Four-month-old infant with focal segmental glomerulosclerosis and mitochondrial DNA deletion.
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.
Unal
Sule
S
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Kalkanoğlu
H Serap
HS
Kocaefe
Cetin
C
Gucer
Safak
S
Ozen
Seza
S
Turanli
Guzide
G
Coskun
Turgay
T
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
D004272:DNA, Mitochondrial; D004247:DNA