12213 (705) Renal Pathophysiology and Bartter Syndrome in the Preterm Infant
Pat Hummel, MA NNP-BC PNP-BC

Abstract

STATED PURPOSE FOR THE SESSION: To provide information on renal physiology and antenatal Bartter Syndrome

BACKGROUND AND IMPORTANCE: Bartter Syndrome, is a rare autosomal recessive genetic disorder diagnosed in a preterm infant via clinical presentation and confirmed by DNA analysis. Bartter Syndrome is a set of related disorders that present with hypochloremia, hypokalemia, and metabolic alkalosis. Three main types of Bartter Syndrome are found; the antenatal form is the most severe, presenting with prematurity secondary to polyhydramnios, severe electrolyte wasting, and increased urinary calcium excretion leading to nephrocalcinosis and osteopenia. The antenatal form is also known as hyperprostaglandin-E syndrome. This renal tubular disorder involves the distal convoluted tubule, with impaired reabsorption of chloride, potassium, and calcium. Other features noted with this infant are sensorineural hearing loss and hydrocephalus. Diagnosis was complicated due to the infant’s preterm birth and severe bronchopulmonary dysplasia (BPD), which presents clinically with hypochloremia and hypokalemia due to diuretic therapies. The pathognomonic feature of this infant’s presentation was hypopnea. His respiratory rate was consistently 20-26 breaths/minute, atypical for an infant with BPD. His hypoventilation, with elevated pCO2 levels was compensatory for the metabolic alkalosis induced by his hypochloremia and hypokalemia.

DESCRIPTION OF WHAT WILL BE COVERED: A case study of the infant’s course is presented. Diagnosis, pathophysiology, treatment, and prognosis of Bartter Syndrome are outlined.

FUTURE DIRECTIONS: Continued research of Bartter Syndrome diagnosis and treatment options.

Learning Objectives
1. Describe renal physiology.
2. Explain renal tubular defects and describe Bartter syndrome pathophysiology.
3. Discuss Bartter syndrome diagnosis, treatment, and prognosis.

Bibliography
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