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When should a nephrologist suspect a mitochondrial disease?
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia
|January 23, 2015
Summary
Mitochondrial diseases, affecting the respiratory chain and oxidative phosphorylation, can cause rare kidney problems like Fanconi syndrome or focal segmental glomerulosclerosis. Early diagnosis in nephrology is crucial for appropriate patient management.
Area of Science:
- Mitochondrial diseases and their impact on renal function.
- Rare genetic disorders affecting cellular respiration.
Background:
- Mitochondrial diseases, particularly those impacting the respiratory chain (RC) and mitochondrial oxidative phosphorylation system (OXPHOS), are a frequent category of rare diseases.
- These conditions often present with multisystemic involvement, diverse phenotypes, and complex genetic underpinnings.
- Renal involvement is infrequent but significant, primarily affecting the tubules (proximal portion) leading to Fanconi syndrome, or the glomerulus, causing focal segmental glomerulosclerosis (FSGS).
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