Hereditary glomerulopathy associated with a mitochondrial tRNA Leu gene mutation

摘要: Several cases of hereditary glomerulopathy associated with an A to G transition at position 3243 in mitochondrial DNA, which is known be most MELAS syndrome (myopathy, encephalopathy, lactic acidosis, and stroke-like episodes), have been recently reported. These patients share the characteristics progressive glomerular disease hearing loss Alport syndrome. We therefore screened 27 kidney clinically mimicking for presence mutation, found one girl mutation a positive family history. Her clinical features were very similar those all reported date. An absence hematuria, severe involvement female, pathological changes focal segmental glomerulosclerosis no basket-weave change capillary wall, frequent association steroid-induced diabetes are major that distinguish this condition from Careful neurological examination may detect neuromuscular symptoms compatible cytopathies. In conclusion, should included broad spectrum cytopathies, especially This also etiologies secondary differential diagnosis