Renal involvement in mitochondrial cytopathies
نویسندگان
چکیده
منابع مشابه
Renal Mitochondrial Cytopathies
Renal diseases in mitochondrial cytopathies are a group of rare diseases that are characterized by frequent multisystemic involvement and extreme variability of phenotype. Most frequently patients present a tubular defect that is consistent with complete De Toni-Debré-Fanconi syndrome in most severe forms. More rarely, patients present with chronic tubulointerstitial nephritis, cystic renal dis...
متن کاملNeurological mitochondrial cytopathies.
The mitochondrial cytopathies are genetically and phenotypically heterogeneous group of disorders caused by structural and functional abnormalities in mitochondria. To the best of our knowledge, there are very few studies published from India till date. Selected and confirmed fourteen cases of neurological mitochondrial cytopathies with different clinical syndromes admitted between 1997 and 200...
متن کاملCommentary: Human mitochondrial cytopathies.
Mitochondria provide energy (ATP) for all eukaryotic cells except mature erythrocytes and keratinocytes. They are abundant in cells that expend much energy, such as muscle, exocrine pancreas, nervous system, and heart cells, and motile sperm. Many mitochondrial enzymes are encoded by nuclear DNA and imported into the mitochondria. Like bacteria, mitochondria possess their own DNA and ribosomes....
متن کاملMitochondrial cytopathies, phenotypic heterogeneity and a high incidence.
Mitochondrial respiratory chain disorders account for significant and varied presentations in paediatric practice. The true prevalence of these disorders in the paediatric population is still not well documented with predicted geographic variation. We report a retrospective analysis over a seven year period of cases presenting to a tertiary care centre and associated clinical features. The over...
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ژورنال
عنوان ژورنال: Pediatric Nephrology
سال: 2011
ISSN: 0931-041X,1432-198X
DOI: 10.1007/s00467-011-1926-6