Hereditary glomerulopathy associated with a mitochondrial tRNA.sup.Leu gene mutation

Byline: H. I. Cheong (1), Jong Hee Chae (1), Jung Sue Kim (1), Hye Won Park (2), Il Soo Ha (1), Yong Seung Hwang (1), Hyun Soon Lee (3), Yong Choi (1) Keywords: Key wordsaMELAS syndrome; Alport syndrome; Focal segmental glomerulosclerosis; Hearing loss; Diabetes Abstract: Several cases of hereditary glomerulopathy associated with an A to G transition at position 3243 in mitochondrial DNA, which is known to be associated with most cases of MELAS syndrome (myopathy, encephalopathy, lactic acidosis, and stroke-like episodes), have been recently reported. These patients share the characteristics of hereditary progressive glomerular disease and hearing loss with Alport syndrome. We therefore screened 27 patients with kidney disease clinically mimicking Alport syndrome for the presence of the 3243 mitochondrial mutation, and found one girl with the mutation and a positive family history. Her clinical features were very similar to those of all cases reported to date. An absence of hematuria, severe kidney involvement in a female, pathological changes of focal segmental glomerulosclerosis with no basket-weave change of the glomerular capillary wall, and the frequent association of steroid-induced diabetes are the major features that distinguish this condition from Alport syndrome. Careful neurological examination may detect neuromuscular symptoms compatible with mitochondrial cytopathies. In conclusion, progressive glomerulopathy should be included in the broad spectrum of mitochondrial cytopathies, especially in cases of MELAS syndrome. This mutation should also be included in the etiologies of secondary focal segmental glomerulosclerosis and in the differential diagnosis of Alport syndrome. Author Affiliation: (1) Department of Pediatrics, Seoul National University Children's Hospital, 28 Yongon-Dong, Chongro-Gu, Seoul 110-744, Korea e-mail: cheonghi@plaza.snu.ac.kr Tel.: +82-2-760-2810, Fax: +82-2-743-3455, KR (2) Department of Pediatrics, Seoul City Boramae Hospital, Seoul, Korea, KR (3) Department of Pathology, Seoul National University Hospital, Seoul, Korea, KR Article note: Received: 16 June 1998 / Revised: 16 October 1998 / Accepted: 17 October 1998