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RENAL TUBULOPATHY, DIABETES MELLITUS, AND CEREBELLAR ATAXIA

RENAL TUBULOPATHY, DIABETES MELLITUS, AND CEREBELLAR ATAXIA

A number sign (#) is used with this entry because of evidence that the disorder is caused by duplication of mitochondrial DNA.Rotig et al. (1992) reported the ca...

A number sign (#) is used with this entry because of evidence that the disorder is caused by duplication of mitochondrial DNA.

Rotig et al. (1992) reported the cases of 2 sisters who presented in the first year of life because of failure to thrive and were found to have a severe proximal tubulopathy with polyuria and loss of potassium, sodium, calcium, and chloride. A mottled pigmentation was present in photoexposed areas (forearms, legs, and cheeks), and episodes of cold-triggered erythrocyanosis of the toes and fingers were noted. The older sister developed fatal diarrhea, vomiting, and dehydration at the age of 5 years. The second sister developed a severe episode of diarrhea and dehydration at the age of 3 years. Although she survived this episode, she subsequently developed extraocular muscle palsy, lid ptosis, pigmentary deposits of the retina, and extinguished electroretinogram. Osteoporosis and rickets were detected as well as liver enlargement. In her fifth year, insulin-dependent diabetes mellitus was found, and she gradually developed cerebellar ataxia and hypotonia with deafness, blindness, myoclonic jerks, and psychomotor regression. Death occurred at the age of 8 years. In this family the mother had gradually developed bilateral extraocular muscle palsy with lid ptosis and micropunctated tapetoretinal degeneration in early adulthood. She also developed myopia, hypoacusis, and muscle weakness after her first pregnancy. The 2 sisters described were her only children. Using polymerase chain reaction (PCR) amplification of lymphocyte DNA, Rotig et al. (1992) detected minute amounts of duplicated mtDNA molecules in the mother. Skeletal muscle and lymphocytes of the younger sister had demonstrated complex III deficiency. Southern blot analysis provided evidence for a heteroplasmic partial duplication of mtDNA (26 kb), involving one full-length and one partly deleted mitochondrial genome and with a single abnormal junction between the genes for ATPase 6 and cytochrome b.

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