title: A familial case of mitochondrial disease resembling Alport syndrome.
abstract: A 38-year-old man with mild sensorineural hearing loss, diabetes mellitus, proteinuria, and slight renal dysfunction was admitted to our hospital for a renal biopsy to determine the cause of kidney disease. His elder sister and mother also had sensorineural hearing loss and renal failure, suggesting the existence of a common genetic disease in this family. Although the clinical features of the patient were similar to features of Alport syndrome, renal biopsy revealed no sign of Alport syndrome. We next considered a possibility of a mitochondrial kidney disease described by Jansen in 1997. Indeed, genetic analysis of mitochondrial DNA clarified the existence of A3243G mutation in the patient and his sister. This syndrome should be recognized by nephrologists as a differential diagnosis of Alport syndrome, diabetic nephropathy, and primary glomerular diseases.
authors.affiliation: Department of Nephrology, Graduate School of Medicine, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.
authors.forename: Hayahiko
authors.initials: H
authors.lastname: Fujii
authors.affiliation: Department of Nephrology, Graduate School of Medicine, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Mori
authors.affiliation: Department of Clinical Pathology, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
authors.forename: Kou
authors.initials: K
authors.lastname: Kayamori
authors.affiliation: Department of Clinical Pathology, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
authors.forename: Toru
authors.initials: T
authors.lastname: Igari
authors.affiliation: Department of Clinical Pathology, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
authors.forename: Eisaku
authors.initials: E
authors.lastname: Ito
authors.affiliation: Department of Clinical Pathology, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
authors.forename: Takumi
authors.initials: T
authors.lastname: Akashi
authors.affiliation: Department of Otolaryngology, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Noguchi
authors.affiliation: Department of Otolaryngology, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
authors.forename: Ken
authors.initials: K
authors.lastname: Kitamura
authors.affiliation: Department of Nephrology, Graduate School of Medicine, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.
authors.forename: Tomokazu
authors.initials: T
authors.lastname: Okado
authors.affiliation: Department of Nephrology, Graduate School of Medicine, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Terada
authors.affiliation: Department of Nephrology, Graduate School of Medicine, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.
authors.forename: Eiichiro
authors.initials: E
authors.lastname: Kanda
authors.affiliation: Department of Nephrology, Graduate School of Medicine, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.
authors.forename: Tatemitsu
authors.initials: T
authors.lastname: Rai
authors.affiliation: Department of Nephrology, Graduate School of Medicine, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan. suchida.kid@tmd.ac.jp.
authors.forename: Shinichi
authors.initials: S
authors.lastname: Uchida
authors.affiliation: Department of Nephrology, Graduate School of Medicine, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.
authors.forename: Sei
authors.initials: S
authors.lastname: Sasaki
mesh_terms: D000328:Adult; D001706:Biopsy; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial; D003920:Diabetes Mellitus / Q000235:genetics / Q000473:pathology; D003937:Diagnosis, Differential; D006319:Hearing Loss, Sensorineural / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007668:Kidney / Q000473:pathology; D008297:Male; D028361:Mitochondrial Diseases / Q000150:complications* / Q000235:genetics / Q000473:pathology; D009154:Mutation; D009394:Nephritis, Hereditary / Q000175:diagnosis*; D010375:Pedigree; D011507:Proteinuria / Q000150:complications* / Q000235:genetics / Q000473:pathology; D051437:Renal Insufficiency / Q000150:complications* / Q000235:genetics / Q000473:pathology; D013577:Syndrome
chemical_list: D004272:DNA, Mitochondrial