A mitochondrial DNA deletion presenting with corneal clouding and severe Fanconi syndrome
| Autor: | Joyce J. Lee, James E. Springate, Sudha Garimella-Krovi, Laura M. Tripi, Richard W. Erbe |
|---|---|
| Rok vydání: | 2011 |
| Předmět: |
Mitochondrial DNA
Mitochondrial Diseases Mitochondrial disease Hearing Loss Sensorineural Respiratory chain Drug Resistance Corneal dystrophy Acid-Base Imbalance Kidney Function Tests DNA Mitochondrial Corneal Opacity Photophobia Weight Loss medicine Humans Sequence Deletion Genetics business.industry Fanconi syndrome Metabolic acidosis medicine.disease Fanconi Syndrome Heteroplasmy Bicarbonates Nephrology Child Preschool Pediatrics Perinatology and Child Health Immunology Female business Acidosis Urine organic acids |
| Zdroj: | Pediatric nephrology (Berlin, Germany). 27(5) |
| ISSN: | 1432-198X |
| Popis: | Mitochondrial cytopathies are a diverse group of disorders characterized by impaired mitochondrial energy production. Disease manifestations are protean and may include seemingly disparate findings. Here we report a 5-year-old girl with the uncommon pairing of bilateral corneal dystrophy requiring corneal transplantation and severe Fanconi syndrome recalcitrant to oral bicarbonate therapy necessitating intravenous supplementation. Etiological work-up included qualitative urine organic acid testing, which demonstrated abnormalities in lactate, pyruvate, and ketoacids suggestive of a mitochondrial etiology. Confirmatory genetic testing in blood leukocytes revealed a large, novel, heteroplasmic, de novo mitochondrial DNA deletion at nt 8648–16072. The finding of Fanconi syndrome with disease processes in other, seemingly unrelated, organ systems should raise clinical suspicion for mitochondrial disease. Early assessment of urine organic acids in the etiological work-up of Fanconi syndrome may assist in the identification of respiratory chain disorders. |
| Databáze: | OpenAIRE |
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