Abstract
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.
References
Johns DR (1995) Mitochondrial DNA and disease. N Engl J Med 333:638–644
Hernandez EM, Garcia-Silva MT, Vera J, Campos Y, Cabello A, Muley R, del Hoyo P, Martin M, Arenas J (2005) Renal pathology in children with mitochondrial diseases. Pediatr Nephrol 20:1299–1305
Niaudet P, Rotig A (1996) Renal involvement in mitochondrial cytopathies. Pediatr Nephrol 10:368–373
Koenig MK (2008) Presentation and diagnosis of mitochondrial disorders in children. Pediatr Neurol 38:305–313
Wong LJ (2001) Recognition of mitochondrial DNA deletion syndrome with non-neuromuscular multisystemic manifestations. Genet Med 3:399–404
Lee HF, Lee HJ, Chi CS, Tsai CR, Chang P (2006) Corneal clouding: an infrequent ophthalmic manifestation of mitochondrial disease. Pediatr Neurol 34:464–466
Gross-Jendroska M, Schatz H, McDonald HR, Johnson RN (1992) Kearns-Sayre syndrome: a case report and review. Eur J Ophthalmol 1:15–20
Rotig A (2003) Renal disease and mitochondrial genetics. J Nephrol 16:286–292
Neiberger RE, George JC, Perkins LA (2002) Renal manifestations of congenital lactic acidosis. Am J Kidney Dis 39:12–23
Niaudet P, Heidet L, Munnich A, Schmitz J, Bouissou F, Gubler MC, Rotig A (1994) Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome. Pediatr Nephrol 8:164–168
Morris AAM, Taylor RW, Birch-Machin MA, Jackson MJ, Coulthard MG, Bindoff LA, Welch RJ, Howell N, Turnbull DM (1995) Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain. Pediatr Nephrol 9:407–411
Wang LC, Lee WT, Tsai WY, Tsau YK, Shen YZ (2000) Mitochondrial cytopathy combined with Fanconi syndrome. Pediatr Neurol 22:403–406
Debray FG, Merouani A, Lambert M, Brochu P, Bernard C, Robinson B, Mitchell GA (2008) Acute tubular dysfunction with Fanconi syndrome: a new manifestation of mitochondrial cytopathies. Am J Kidney Dis 51:691–696
Kuwertz-Broking E, Koch HG, Marquardt T, Rossi R, Helmchen U, Muller-Hocker J, Harms E, Bulla M (2000) Renal Fanconi syndrome: first sign of partial respiratory chain complex IV deficiency. Pediatr Nephrol 14:495–498
Thirumurugan A, Thewles A, Gilbert RD, Hulton SA, Milford DV, Lote CJ, Taylor CM (2004) Urinary L-lactate excretion is increased in renal Fanconi syndrome. Nephrol Dial Transplant 19:1767–1773
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Lee, J.J., Tripi, L.M., Erbe, R.W. et al. A mitochondrial DNA deletion presenting with corneal clouding and severe Fanconi syndrome. Pediatr Nephrol 27, 869–872 (2012). https://doi.org/10.1007/s00467-011-2096-2
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00467-011-2096-2