Bartter's syndrome
ICD-10 E26.81 is a billable code used to indicate a diagnosis of bartter's syndrome.
Bartter's syndrome is a rare genetic disorder characterized by a group of conditions that affect the kidneys' ability to reabsorb sodium, chloride, and potassium. This results in a significant loss of electrolytes and can lead to metabolic alkalosis, hypokalemia, and hyperreninemia. The syndrome is often classified into two main types: classic Bartter's syndrome, which presents in infancy or early childhood, and a variant form that may appear later in life. Patients typically exhibit symptoms such as excessive thirst, frequent urination, muscle weakness, and growth retardation in children. The underlying pathophysiology involves mutations in genes responsible for the transport of ions in the renal tubules, leading to an imbalance in electrolyte levels and subsequent hormonal changes, particularly involving the renin-angiotensin-aldosterone system. Hormonal imbalances can also affect parathyroid hormone levels, leading to further complications. Diagnosis is often confirmed through genetic testing and assessment of electrolyte levels, and management focuses on electrolyte replacement and monitoring to prevent complications.
Detailed records of renal function tests, electrolyte levels, and genetic testing results.
Management of patients with recurrent hypokalemia and metabolic alkalosis.
Ensure thorough documentation of all laboratory results and treatment plans to support the diagnosis.
Growth charts, developmental assessments, and family history of genetic disorders.
Evaluation of children presenting with failure to thrive and electrolyte imbalances.
Documenting the impact of Bartter's syndrome on growth and development is crucial.
Used to monitor electrolyte levels in patients diagnosed with Bartter's syndrome.
Document the rationale for testing and results to support ongoing management.
Nephrology specialists should ensure comprehensive documentation of electrolyte management.
Common symptoms include excessive thirst, frequent urination, muscle weakness, and growth retardation in children.
Diagnosis is typically made through a combination of clinical evaluation, laboratory tests for electrolyte levels, and genetic testing.
Management focuses on electrolyte replacement, monitoring, and addressing any complications that arise from the condition.
