Abstract
Antenatally diagnosed echogenic kidneys have several underlying etiologies such as aneuploidies, monogenic isolated or syndromic polycystic kidney disease, infections and rarely with inborn error of metabolism. Even a careful evaluation for additional abnormalities may not be able to provide a specific diagnosis. However with next generation sequencing, the diagnostic odyssey can be ended successfully. We report one such case of carnitine palmitoyltransferase II deficiency (CPT2) deficiency that manifested as isolated echogenic kidneys with early neonatal demise where successful early prenatal diagnosis was possible in the subsequent pregnancy.
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Yadav, S., Kabra, M. & Gupta, N. Echogenic Kidneys as an Antenatal Clue to the Metabolic Etiology: A Case Report. J. Fetal Med. 6, 95–97 (2019). https://doi.org/10.1007/s40556-019-00200-2
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DOI: https://doi.org/10.1007/s40556-019-00200-2