Mitochondriapathies
Name of Principal Investigator and research fellow mentor: Teresa Cavero
Affiliation: MD at Hospital Universitario 12 de Octubre (Madrid)
Mitochondrial diseases are the most common congenital metabolic disorder in the population. They have an important peculiarity, which is that the functioning of the mitochondria depends on proteins expressed by both nuclear genes (Mendelian inheritance) and mitochondrial genes (maternal inheritance).
The main function of mitochondria is to provide energy to the cells for all their functions.
Mitochondrial diseases are serious and systemic diseases, in general, since all the mitochondria in the body
mitochondria in the body can be affected. The organs and systems with the highest oxygen consumption, such as muscles and brain, are the most commonly affected, and because of the relevance of their dysfunction receive the greatest focus in a patient with mitochondrial disease: weakness, fatigue, convulsions, seizures, weakness... are very serious affectations that can detract from the importance of other less expressive organic affectations. For this reason, and despite the fact that the kidney is also an organ with a high energy expenditure (especially at the level of the tubular cells), renal involvement is little studied and described in the literature.
Our project is designed from a multidisciplinary committee (Internal Medicine, Neurology, Biochemistry Laboratory specializing in Mitochondrial Diseases and Nephrology) of the Hospital 12 de Octubre Hospital. Our main objective,
taking advantage of the fact that the scientific community specializing in the field of mitochondrial diseases is making a great effort to improve the characterization of these diseases with a view to the development of new therapies, we believe that the nephrologist should also participate in this.
Renal involvement in these diseases can sometimes lead to the diagnosis of mitochondrial disease itself (as sometimes happens in MIDD: maternally inherited diabetes and deafness), to avoid unnecessary invasive procedures (renal biopsy) or even to avoid immunosuppressive treatments when an erroneous diagnosis is reached (segmental and focal glomerulosclerosis).
As secondary objectives we will study:
We will perform renal ultrasound, blood tests (biochemistry, blood count and blood venous gases) and urinalysis (eliminations of ions, urine systematic and sediment and albumin/creatinine and protein/creatinine ratios) to all patients undergoing follow-up at Hospital 12 de Octubre who are diagnosed with a mitochondrial disease (confirmed by genetic study)
Data Sources: HCP centre data
Data Elements: