| A mitochondrial DNA deletion presenting with corneal clouding and severe Fanconi syndrome. | |
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MedLine Citation:
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PMID: 22271366 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Mitochondrial cytopathies are a diverse group of disorders characterized by impaired mitochondrial energy production. Disease manifestations are protean and may include seemingly disparate findings. CASE DIAGNOSIS/TREATMENT: 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. CONCLUSION: 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. |
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Authors:
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Joyce J Lee; Laura M Tripi; Richard W Erbe; Sudha Garimella-Krovi; James E Springate |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2012-01-20 |
Journal Detail:
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Title: Pediatric nephrology (Berlin, Germany) Volume: 27 ISSN: 1432-198X ISO Abbreviation: Pediatr. Nephrol. Publication Date: 2012 May |
Date Detail:
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Created Date: 2012-03-30 Completed Date: 2012-07-24 Revised Date: 2013-05-20 |
Medline Journal Info:
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Nlm Unique ID: 8708728 Medline TA: Pediatr Nephrol Country: Germany |
Other Details:
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Languages: eng Pagination: 869-72 Citation Subset: IM |
Affiliation:
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Women and Children's Hospital of Buffalo, Division of Pediatric Nephrology, 219 Bryant Street, Buffalo, NY 14222, USA. joycelee@buffalo.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Acid-Base Imbalance
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etiology Acidosis / complications Bicarbonates / therapeutic use Child, Preschool Corneal Opacity / etiology*, genetics* DNA, Mitochondrial / genetics* Drug Resistance Fanconi Syndrome / complications*, genetics* Female Hearing Loss, Sensorineural / etiology Humans Kidney Function Tests Mitochondrial Diseases / complications*, genetics* Photophobia / etiology Sequence Deletion* Weight Loss |
| Chemical | |
Reg. No./Substance:
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0/Bicarbonates; 0/DNA, Mitochondrial |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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