Document Detail

A mitochondrial DNA deletion presenting with corneal clouding and severe Fanconi syndrome.
MedLine Citation:
PMID:  22271366     Owner:  NLM     Status:  MEDLINE    
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.
Joyce J Lee; Laura M Tripi; Richard W Erbe; Sudha Garimella-Krovi; James E Springate
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2012-01-20
Journal Detail:
Title:  Pediatric nephrology (Berlin, Germany)     Volume:  27     ISSN:  1432-198X     ISO Abbreviation:  Pediatr. Nephrol.     Publication Date:  2012 May 
Date Detail:
Created Date:  2012-03-30     Completed Date:  2012-07-24     Revised Date:  2014-11-13    
Medline Journal Info:
Nlm Unique ID:  8708728     Medline TA:  Pediatr Nephrol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  869-72     Citation Subset:  IM    
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MeSH Terms
Acid-Base Imbalance / etiology
Acidosis / complications
Bicarbonates / therapeutic use
Child, Preschool
Corneal Opacity / etiology*,  genetics*
DNA, Mitochondrial / genetics*
Drug Resistance
Fanconi Syndrome / complications*,  genetics*
Hearing Loss, Sensorineural / etiology
Kidney Function Tests
Mitochondrial Diseases / complications*,  genetics*
Photophobia / etiology
Sequence Deletion*
Weight Loss
Reg. No./Substance:
0/Bicarbonates; 0/DNA, Mitochondrial

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