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Echogenic Kidneys as an Antenatal Clue to the Metabolic Etiology: A Case Report
- Source :
- Journal of Fetal Medicine. :95-97
- Publication Year :
- 2019
- Publisher :
- Georg Thieme Verlag KG, 2019.
-
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.
- Subjects :
- 0301 basic medicine
medicine.medical_specialty
Pediatrics
030219 obstetrics & reproductive medicine
business.industry
Reproductive medicine
Prenatal diagnosis
030105 genetics & heredity
medicine.disease
03 medical and health sciences
0302 clinical medicine
Inborn error of metabolism
Modeling and Simulation
Polycystic kidney disease
Etiology
Medicine
Echogenic kidneys
Carnitine palmitoyltransferase II deficiency
Subsequent pregnancy
business
Subjects
Details
- ISSN :
- 23488859 and 23481153
- Database :
- OpenAIRE
- Journal :
- Journal of Fetal Medicine
- Accession number :
- edsair.doi...........40c16a923bb502977c2bc8bc76e665be