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Published on: March 23, 2022
Case report: heavy metal burden presenting as Bartter syndrome
Walter J Crinnion1, Jessica Q Tran
1Environmental Medicine Program, Southwest College of Naturopathic Medicine, Tempe, AZ, USA.
Insights
Meso-2,3-dimercaptosuccinic acid (DMSA) treatment effectively reduced heavy metal burden in an infant with Bartter syndrome. This intervention improved the child's weight and length percentiles, suggesting a potential therapeutic benefit.
Area of Science:
- Pediatric toxicology
- Environmental medicine
- Genetics
Background:
- Maternal heavy metal exposure during gestation or lactation may cause Bartter syndrome and developmental issues in infants.
- Genetic testing for Bartter syndrome was negative in the patient.
Observation:
- An 11-month-old infant presented with Bartter syndrome and failure to thrive.
- The infant had elevated levels of lead, beryllium, copper, mercury, and cadmium.
- The mother's history of stained glass assembly was identified as a potential source of exposure.
Findings:
- Treatment with meso-2,3-dimercaptosuccinic acid (DMSA) significantly reduced the infant's heavy metal body burden.
- Following DMSA treatment, the patient experienced substantial weight gain and improved length percentiles.
- The child's growth trajectory improved from below the 5th percentile to within the 5th-10th percentiles for weight and length.
Implications:
- This case suggests DMSA may be a beneficial treatment for heavy metal toxicity in infants diagnosed with Bartter syndrome.
- Early identification and chelation therapy can potentially mitigate adverse developmental outcomes associated with heavy metal exposure in infants.
- Highlights the importance of considering environmental exposures in the etiology of pediatric conditions.
Context:
Maternal transfer of heavy metals during fetal development or lactation possibly contributed to the clinical manifestations of Bartter syndrome and developmental delay in the offspring.
Case Presentation:
An 11-month-old child diagnosed with Bartter syndrome and failure to thrive was treated concurrently for elevated metal burden while he was undergoing standard medical interventions. Treatment with body-weight doses of meso-2,3-dimercaptosuccinic acid (DMSA) reduced the body burden of lead, beryllium, copper, mercury, and cadmium at the three- and sixth-month follow-up tests. During the course of the six-month treatment, the patient gained 2.4 kg (5.2 lb) and grew approximately 9.5 cm (3.75 in). His weight shifted from significantly below the 5th percentile in weight to within the 5th percentile, and from below the 5th to within the 10th percentile for length.
Discussion:
The child's acquisition of lead, beryllium, and copper correspond to his mother's history of stained glass assembly and occurred during fetal development or lactation, since there were no other identifiable sources that could have contributed to the heavy metal burden. Tests for known genetic mutations leading to Bartter syndrome were all negative.
Relevance To Clinical Practice:
This case report highlights the potential benefit of DMSA for treatment of heavy metal body burden in infants who present with Bartter syndrome.
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