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Heavy Metal Burden Presenting As Bartter Syndrome Walter J Environmental Medicine amr Case Report: Heavy Metal Burden Presenting as Bartter Syndrome Walter J. Crinnion, ND; Jessica Q. Tran, ND Abstract type 1 is associated with the gene SLC12A1 CONTEXT: Maternal transfer of heavy metals during fetal encoding a sodium-potassium-chloride cotrans- development or lactation possibly contributed to the clinical porter (NKCC2) expressed in the thick ascending manifestations of Bartter syndrome and developmental delay limb of the loop of Henle. A mutation of this gene in the offspring. CASE PRESENTATION: An 11-month-old child will cause a defect of the sodium-potassium-chlo- diagnosed with Bartter syndrome and failure to thrive was ride exchange protein in the ascending loop of treated concurrently for elevated metal burden while he was Henle.3 Bartter syndrome type 2 is described as a undergoing standard medical interventions. Treatment with mutation in the potassium channel gene ROMK, body-weight doses of meso-2,3-dimercaptosuccinic acid also known as KCNJ1. This gene is believed to be a (DMSA) reduced the body burden of lead, beryllium, copper, regulator of cotransporter activity and is an mercury, and cadmium at the three- and sixth-month ATP-sensitive potassium channel that reprocesses follow-up tests. During the course of the six-month treatment, reabsorbed potassium back to the tubule lumen. the patient gained 2.4 kg (5.2 lb) and grew approximately 9.5 Bartter syndrome type 3 (classic form) is caused by cm (3.75 in). His weight shifted from significantly below the a mutation in the kidney chloride channel B gene 5th percentile in weight to within the 5th percentile, and from (CLCNKB) or with a simultaneous mutation in the Jessica Q. Tran, ND – Clinical below the 5th to within the 10th percentile for length. CLCNKA gene. Infantile Bartter syndrome with faculty, Department of DISCUSSION: The child’s acquisition of lead, beryllium, and sensorineural deafness, or type 4, is caused by a Environmental Medicine, 2,4-6 Southwest College of copper correspond to his mother’s history of stained glass mutation in the Barttin (BSND) gene. Several Naturopathic Medicine & assembly and occurred during fetal development or lactation, genes have been associated with the different Health Sciences, Tempe, AZ. since there were no other identifiable sources that could have phenotypic varieties of Bartter syndrome.4-6 The Correspondence address: Southwest College of contributed to the heavy metal burden. Tests for known neonatal and infantile form of Bartter syndrome is Naturopathic Medicine & genetic mutations leading to Bartter syndrome were all rare and includes these additional features: Health Sciences, 2140 East negative. RELEVANCE TO CLINICAL PRACTICE: This case report polyhydramnios, premature delivery, growth Broadway Road, Tempe, AZ 7,8 85282 highlights the potential benefit of DMSA for treatment of retardation, hypercalciuria, nephrocalcinosis, and Email: [email protected] heavy metal body burden in infants who present with Bartter systemic overproduction of prostaglandins syndrome. (Altern Med Rev 2010;15(4):303-310) – hyperprostaglandin E syndrome (HPE).9,10 Walter Crinnion, ND – 1982 graduate of Bastyr This case report describes an 11-month-old male University; practice since Introduction infant clinically diagnosed with Bartter syndrome 1982 with a special focus on Bartter syndrome is a genetic disorder that is who tested positive for elevated fecal levels of lead, treating chronic diseases caused by environmental comprised of various genetic mutations that lead beryllium, and copper, along with detectable levels toxic burden; conducts to a renal electrolyte imbalance. First described in of mercury and cadmium. He responded well to post-graduate seminars in 1962, Bartter syndrome consists of four forms oral chelation with meso-2,3-dimercaptosuccinic environmental medicine; professor and chair of the characterized by hypokalemic metabolic alkalosis, acid (DMSA). His Bartter syndrome presentation, Environmental Medicine hyperaldosteronism, and juxtaglomerular appara- characterized by failure to thrive, dehydration, Program, Southwest College tus hyperplasia in the presence of normal blood hypokalemia, alkalosis, and a very high urinary of Naturopathic Medicine, 1 Tempe, AZ; contributing pressure, and includes an array of molecular and excretion of prostaglandin E2, improved signifi- editor, Alternative Medicine genetic influences that impair sodium chloride cantly as his heavy metal levels declined. Review transport in the renal system.2 Bartter syndrome 303 Alternative Medicine Review Volume 15, Number 4 Copyright © 2010 Alternative Medicine Review, LLC. All Rights Reserved. No Reprint Without Written Permission. amr Environmental Medicine Case Presentation (normal: 133-145 mmol/L), potassium 2.2 (normal: Key words: Bartter syndrome, heavy metal, toxic The patient, a Caucasian male, was born at 40 3.6-5.2 mmol/L), chloride 78 (normal: 98-108 