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Document Type |
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Article In Journal |
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Document Title |
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Mitochondrial cytopathy presenting with features of Gitelman’s syndrome Mitochondrial cytopathy presenting with features of Gitelman’s syndrome |
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Document Language |
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English |
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Abstract |
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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 |
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ISSN |
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1658-3183 |
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Journal Name |
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Neurosciences |
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Volume |
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11 |
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Issue Number |
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2 |
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Publishing Year |
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1427 AH
2006 AD |
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Article Type |
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Short Note |
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Added Date |
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Monday, March 31, 2008 |
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Researchers
| جميلة قاري | Kari, Jameela | Investigator | Doctorate | |
| حماد الشايع | Alshaya, Hammad | Researcher | Doctorate | |
| عبدالمعين الأغا | Al-Agha, Abdulmoein | Researcher | Doctorate | |
| محمد جان | Jan, Mohammed | Researcher | Doctorate | |
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Files
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Mitochondrial_Cytopathy.pdf
| pdf | مشاهدة المقالة العلمية كاملة |
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