title: Renal dysfunction can be a common complication in patients with myotonic dystrophy 1.
abstract: Although renal failure can be a life-threatening complication even in neuromuscular disorders (NMDs), renal dysfunction is easily overlooked because muscle atrophy decreases the serum creatinine level. Renal function was retrospectively assessed using cystatin C (CysC) in various NMDs to clarify the differences among diseases. As is in the general population, age was correlated to CysC, and female patients showed lower CysC levels. Although elevated CysC was frequent in myotonic dystrophy 1 (DM1: MIM 160900) and motor neuron disorders, an inter-disease comparison by sex adjusted for age showed that only DM1 had a higher CysC compared to other diseases. Multivariate linear regression with the stepwise method also suggested that the number of CTG repeats had an impact on CysC levels. In two autopsy DM1 cases, nephrosclerotic changes were observed even though they were in their forties. These facts suggested a disease-specific pathomechanism for renal dysfunction in DM1. Although further study is required, renal function should be carefully monitored in patients with DM1.
authors.affiliation: Department of Neurology, National Hospital Organization Toneyama National Hospital, Toneyama 5-1-1, Toyonaka, Osaka 560-8552, Japan. Electronic address: tmatsumura-toneyama@umin.org.
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Matsumura
authors.affiliation: Department of Neurology, National Hospital Organization Toneyama National Hospital, Toneyama 5-1-1, Toyonaka, Osaka 560-8552, Japan. Electronic address: saitot@toneyama.go.jp.
authors.forename: Toshio
authors.initials: T
authors.lastname: Saito
authors.affiliation: Department of Neuropsychopharmacology, National Institute of Mental Health, National Center of Neurology and Psychiatry, Ogawa-Higashi 4-1-1, Kodaira, Tokyo 187-8551, Japan. Electronic address: nyonemoto@gmail.com.
authors.forename: Naohiro
authors.initials: N
authors.lastname: Yonemoto
authors.affiliation: Department of Neurology, Osaka University Graduate School of Medicine, Yamadaoka 2, Suita, Osaka 565-0871, Japan. Electronic address: mnakamor@neurol.med.osaka-u.ac.jp.
authors.forename: Masayuki
authors.initials: M
authors.lastname: Nakamori
authors.affiliation: Department of Nephrology, Otemae Hospital, Otemae 1-5-34, Chuo-ku, Osaka 540-0008, Japan. Electronic address: sugiura@otemae.org.jp.
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Sugiura
authors.affiliation: Department of Nephrology, Otemae Hospital, Otemae 1-5-34, Chuo-ku, Osaka 540-0008, Japan. Electronic address: aynakamaor@gmail.com.
authors.forename: Aya
authors.initials: A
authors.lastname: Nakamori
authors.affiliation: Department of Neurology, National Hospital Organization Toneyama National Hospital, Toneyama 5-1-1, Toyonaka, Osaka 560-8552, Japan. Electronic address: hfujim@hosp.go.jp.
authors.forename: Harutoshi
authors.initials: H
authors.lastname: Fujimura
authors.affiliation: Department of Neurology, National Hospital Organization Toneyama National Hospital, Toneyama 5-1-1, Toyonaka, Osaka 560-8552, Japan. Electronic address: sakoda@toneyama.go.jp.
authors.forename: Saburo
authors.initials: S
authors.lastname: Sakoda
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D055316:Cystatin C / Q000378:metabolism; D005260:Female; D006801:Humans; D007674:Kidney Diseases / Q000209:etiology*; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000150:complications* / Q000473:pathology; D012189:Retrospective Studies; D012727:Sex Characteristics; D018709:Statistics, Nonparametric; D055815:Young Adult
chemical_list: D055316:Cystatin C
keywords: Cardiorenal association; Cystatin C; Myotonic dystrophy 1; Neuromuscular disorders; Renal dysfunction