metal, DMSA, mercury, lead, weeks gestation to non-consanguineous parents. mmol/L), and bicarbonate 40 (normal 17-27 beryllium, copper, cadmium, He was the first child of a 28-year-old woman mmol/L). An ultrasound of the kidneys showed no developmental delay, failure to thrive (G1P1) and a 33-year-old man. The pregnancy was calcifications, and a sweat chloride test was uncomplicated, routine prenatal visits were negative. An auditory brainstem response evalua- unremarkable, and ultrasound performed at 22 tion revealed normal auditory thresholds in the weeks gestation revealed no abnormalities. The 500-8,000 Hz range bilaterally. Synchrony of the child was birthed naturally at home by a midwife auditory system throughout the brainstem was without complications. His birth weight (3.97 kg; 8 normal. lb, 12 oz), length (54 cm; 21.25 in), and head The child was initially treated with IV fluids and circumference were all within the 75th percentile normal saline with 40 mEq of potassium chloride (Table 1). per liter. He remained in the hospital for 11 days At the first week follow-up, the patient’s weight and was monitored closely. Daily weight improve- was the same as his birth weight. All reflexes were ments of about 0.08-0.175 kg were recorded, and at normal and physical examination revealed a discharge he weighed 5.13 kg (11.3 lb). He was healthy baby. He was being breast fed and demon- discharged on a daily regimen of 32 ounces of strated proper latch technique. At this visit both formula mixed with 1 teaspoon of Celtic sea salt his weight and length decreased from the 75th to and 10 mL potassium chloride, 2.5 mg indometha- the 25th percentiles. Although the patient did not cin, and 5 mg spironolactone (the latter twice gain weight at the first month follow-up, the child’s daily). pediatrician was not alarmed because no abnor- At nine months, the patient’s weight was 6.7 kg malities were detected and the child was exclusively (14.8 lb) and length was 66.7 cm (26.25 in), both breast fed. below the 5th percentile. His head circumference At the three-month follow-up, there was little was 44 cm, which placed him between the 10th and improvement in growth and weight gain. On exam, the patient was agitated and feeding poorly. The child’s pediatrician Table 1. Growth Measurements from Birth to 18 Months introduced formula feeding in conjunc- tion with breast feeding to encourage weight gain. The serum potassium levels Age Weight (kg) Length (cm) Head Circumference (cm) were within reference range (although the specimen was hemolyzed, making Birth 3.97 54 <75th percentile accuracy questionable). At age 4.5 months, the child was 1 week 3.97 54 NA admitted to the local Children’s Hospital to evaluate for developmental delay and 1 month 3.97 54 NA failure to thrive. His weight on admis- sion was 4.5 kg (9.8 pounds), placing him 3 months 4.5 NA NA below the 5th percentile (-4.2 standard deviations below the mean); his length 4.5 months 4.5 59.5 40.5 was 59.5 cm, which was below the 5th percentile for his age (-2.9 standard 9 months 6.7 66.7 44 deviations below the mean); and his head circumference measured 40.5 cm (below 11 months 6.8 67.9 NA the 5th percentile and -2.1 standard deviations below the mean). He was 12 months 7.3 68.6 44.5 diagnosed with Bartter syndrome after a nonhemolyzed sample of blood revealed 13 months 8.1 NA NA a critically low serum potassium level and evidence of hypercalciuria, with 14 months 8.6 71.1 NA urine calcium:creatinine ratios in the 3.5 to 4.1 range. The initial electrolyte 17 months 9.2 77.5 47 abnormalities included sodium 124 Volume 15, Number 4 Alternative Medicine Review 304 Copyright © 2010 Alternative Medicine Review, LLC. All Rights Reserved. No Reprint Without Written Permission. Environmental Medicine amr 25th percentile. He was responding to his own collected on different days and sent to Doctor’s name, understanding and speaking a few words Data, Inc. (DDI) laboratory (St. Charles, IL) for without meaning, and able to roll on his side. The heavy metal analysis. The level of lead was 1.68 mg/ patient attended routine follow-up visits with the kg (reference range <0.50), beryllium 0.036 mg/kg nephrologist and registered dietician. At least twice (reference range <0.009), and copper 100 mg/kg a month his parents needed to take him to the (reference range <60) (Table 2). Heavy metals emergency department for a variety of conditions, present in the sample, but not above the lab’s including dehydration, recurrent emesis, constipa- normal reference ranges, included mercury at 0.017 tion, and seizures. His medications at this point mg/kg (reference range <0.05) and cadmium at 0.08 included 2 tablespoons of sodium chloride per 32 mg/kg (reference range <0.50). The laboratory ounces of formula, 80 mL potassium chloride daily, reference ranges placed lead and beryllium above 5 mg indomethacin twice daily, 10 mg spironolac- the 95th percentile and copper near the 90th tone twice daily, 1 mg amiloride daily, and 1 g percentile.
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