ESPE Abstracts

Case presentation: We present the case of a 6-year-old female patient with history of congenital salt-wasting adrenal hyperplasia (CAH) under treatment with hydrocortisone and fludrocortisone, who during the study of her urogenital sinus shows bilateral medullary nephrocalcinosis (NC) in the urethrocystography. The patient was born with a disorder of sex development, with apparently male genitalia, with a phallus and labioscrotal folds. Her karyotype is 46XX, and the imaging study shows uterus and ovary presents. Since newborn to date, the patient has been treated with hydrocortisone (10 mg/m2/day) and fludrocortisone (0.1 mg per day), she has evolved with an appropriate growth with stature in p5 according to her parents and no salt-wasting crisis and balanced 17 OH progesterone. During surgical evaluation for urogenital sinus NC is found during urethrocystography study. The nephrologist indicates a molecular study of NC. Renal ultrasound inform: Normosituated kidneys with normal size and thickness of the parenchyma with increased corticomedullary differentiation secondary to increased echogenicity of the marrows. Concordant with bilateral medullary NC.

Discussion: NC is defined as the presence of calcium (Ca) salt deposits in the renal parenchyma. The pediatric population is 5%. The etiologies are multiple, almost entirely involving a metabolic disorder, often of genetic and sometimes iatrogenic origin, that increases urinary excretion of calcium or oxalate, varying in frequency depending on age. At school age the main cause is distal tubular acidosis, hyperoxaluria and hypercalciuria of genetic origin. Although it’s a rare finding in patients with CAH, there is evidence in this group of patients that they can develop hypercalcemia, hypercalciuria, and or NC. The mechanism of NC in these patients is unclear, but can include increased bone resorption, increased gut absorption, or decreased glomerular filtration rate during adrenal crisis, leading to enhanced reabsorption of Ca. There are reports that show a positive relation of doses of glucocorticoid and fludrocortisone with serum Ca concentration.

Conclusion: Several studies show the association between hypercalciuria with NC in children with CAH, therefore Ca monitoring during routine CAH laboratory testing may be worthwhile, because these conditions may place children at risk for serious renal complications.