title: Four-month-old infant with focal segmental glomerulosclerosis and mitochondrial DNA deletion.
abstract: Mitochondrial cytopathies are a group of heterogeneous disorders characterized by multisystem involvement. Renal involvement in mitochondrial cytopathies is usually manifested as tubular dysfunction owing to impaired energy metabolism; however, a few cases with glomerular changes have also been reported. Herein we report the case of a 4-month-old Turkish girl with a mitochondrial DNA deletion and focal segmental glomerulosclerosis.
authors.affiliation: Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Sule
authors.initials: S
authors.lastname: Unal
authors.forename: H Serap
authors.initials: HS
authors.lastname: Kalkanoğlu
authors.forename: Cetin
authors.initials: C
authors.lastname: Kocaefe
authors.forename: Safak
authors.initials: S
authors.lastname: Gucer
authors.forename: Seza
authors.initials: S
authors.lastname: Ozen
authors.forename: Guzide
authors.initials: G
authors.lastname: Turanli
authors.forename: Turgay
authors.initials: T
authors.lastname: Coskun
mesh_terms: D004247:DNA / Q000032:analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D005923:Glomerulosclerosis, Focal Segmental / Q000235:genetics*; D006801:Humans; D007223:Infant; D014421:Turkey
chemical_list: D004272:DNA, Mitochondrial; D004247:DNA