A familial case of mitochondrial disease resembling Alport syndrome.
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.
Fujii
Hayahiko
H
Department of Nephrology, Graduate School of Medicine, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.
Mori
Yoshihiro
Y
Department of Nephrology, Graduate School of Medicine, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.
Kayamori
Kou
K
Department of Clinical Pathology, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
Igari
Toru
T
Department of Clinical Pathology, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
Ito
Eisaku
E
Department of Clinical Pathology, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
Akashi
Takumi
T
Department of Clinical Pathology, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
Noguchi
Yoshihiro
Y
Department of Otolaryngology, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
Kitamura
Ken
K
Department of Otolaryngology, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
Okado
Tomokazu
T
Department of Nephrology, Graduate School of Medicine, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.
Terada
Yoshio
Y
Department of Nephrology, Graduate School of Medicine, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.
Kanda
Eiichiro
E
Department of Nephrology, Graduate School of Medicine, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.
Rai
Tatemitsu
T
Department of Nephrology, Graduate School of Medicine, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.
Uchida
Shinichi
S
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.
Sasaki
Sei
S
Department of Nephrology, Graduate School of Medicine, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.
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
D004272:DNA, Mitochondrial