renal function.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanBrazilMexicoNigeriaSouth AfricaIndiaChina

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK1116
  • https://medlineplus.gov/genetics
  • https://rarediseases.org

Medical Disclaimer

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