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CC BY-NC-ND 4.0 · Journal of Fetal Medicine 2019; 06(02): 95-97
DOI: 10.1007/s40556-019-00200-2
Brief Communication

Echogenic Kidneys as an Antenatal Clue to the Metabolic Etiology: A Case Report

Sakshi Yadav
1   Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, 110029, New Delhi, India
,
Madhulika Kabra
1   Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, 110029, New Delhi, India
,
Neerja Gupta
1   Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, 110029, New Delhi, India
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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.

Keywords

Echogenic kidneys - Carnitine palmitoyltransferase II deficiency - Next generation sequencing


Publication History

Received: 28 February 2019

Accepted: 29 April 2019

Article published online:
08 May 2023

© 2019. Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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