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Hemodynamic Precision in the Neonatal Intensive Care Unit using Targeted Neonatal Echocardiography
Published on: January 27, 2023
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Two neonates with Bartter syndrome.
Tehreem Afzal1, Sana Fatima1, Iqtada Haider Shirazi1
1Children hospital, Pakistan Institute of Medical Sciences, Islamabad.
JPMA. the Journal of the Pakistan Medical Association
|November 10, 2018
Summary
Neonatal Bartter syndrome, a genetic disorder causing electrolyte imbalances, presents unique challenges. Early diagnosis through antenatal visits is crucial, as treatment responses, like indomethacin, vary with coexisting conditions.
Area of Science:
- Genetics and rare diseases
- Pediatric nephrology
- Neonatal medicine
Background:
- Bartter syndrome is an autosomal recessive genetic disorder.
- Characterized by hypokalemia, hypochloremia, metabolic alkalosis, elevated renin, and hyperaldosteronism with normal blood pressure.
- It arises from specific gene mutations affecting renal salt reabsorption.
Observation:
- Two cases of neonatal Bartter syndrome are presented.
- Case 1: Non-consanguineous marriage, maternal polyhydramnios, responded to indomethacin.
- Case 2: Consanguineous marriage, Protein C and S deficiency, sepsis, expired.
Findings:
- Diagnosis confirmed by hypokalemia, hypochloremia, metabolic alkalosis, and elevated renin/aldosterone.
- Indomethacin showed efficacy in Case 1.
- Coexisting conditions in Case 2 complicated management and treatment.
Implications:
- Regular antenatal screening for unexplained polyhydramnios can aid early diagnosis.
- Timely diagnosis and management are critical for neonatal outcomes.
- Understanding genetic factors and comorbidities is key for effective treatment strategies.
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