Abstract
Clinical practice for evaluating uncommon conditions frequently follows care pathways established by a combination of tradition, local convention, best reasoning from pathophysiologic knowledge, expert opinion, and trade-offs of testing cost and invasiveness with the potential knowledge to be gained and the risk of missing actionable information—among other considerations. Therefore, data to better inform clinical decision making in uncommon conditions is most welcome. In this volume of The Journal, Hansen et al investigate the prevalence of nephrocalcinosis in children with pseudohypoparathyroidism (PHP), a clinical question that has not been systematically examined. Their retrospective review expands upon previous data indicating the risk for nephrocalcinosis should theoretically be low due to selective imprinting differences of the GNAS gene in different portions of the nephron. Their study suggests that routine screening for nephrocalcinosis in PHP may not be necessary allowing for better use of patient and healthcare system resources. Article page 263 ▶ Prevalence of Nephrocalcinosis in Pseudohypoparathyroidism: Is Screening Necessary?The Journal of PediatricsVol. 199PreviewThe prevalence of nephrocalcinosis in persons with pseudohypoparathyroidism has not been systematically examined. We conducted a retrospective study of renal imaging and biochemical results in 19 patients with pseudohypoparathyroidism with 49 imaging assessments. No cases of nephrocalcinosis were identified. Routine screening for nephrocalcinosis in pseudohypoparathyroidism may not be necessary. Full-Text PDF
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