[Renal involvement in mitochondrial cytopathies].

Abstract:

:Mitochondrial disorders are genetic defects of oxidative phosphorylation. Oxidative phosphorylation takes place in the mitochondrial inner membrane and consists of the oxidation of fuel molecules by oxygen and the concomitant energy transduction into ATP. The mitochondrial respiratory chain is a complex metabolic pathway. It is made of approximately 100 polypeptides, most of which are encoded in the nucleus whereas 13 are encoded in the mitochondria. Mitochondrial DNA is maternally inherited and its mutations are transmitted by the mother. During cell division, mitochondria are randomly partitioned in daughter cells. Therefore, in case normal and mutant DNA are present in the mother's cells, some lineage may have only mutant mitochondrial DNA or normal mitochondrial DNA while others may have both mutant and normal DNA, a condition named heteroplasmy. Renal involvement in mitochondrial cytopathies is rare. Patients most often present with a more or less complete de Toni-Debré-Fanconi syndrome. A few patients present with a nephrotic syndrome or with chronic tubulointerstitial nephritis. The investigation of patients with mitochondrial disorders include metabolic screening for abnormal oxidoreduction status in plasma, investigation of the mitochondrial respiratory chain, including polarographic and spectrophotometric studies, histopathologic studies and genetic studies.

journal_name

Nephrol Ther

authors

Niaudet P

doi

10.1016/j.nephro.2012.10.004

subject

Has Abstract

pub_date

2013-04-01 00:00:00

pages

116-24

issue

2

eissn

1769-7255

issn

1872-9177

pii

S1769-7255(12)00542-1

journal_volume

9

pub_type

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