Eagle-Barrett Syndrome Katherine Munier, MS, NNP-BC

Children’s Hospital Colorado, Anschutz Medical Campus, CO

An Overview Fluid & Electrolyte Balance A Case Study Pathogenicity

Eagle-Barret Syndrome (Prune-Belly Syndrome) is Kidney Function The kidneys maintain fluid A 2.925kg male born at 35 weeks completed a rare congenital anomaly, thought to be caused by balance in the body. The renal medulla is integral gestational age (GA) via induced vaginal delivery. urethral outlet obstruction in early development. It to the urine concentration process. In response to This pregnancy was complicated by fetal bladder consists of a characteristic clinical triad: abdominal dehydration, the kidneys concentrate urine. In the outlet obstruction, and oligohydramnios. History is wall musculature deficiency, urinary tract presence of fluid overload, urine is diluted.1 significant for methamphetamine use, production, abnormalities, and cryptorchidism. Not all cases and distribution. Mother states she has been sober present with all three findings; additionally, the Sodium (Na+) Reference Range 134-144 mmol/L for over 8 months. Maternal urine toxicology and severity may vary.3 Serum [Na+] reflects total body water and Na+ meconium toxicology negative. balance In addition, congenital cardiac, pulmonary, At birth: the infant presented with Apgar scores of gastrointestinal, and orthopedic malformations can 8/9. At 6 minutes of life his heart rate was greater Potassium (K+) 4.1-5.3 mmol/L be appreciated in many Eagle-Barrett syndrome than 100; however, central cyanosis, gasps, and Serum [K+] is a function of internal (distribution of cases—some of which may have precipitated from retractions were present. He received continuous 3 K+ across cell membranes) and external (body) K+ an oligohydramnios sequence. positive airway pressure (CPAP) for 10 minutes, balance; impaired renal K+ excretion leads to Congenital abnormalities of the kidney and urinary and was then intubated and given surfactant. He tract disorders largely occur sporadically, clarity hyperkalemia, which may worsen with acidosis. was admitted to the neonatal intensive care unit regarding the pathologic process has yet to be (NICU). Chloride (Cl-) 96-110 mmol/L achieved. Recently, studies are revealing a genetic component for disorders including Eagle Barrett Assessment: exam concerning for Eagle-Barrett syndrome, renal dysplasia.3 Bicarbonate (HCO3) 2-16 mg/dL Syndrome (prune belly syndrome). Facies HCO3 is wasted as Na+ reabsorption decreases to appeared flattened, consistent with known history Incidence: 1 in 35,000 live births, in > 95% occurring clear excess NaCl; capacities of the collecting duct of oligohydramnios. Abdomen soft, distended, in boys.3 to secrete hydrogen ions (H+) and the proximal protuberant, and wrinkled with poor abdominal wall tubule to make ammonium to buffer secreted H+ musculature; visible bowel loops, reducible hernia are limited; thus, the capacity to correct metabolic on right; mass palpated in lower abdomen, likely a acidosis is limited. distended bladder. Undescended testicles bilaterally. References BUN 2-16 mg/dL Reflects hydration, amino acid oxidation, renal 1. López, J.I., Larrinaga, G., Kuroda, N., & Angulo, J. C. (2015). The normal and pathologic renal medulla: A comprehensive overview. Pathology - function, energy intake, and illness acuity Prognosis Research & Practice, 211(4), 271-280. doi:10.1016/j.prp.2014.12.009 2. Lorenz, J., & Weng, P.L. (2014). Fluid, Electrolyte, Acid-Base, and Renal- Creatinine (Cr) 0.14-0.52 mg/dL Development Physiology and Disorders. In R.A. Polin, & A.R. Spitzer (Eds.), After the neonatal period, the child may require Fetal and Neonatal Secrets. (181-218). Philadelphia, PA: Saunders. Serum [Cr] is used to monitor renal function in the surgical repair for reflux, abdominal wall newborn; isolated values exceeding 0.5 mg/dL 3. Vogt, B.A., & Macrae, D. K. (2015). The Kidney and Urinary Tract of the reconstruction, orchiopexy, dialysis, and/or kidney Neonate. In R.J. Martin, A.A. Fanaroff, & M.C. Walsh (Eds.), Fanaroff and 2 generally indicate renal failure. transplant.3 Martin’s Neonatal-Perinatal Medicine: Diseases of the Fetus and Infant (1676- 1699). Philadelphia, PA: Saunders.