Salt and mineral disturbances are common in mitochondrial disease

Last year, a team of Radboudumc researchers identified mutations in the mitochondrial DNA as cause for Gitelman syndrome, a rare kidney disorder of disturbed potassium and magnesium reabsorption in the kidney (see article 'Genetic mutations cause severe magnesium deficiency'). As a consequence, more patients with Gitelman syndrome now receive the correct diagnosis.

Daan Viering, Jeroen de Baaij and René Bindels of the department of Medical BioSciences and Jaap Deinum of the department of Internal Medicine now demonstrate that the mitochondrial defects are a more common cause of renal electrolyte disorders. The results were published (ahead of print) in the prestigious Journal of the American Society of Nephrology (JASN).  Systematically evaluated the literature and included 362 patients (from 214 case reports) in the analysis. Of 362 reported patients, 289 had an electrolyte disorder, with it being the presenting symptom in 38 patients.

Currently, mitochondrial defects are generally not considered in the diagnostic workup of patients with electrolyte disorders. In the systematic review, they investigated the presence of electrolyte disorders in patients with mitochondrial cytopathies to determine the relevance of mitochondrial mutation screening in this population. The analysis demonstrates that electrolyte disorders are commonly reported in mitochondrial cytopathies, often as presenting symptoms. Consequently, more clinical attention should be raised for mitochondrial disease as cause for disturbances in electrolyte homeostasis. Based on these findings, they suggest to include mitochondrial DNA screening in the genetic testing of patients with electrolyte disturbances.