Nidhi GuptaSGPGIMS, India
Title: Medullary nephrocalcinosis: The role of genetic analysis
Nephrocalcinosis (NC) is the augmented calcium content within the renal parenchyma.The presence of medullary NC provides a window to the clinician for the diagnosis of many important diseases.Not surprisingly, early childhood onset of stones and/or Nephrocalcinosis often has a genetic underpinning more frequently than in adults. In this case series, we highlight three diseases that has been diagnose with genetic analysis after their presentation as medullary NC in childhood. It has been observed, that patient spend millions of rupees for treatment of stone disease but less on its primary diagnosis. Hence, identifying a specific gene informs the pathway involved and throws light on the pathogenesis. This can facilitate targeted therapy and cut cost spend for recurrence of stone.
Nidhi Gupta has completed her internal medicine training at 28 years from PGI Rohtak India after completing her MBBS with one-year compulsory internship in 2015. She is working as senior resident in department of Nephrology and Renal transplant at SGPGIMS Lucknow. She is young nephrologist with enthusiasm.