Maternally-inherited diabetes with deafness (MIDD) and hyporeninemic hypoaldosteronism

Mory, Patrícia B.; Santos, Márcia Costa Dos; Kater, Cláudio E.; Moises, Regina Celia Mello Santiago

doi:10.1590/s0004-27302012000800019

Cited by 9 publications

(2 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Other less frequently reported mechanisms include hyperkalemia and/or hyponatremia due to deficiencies of mineralocorticoids or glucocorticoids or renal resistance to them 13,27,28,38,[50][51][52][53][54][55][56][57][58][59][60][61][62] ; hyponatremia due to syndrome of inappropriate antidiuretic hormone secretion, cerebral salt wasting, hypovolemia, or heart failure 28,[63][64][65][66][67][68][69][70][71] ; and calcium disturbances due to rhabdomyolysis. 24,72,73 Nine studies describe treatment-related adverse events, such as electrolyte disturbances due to L-arginine, succinate, coenzyme Q10 or Calcium beta-hydroxybutyrate, and Sodium beta-hydroxybutyrate.…”

Section: Evidence For Specific Pathophysiologic Mechanismsmentioning

confidence: 99%

Electrolyte Disorders in Mitochondrial Cytopathies: A Systematic Review

Viering,

Vermeltfoort,

Bindels

et al. 2023

JASN

View full text Add to dashboard Cite

Background: Electrolyte reabsorption in the kidney has a high energy demand. Proximal and distal tubular epithelial cells therefore 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 9 observational studies. Joanna Briggs Institute criteria were used to evaluate quality of included studies. Results: Of 362 reported patients, 289 had an electrolyte disorder, with, the disorder 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 pathophysiological 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 mitochondrial disease patients.

show abstract

Section: Evidence For Specific Pathophysiologic Mechanismsmentioning

confidence: 99%

Electrolyte Disorders in Mitochondrial Cytopathies: A Systematic Review

Viering,

Vermeltfoort,

Bindels

et al. 2023

JASN

View full text Add to dashboard Cite

show abstract

“…In the two cases tested, adrenal antibodies were negative. There have been case reports of children with MELAS due to m.3243A>G, m.12015T>C, or m.8344A>G who had adrenal insufficiency [61][62][63]. In addition, both adrenal insufficiency and mitochondrial dysfunction are associated with several nuclear genes involved in steroidogenesis and steroid metabolism (TR4, STAR, CYP11A1), as well as genes involved in complex I assembly or mitochondrial protein import (NDUFAF5, MRPS7, QRSL1, GFER) [44].…”

Section: Adrenal Insufficiencymentioning

confidence: 99%

Endocrine features of primary mitochondrial diseases

Romo,

Gold,

Walker

2023

Current Opinion in Endocrinology, Diabetes &Amp; Obesity

View full text Add to dashboard Cite

Purpose of review Primary mitochondrial diseases are one of the most prevalent groups of multisystem genetic disorders. Endocrinopathies associated with mitochondrial diseases may have clinical features that are distinct from the more common forms. We provide an overview of mitochondrial disorder genetics and phenotypes, focusing on recent studies regarding identification and treatment of associated endocrinopathies. Recent findings Known endocrine phenotypes of mitochondrial disorders continue to expand, and now include growth hormone deficiency, hypogonadism, precocious puberty, hypoparathyroidism, hypo- and hyperthyroidism, diabetes, and adrenal insufficiency. Recent studies suggest several genotype-phenotype correlations, including those related to nuclear variants. Diagnosis is important, as special considerations should be made in the management of endocrinopathies in mitochondrial patients. Finally, new mitochondrial replacement strategies may soon be available for women interested in preventing mitochondrial disease transmission to offspring. Summary Patients with multiple endocrinopathies or atypical endocrinopathies should be evaluated for primary mitochondrial disease, as a diagnosis may impact management of these individuals.

show abstract

Maternally Inherited Diabetes and Deafness (MIDD)

Simionescu

2023

Genetic Syndromes

View full text Add to dashboard Cite

Maternally-inherited diabetes with deafness (MIDD) and hyporeninemic hypoaldosteronism

Cited by 9 publications

References 29 publications

Electrolyte Disorders in Mitochondrial Cytopathies: A Systematic Review

Electrolyte Disorders in Mitochondrial Cytopathies: A Systematic Review

Endocrine features of primary mitochondrial diseases

Maternally Inherited Diabetes and Deafness (MIDD)

Contact Info

Product

Resources

About