American Journal of Kidney Diseases
Volume 51, Issue 4 , Pages 691-696 , April 2008

Acute Tubular Dysfunction With Fanconi Syndrome: A New Manifestation of Mitochondrial Cytopathies

  • François-Guillaume Debray, MD

      Affiliations

    • Division of Medical Genetics, Department of Pediatrics, Montreal Children Hospital, McGill University, Montreal, Québec, Canada
    • ,
  • Aicha Merouani, MD

      Affiliations

    • Division of Nephrology, Department of Pediatrics, Montreal Children Hospital, McGill University, Montreal, Québec, Canada
    • ,
  • Marie Lambert, MD

      Affiliations

    • Division of Medical Genetics, Department of Pediatrics, Montreal Children Hospital, McGill University, Montreal, Québec, Canada
    • ,
  • Pierre Brochu, MD

      Affiliations

    • Department of Pathology, CHU Sainte-Justine, Montreal Children Hospital, McGill University, Montreal, Québec, Canada
    • ,
  • Chantal Bernard, MD

      Affiliations

    • Department of Pathology, Montreal Children Hospital, McGill University, Montreal, Québec, Canada
    • ,
  • Brian H. Robinson, PhD

      Affiliations

    • Metabolism Research Program, Research Institute, Department of Pediatrics and Biochemistry, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
    • ,
  • Grant A. Mitchell, MD

      Affiliations

    • Division of Medical Genetics, Department of Pediatrics, Montreal Children Hospital, McGill University, Montreal, Québec, Canada
    • Corresponding Author InformationAddress correspondence to Grant A. Mitchell, MD, CHU Sainte-Justine, 3175 Côte Sainte-Catherine, Montréal, Québec, H3T 1C5, Canada.

Received 8 June 2007 ,Accepted 13 November 2007.

  • Image Result

    Lifelong course of patients (A) 1 and (B) 2. Boxes represent mean for bicarbonate (upper right-side y-axis) and elemental phosphorus (lower right-side y-axis) administrations, mean plasma bicarbonate

    Lifelong course of patients (A) 1 and (B) 2. Boxes represent mean for bicarbonate (upper right-side y-axis) and elemental phosphorus (lower right-side y-axis) administrations, mean plasma bicarbonate (closed circle; upper left-side y-axis), mean anion gap (open circle; upper left-side y-axis), and mean plasma phosphorus (closed diamond; lower left-side y-axis). Error bars are SD. Abbreviations: AA, aminoaciduria; creat, plasma creatinine. To convert creatinine in mg/dL to μmol/L, multiply by 88.4; phosphorus in mg/dL to mmol/L, multiply by 3.01.

  • Image Result
    Chronology of biological parameters and electrolyte administration during acidotic episodes of patients (A) 1 and (B) 2. Grey boxes show supplementation levels for bicarbonate (upper right-side y-axis

    Chronology of biological parameters and electrolyte administration during acidotic episodes of patients (A) 1 and (B) 2. Grey boxes show supplementation levels for bicarbonate (upper right-side y-axis) and phosphorus (lower right-side y-axis). Shown are plasma bicarbonate (closed circle; upper left-side y-axis), anion gap (open circle; upper left-side y-axis), and plasma phosphorus (closed diamond; lower left-side y-axis). To convert phosphorus in mg/dL to mmol/L, multiply by 3.01.

  • Image Result
    Electron micrographs show widespread proliferation of mitochondria with bizarre shape and hypertrophic cristae occupying most of the volume of proximal tubular cells. (A) Patient 1 (original magnifica

    Electron micrographs show widespread proliferation of mitochondria with bizarre shape and hypertrophic cristae occupying most of the volume of proximal tubular cells. (A) Patient 1 (original magnification ×3,000); (B) patient 2 (original magnification ×2,800).

PII: S0272-6386(07)01610-1

doi: 10.1053/j.ajkd.2007.11.024

American Journal of Kidney Diseases
Volume 51, Issue 4 , Pages 691-696 , April 2008

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