<Case Reports>Three unrelated boys with mitochondrial disorders : Asymptomatic proteinuria without neuromyopathy

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Background : Mitochondrial disorder is a relatively rare disease during childhood. Previous studies concluded that renal complications in this disease most often occurred in patients with mitochondrial encephalomyopathies. We describe three unrelated boys with mitochondrial disorders who presented with proteinuria while lacking neuromyopathy. Patients : Proteinuria was detected at the ages 3 to 6 years, including large amounts of low-molecular-weight proteins such as β_2- and α1-microglobulin. Renal functions were normal. Proximal tubular dysfunction and other renal manifestations were absent. Short stature resulting from growth hormone deficiency was present in patient 1,who also had congenital cataracts. Short stature unassociated with growth hormone deficiency was present in patient 3. Development was normal in patient 2. Episodic neurologic problems such as migraine and nervous system diseases including epilepsy, schizophrenia, depression, and amytrophic lateral sclerosis (ALS) were found in three boy's family members. In addition, most of patient 3's family showed proteinuria including β_2-microglobulinuria. Renal tubular basement membrane atrophy and interstitial fibrosis with mononuclear cell infiltration were observed in patients 2 and 3,while patient 1 showed minimal changes. In all patients, ultrastructural examination showed mitochondria, mainly in proximal tubules that varied in size and had disoriented cristae. Mitochondrial DNA from peripheral leukocytes contained no point mutation at nucleotide position 3243 in the tRNA^<Leu (UUR)> gene. Conclusion : Awareness among pediatricians of mitochondrial disorders, detection of low-molecular-weight proteinuria, and renal ultrastructural examination are important for early diagnosis.
近畿大学の論文

<Case Reports>Three unrelated boys with mitochondrial disorders : Asymptomatic proteinuria without neuromyopathy

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