Chronic kidney disease in TARS2-related mitochondrial disease – A case report

Chronic kidney disease in TARS2-related mitochondrial disease – A case report

This case report describes a patient harboring TARS2 mutations where chronic kidney disease stands out as the predominant clinical feature. The distinct manifestation observed in this case underscores the importance of continual exploration and documentation of diverse clinical presentations associa...

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Bibliographic Details
Published in:Global pediatrics Vol. 8; p. 100145
Main Authors: Paripović, Aleksandra, Stajić, Nataša, Putnik, Jovana, Ostojić, Slavica, Alimpić, Biljana, Sarajlija, Adrijan
Format: Journal Article
Language:English
Published: Elsevier Inc 01-06-2024
Elsevier
Subjects:
Chronic kidney disease
Mitochondrial disease
TARS2 mutation
Mitochondrial disease
Chronic kidney disease
TARS2 mutation
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Description
Summary:This case report describes a patient harboring TARS2 mutations where chronic kidney disease stands out as the predominant clinical feature. The distinct manifestation observed in this case underscores the importance of continual exploration and documentation of diverse clinical presentations associated with TARS2 mutations, contributing to an enriched comprehension of the spectrum of effects linked to this genetic variation
ISSN:2667-0097
2667-0097
DOI:10.1016/j.gpeds.2024.100145