Document Details

Document Type : Article In Journal 
Document Title :
Mitochondrial cytopathy presenting with features of Gitelman’s syndrome
Mitochondrial cytopathy presenting with features of Gitelman’s syndrome
 
Document Language : English 
Abstract : Mitochondria are essential for the homeostasis of every cell except red blood cells.1 Therefore, mitochondrial disorders cause a wide range of clinical presentations; however, organs with higher aerobic metabolism tend to be more severely affected.1 These symptoms, although severe, can be non-specific. Gitelman syndrome (GS) is a primary renal tubular disorder with hypokalemic metabolic alkalosis, hypocalciuria, and magnesium deficiency.2 Gitelman et al described it in 1966, in 3 female patients, 22- 47 years old. It is more typical of adults and age at presentation is usually 5 years or more. Failure to thrive and short stature has been described occasionally, and it could be included as an association.3 However, recently 3 cases of GS and growth hormone (GH) deficiency were reported,4,5 and considered as a new phenotype of GS with a new complex hereditary renal-tubular-pituitary syndrome.5 We report another case of GS that was associated with GH deficiency, partial adrenocortical hormone (ACTH) deficiency, and mitochondrial encephalopathy 
ISSN : 1658-3183 
Journal Name : Neurosciences 
Volume : 11 
Issue Number : 2 
Publishing Year : 1426 AH
2006 AD
 
Article Type : Short Note 
Added Date : Wednesday, April 9, 2008 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
جميلة قاريKari, Jameela InvestigatorDoctorate 
حماد الشايعAlshaya, Hammad ResearcherDoctorate 
محمد جانJan, Mohammed ResearcherDoctorate 
عبدالمعين الأغاAl-Agha, AbdulMoein ResearcherDoctorate 

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