If you’ve never heard of Bartter syndrome, you’re not alone—this rare genetic disorder affects just 1.2 people per million. But for families whose children live with it, understanding its signs, challenges, and treatments can be life-changing. In this article, we’ll share the story of a 3-month-old girl from Syria who was diagnosed with Bartter syndrome, what made her case unique, and what her journey teaches us about this condition.

While every patient’s experience is different, this story highlights why early recognition and careful management matter—and how even rare cases can help doctors and families learn more.

A Quick Look at Bartter Syndrome

Bartter syndrome is a genetic kidney disorder that disrupts how the kidneys reabsorb salt (sodium and chloride) and fluid. This leads to:

Electrolyte imbalances (low potassium, sodium, or chloride in the blood)
Dehydration (from excessive urine output, called polyuria)
Poor growth (failure to thrive)
Metabolic alkalosis (a condition where the blood becomes too alkaline, or “basic”)

Most cases are diagnosed in infancy or childhood, but some types (like antenatal Bartter syndrome) show signs before birth (e.g., too much amniotic fluid, called polyhydramnios). The disorder is caused by mutations in genes that control kidney function, and it requires lifelong management to prevent complications.

Why This Particular Case Matters

The 3-month-old girl in this case was unique for several reasons:

She was full-term: Most infants with antenatal Bartter syndrome are born prematurely.
No hypercalciuria: A common symptom of Bartter syndrome is high calcium in the urine (hypercalciuria), but this baby’s calcium levels were normal.
Diagnostic challenge: Genetic testing (the “gold standard” for diagnosing Bartter syndrome) wasn’t available in Syria, so doctors relied on lab results and symptoms to make the call.

Her case is important because it shows that Bartter syndrome can present differently than expected—even in full-term babies—and that careful monitoring of electrolyte levels (like sodium and potassium) is key to diagnosis, especially when genetic tests aren’t an option.

The Patient’s Journey: From Symptoms to Recovery

What Were the First Signs?

The baby was the first child of healthy parents, born at 40 weeks (full-term) with no pregnancy complications. But from birth, she struggled with:

Vomiting and diarrhea that didn’t improve with medication
Failure to thrive: She wasn’t gaining weight, even with formula feeding
Dehydration: Sunken cheeks, low blood pressure (85/45 mmHg, well below the normal range for infants)
Abnormal lung sounds (from coughing)

Getting a Diagnosis

Doctors ran tests to check her blood and urine. The results were telling:

Low electrolytes: Sodium (124 mmol/L, normal: 135–145), potassium (2.5 mmol/L, normal: 3.5–5.0), chloride (82 mmol/L, normal: 96–106)
High renin and aldosterone: These hormones regulate blood pressure and fluid balance—their levels were elevated, a classic sign of Bartter syndrome.
Metabolic alkalosis: Her blood pH was 7.60 (normal: 7.35–7.45), meaning it was too alkaline.

Even without genetic testing, these results—plus her symptoms—led doctors to diagnose Bartter syndrome.

What Happened Next?

Treatment focused on correcting her electrolyte imbalances and preventing dehydration:

Electrolyte supplements: Potassium chloride to raise her low potassium levels.
High-salt diet: Extra sodium to replace what her kidneys were losing.
NSAIDs: Medications like ibuprofen to reduce excessive urine output (polyuria) and fluid loss.
Aspirin: To lower her elevated platelet count (a sign of inflammation).

The Outcome

Within 1 month, her symptoms improved dramatically:

Electrolyte levels (sodium, potassium) returned to normal.
Blood pressure stabilized.
She started gaining weight.

By the 3-month follow-up, she was off all medications and had no recurrence of symptoms. Her doctors credited early intervention and close monitoring for her success.

What Can We Take Away from This Story?

For Families:

Watch for early signs: If your baby has persistent vomiting, diarrhea, poor growth, or dehydration that doesn’t improve with treatment, ask your doctor about electrolyte tests.
Advocate for monitoring: Even if your child seems “better,” regular follow-ups to check electrolyte levels are critical for preventing complications.
Every case is unique: This baby’s full-term birth and normal calcium levels show that Bartter syndrome can look different in every child. Trust your instincts if something feels “off.”

For Doctors:

Consider Bartter syndrome in full-term infants: Most cases are linked to prematurity, but this case proves it can occur in full-term babies too.
Use lab results wisely: When genetic testing isn’t available, electrolyte levels (low sodium/potassium) and hormone levels (high renin/aldosterone) can still confirm a diagnosis.
Prioritize hydration and electrolytes: The key to managing Bartter syndrome is replacing lost salts and fluids—this baby’s recovery shows how effective this can be.

Important Note:

This is a single case, and not all children with Bartter syndrome will have the same experience. Some may have more severe symptoms or require long-term medication. Always work closely with your child’s doctor to create a personalized care plan.

Looking Ahead: What This Case Teaches Us About Research

The doctors suspect this baby’s case was caused by a mutation in the MAGED2 gene, a newer gene linked to transient (temporary) antenatal Bartter syndrome. However, without genetic testing, they couldn’t confirm this.

This highlights two key needs:

Better access to genetic testing: In developing countries, lack of testing can delay diagnosis and treatment.
More research on MAGED2: This gene is linked to skin conditions (like skin cancer) in some studies, and the baby’s facial flattening (unreported in other Bartter cases) raises questions about how MAGED2 affects other body systems.

By sharing cases like this, researchers can build a better understanding of Bartter syndrome and improve care for future patients.

Key Points to Remember

Bartter syndrome is rare but manageable: With early diagnosis and treatment, most children can live healthy lives.
Symptoms to watch for: Persistent vomiting, diarrhea, poor growth, dehydration, or low blood pressure in infants.
Treatment focuses on electrolytes: Replacing lost sodium, potassium, and chloride is key to preventing complications.
Every case is unique: Don’t assume your child’s experience will be the same as others—work closely with your doctor.

Talk to Your Doctor

If you’re concerned about your child’s symptoms (or if you have a family history of Bartter syndrome), talk to your pediatrician. They can run simple blood and urine tests to check for electrolyte imbalances and refer you to a specialist if needed.

Remember: Early intervention saves lives. This baby’s story is proof that even rare conditions can be managed successfully with the right care.

This article is based on a case report published in SAGE Open Medical Case Reports (2024). The patient’s identity was anonymized to protect privacy.

A Bartter Syndrome Story: What We Learned from a 3-Month-Old’s Journey