Bartlett syndrome is a rare genetic disorder that primarily affects the development of the kidneys. It is caused by mutations in the SLC26A7 gene, which plays a crucial role in the production of a protein responsible for transporting chloride ions across cell membranes. This malfunction leads to several health complications, particularly in the kidneys.
Symptoms of Bartlett Syndrome:
- Renal Tubular Acidosis (RTA): This is the most common symptom and causes the kidneys to struggle to eliminate acid from the body, leading to an imbalance in blood pH.
- Hypokalemia: Low potassium levels in the blood can result in muscle weakness, fatigue, and irregular heartbeat.
- Hypomagnesemia: Low magnesium levels in the blood can also contribute to muscle weakness and fatigue.
- Hypercalciuria: Elevated calcium levels in the urine can increase the risk of kidney stones.
- Growth Delay: Affected individuals may experience slowed growth due to the body's inability to absorb essential nutrients.
- Hearing Loss: Some individuals with Bartlett syndrome may experience hearing loss, although it's not always present.
Diagnosis and Treatment:
Diagnosis typically involves a combination of clinical examination, blood and urine tests, and genetic testing to confirm the mutation in the SLC26A7 gene. Treatment focuses on managing the symptoms and complications, including:
- RTA Management: Medications to help the kidneys eliminate acid from the body.
- Electrolyte Replacement: Potassium and magnesium supplements to correct low levels in the blood.
- Kidney Stone Prevention: Medications and dietary adjustments to reduce the risk of kidney stones.
- Growth Hormone Therapy: May be considered in cases of growth delay.
Living with Bartlett Syndrome:
Living with Bartlett syndrome requires ongoing medical care and monitoring to manage the symptoms and prevent complications. Early diagnosis and appropriate treatment can significantly improve the quality of life for affected individuals.
