title: Focal segmental glomerulosclerosis associated with maternally inherited diabetes and deafness: clinical pathological analysis.
abstract: Maternally inherited diabetes and deafness (MIDD), which is caused by an A to G substitution at position 3243 (m.3243A>G) in the transfer ribonucleic acid leucine gene, is characterized by diabetes and hearing loss. Patients with MIDD frequently have renal disease, which may precede the diagnosis of either diabetes or deafness or may be the sole manifestation of the m.3243A>G mutation. Recently, progressive renal failure was reported in adults, and a number of childhood cases of focal segmental glomerulosclerosis (FSGS) of MIDD have been reported. However, little is known about the glomerular lesions in FSGS in MIDD. In the present study, we reported two cases of FSGS associated with MIDD and studied the clinical features of the proband and her mother.
authors.affiliation: State Discipline and State Key Laboratory of Kidney Disease (Chinese PLA General Hospital, 2011DAV00088), Beijing 100853, PR China, .
authors.forename: Xue-Ying
authors.initials: XY
authors.lastname: Cao
authors.forename: Ri-Bao
authors.initials: RB
authors.lastname: Wei
authors.forename: Yuan-Da
authors.initials: YD
authors.lastname: Wang
authors.forename: Xue-Guang
authors.initials: XG
authors.lastname: Zhang
authors.forename: Li
authors.initials: L
authors.lastname: Tang
authors.forename: Xiang-Mei
authors.initials: XM
authors.lastname: Chen
mesh_terms: D000293:Adolescent; D000328:Adult; D003638:Deafness / Q000150:complications*; D003924:Diabetes Mellitus, Type 2 / Q000150:complications*; D005260:Female; D005923:Glomerulosclerosis, Focal Segmental / Q000175:diagnosis* / Q000473:pathology*; D006651:Histocytochemistry; D006801:Humans; D007668:Kidney / Q000473:pathology; D008853:Microscopy; D028361:Mitochondrial Diseases