Mitochondrial tubulopathy: the many faces of mitochondrial disorders.
We report a rare presentation of mitochondrial disorder in a child with recurrent carpopedal spasms due to hypocalcemia and hypomagnesemia, secondary to renal proximal tubulopathy and possible hypoparathyroidism. At least two mutant mitochondrial DNA species were identified, and abnormal mitochondria were found in the muscle and renal biopsy specimens. The case illustrates the spectrum and diversity of mitochondrial presentations, arising because of heteroplasmy of mutations and the type of organs affected.
Lee
Y S
YS
Department of Pediatrics, National University of Singapore, Singapore. paeleeys@nus.edu.sg
Yap
H K
HK
Barshop
B A
BA
Lee
Y S
YS
Rajalingam
S
S
Loke
K Y
KY
D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics; D006801:Humans; D007674:Kidney Diseases / Q000209:etiology*; D007687:Kidney Tubules, Proximal / Q000503:physiopathology*; D028361:Mitochondrial Diseases / Q000150:complications*; D009154:Mutation
D004272:DNA, Mitochondrial