Case report: heavy metal burden presenting as Bartter syndrome

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.

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.

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.

This case report highlights the potential benefit of DMSA for treatment of heavy metal body burden in infants who present with Bartter syndrome.