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Journal of the American Society of... Nov 2023Several recent studies identified mitochondrial mutations in patients with Gitelman or Fanconi syndrome. Mitochondrial cytopathies are generally not considered in the...
SIGNIFICANCE STATEMENT
Several recent studies identified mitochondrial mutations in patients with Gitelman or Fanconi syndrome. Mitochondrial cytopathies are generally not considered in the diagnostic workup of patients with electrolyte disorders. In this systematic review, we investigated the presence of electrolyte disorders in patients with mitochondrial cytopathies to determine the relevance of mitochondrial mutation screening in this population. Our 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. Further prospective cohort studies are required to determine the exact prevalence of electrolyte disorders in mitochondrial cytopathies.
BACKGROUND
Electrolyte reabsorption in the kidney has a high energy demand. Proximal and distal tubular epithelial cells have a high mitochondrial density for energy release. Recently, electrolyte disorders have been reported as the primary presentation of some mitochondrial cytopathies. However, the prevalence and the pathophysiology of electrolyte disturbances in mitochondrial disease are unknown. Therefore, we systematically investigated electrolyte disorders in patients with mitochondrial cytopathies.
METHODS
We searched PubMed, Embase, and Google Scholar for articles on genetically confirmed mitochondrial disease in patients for whom at least one electrolyte is reported. Patients with a known second genetic anomaly were excluded. We evaluated 214 case series and reports (362 patients) as well as nine observational studies. Joanna Briggs Institute criteria were used to evaluate the quality of included studies.
RESULTS
Of 362 reported patients, 289 had an electrolyte disorder, with it being the presenting or main symptom in 38 patients. The average number of different electrolyte abnormalities per patient ranged from 2.4 to 1.0, depending on genotype. Patients with mitochondrial DNA structural variants seemed most affected. Reported pathophysiologic mechanisms included renal tubulopathies and hormonal, gastrointestinal, and iatrogenic causes.
CONCLUSIONS
Mitochondrial diseases should be considered in the evaluation of unexplained electrolyte disorders. Furthermore, clinicians should be aware of electrolyte abnormalities in patients with mitochondrial disease.
Topics: Humans; Mitochondrial Myopathies; Kearns-Sayre Syndrome; Mitochondrial Diseases; Mitochondria; DNA, Mitochondrial; Water-Electrolyte Imbalance
PubMed: 37678265
DOI: 10.1681/ASN.0000000000000224 -
Zeitschrift Fur Rheumatologie Feb 2024The objectives of this study are to analyze the association between anti-mitochondrial antibody (AMA) and cardiac involvement in idiopathic inflammatory myopathy (IIM)... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
The objectives of this study are to analyze the association between anti-mitochondrial antibody (AMA) and cardiac involvement in idiopathic inflammatory myopathy (IIM) and to evaluate the diagnostic value of AMA for cardiac involvement in IIM patients.
METHODS
We conducted a comprehensive search in PubMed, Web of Science, EMBASE, and the Cochrane Library to identify English-language studies published before November 19, 2021. Stata 12.0 software (Stata Corp., College Station, TX, USA) was used for the statistical analyses. We used the sensitivity, specificity, positive likelihood ratio (PLR), negative likelihood ratio (NLR), and summary receiver operating characteristic (SROC) curve to evaluate the diagnostic value of AMA for cardiac involvement in IIM patients. Statistical heterogeneity of studies was assessed using the I statistic with 95% confidence intervals (95% CIs).
RESULTS
Seven studies were included in the final analyses, with a total of 2308 IIM patients (including 171 AMA-positive and 2137 AMA-negative patients). The pooled sensitivity of AMA for cardiac involvement in IIM patients was 0.29 (95% CI: 0.19-0.43) and specificity was 0.92 (95% CI: 0.88-0.96). The pooled PLR was 3.9 (95% CI: 2.82-5.38), NLR was 0.76 (95% CI: 0.66-0.88), and the diagnostic odds ratio (DOR) was 5 (95% CI: 3-7). The area under the SROC curve was 0.76 (95% CI: 0.72-0.79).
CONCLUSION
The overall diagnostic value of AMA may not be very high for cardiac involvement in IIM patients.
Topics: Humans; ROC Curve; Myositis; Sensitivity and Specificity
PubMed: 35575829
DOI: 10.1007/s00393-022-01216-2