COQ2 Nephropathy
| Autor: | Fiorella Piemonte, Francesca Diomedi-Camassei, Luisa Murer, Enrico Bertini, Francesco Emma, Giovanni Montini, Andrea Onetti Muda, Marialuisa Valente, Gianluca Caridi, Laura Barisoni, Silvia Di Giandomenico, Gian Marco Ghiggeri, Filippo M. Santorelli, Anna Pastore |
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| Rok vydání: | 2007 |
| Předmět: |
Male
Nephrology medicine.medical_specialty Pathology Mitochondrial Diseases Nephrotic Syndrome Ubiquinone Renal cortex Coenzymes Mutation Missense Respiratory chain Kidney urologic and male genital diseases mitocondriopatia renal disease coenzime Q10 deficiency Nephropathy Internal medicine medicine Humans Muscle Skeletal Alkyl and Aryl Transferases business.industry Acute kidney injury Infant General Medicine Acute Kidney Injury medicine.disease medicine.anatomical_structure Electron Transport Chain Complex Proteins business Nephrotic syndrome Kidney disease |
| Zdroj: | Journal of the American Society of Nephrology. 18:2773-2780 |
| ISSN: | 1046-6673 |
| DOI: | 10.1681/asn.2006080833 |
| Popis: | Primary coenzyme Q(10) (CoQ(10)) deficiency includes a group of rare autosomal recessive disorders primarily characterized by neurological and muscular symptoms. Rarely, glomerular involvement has been reported. The COQ2 gene encodes the para-hydroxybenzoate-polyprenyl-transferase enzyme of the CoQ(10) synthesis pathway. We identified two patients with early-onset glomerular lesions that harbored mutations in the COQ2 gene. The first patient presented with steroid-resistant nephrotic syndrome at the age of 18 months as a result of collapsing glomerulopathy, with no extrarenal symptoms. The second patient presented at five days of life with oliguria, had severe extracapillary proliferation on renal biopsy, rapidly developed end-stage renal disease, and died at the age of 6 months after a course complicated by progressive epileptic encephalopathy. Ultrastructural examination of renal specimens from these cases, as well as from two previously reported patients, showed an increased number of dysmorphic mitochondria in glomerular cells. Biochemical analyses demonstrated decreased activities of respiratory chain complexes [II+III] and decreased CoQ(10) concentrations in skeletal muscle and renal cortex. In conclusion, we suggest that inherited COQ2 mutations cause a primary glomerular disease with renal lesions that vary in severity and are not necessarily associated with neurological signs. COQ2 nephropathy should be suspected when electron microscopy shows an increased number of abnormal mitochondria in podocytes and other glomerular cells. |
| Databáze: | OpenAIRE |
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