Mitochondrial DNA mutations in renal disease: an overview.
Pediatr Nephrol
; 36(1): 9-17, 2021 01.
Article
in En
| MEDLINE
| ID: mdl-31925537
ABSTRACT
Kidneys have a high energy demand to facilitate the reabsorption of the glomerular filtrate. For this reason, renal cells have a high density of mitochondria. Mitochondrial cytopathies can be the result of a mutation in both mitochondrial and nuclear DNA. Mitochondrial dysfunction can lead to a variety of renal manifestations. Examples of tubular manifestations are renal Fanconi Syndrome, which is often found in patients diagnosed with Kearns-Sayre and Pearson's marrow-pancreas syndrome, and distal tubulopathies, which result in electrolyte disturbances such as hypomagnesemia. Nephrotic syndrome can be a glomerular manifestation of mitochondrial dysfunction and is typically associated with focal segmental glomerular sclerosis on histology. Tubulointerstitial nephritis can also be seen in mitochondrial cytopathies and may lead to end-stage renal disease. The underlying mechanisms of these cytopathies remain incompletely understood; therefore, current therapies focus mainly on symptom relief. A better understanding of the molecular disease mechanisms is critical in order to improve treatments.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Mutation
Limits:
Humans
Language:
En
Journal:
Pediatr Nephrol
Journal subject:
NEFROLOGIA
/
PEDIATRIA
Year:
2021
Document type:
Article
Affiliation country: