Fatigue and quality of life in citrin deficiency during adaptation and compensation stage

Yoshiyuki Okano, Kyoko Kobayashi, Kenji Ihara, Tetsuya Ito, Makoto Yoshino, Yoriko Watanabe, Shunsaku Kaji, Toshihiro Ohura, Masayoshi Nagao, Atsuko Noguchi, Sotaro Mushiake, Naohiro Hohashi, Tomoko Hashimoto-Tamaoki

研究成果: Article査読

17 被引用数 (Scopus)


Citrin-deficient children and adolescents between adult-onset type II citrullinemia and neonatal intrahepatic cholestasis by citrin deficiency do not have clear clinical features except for unusual diet of high-fat, high-protein, and low-carbohydrate food. The aims of the present study are to characterize fatigue and quality of life (QOL) in citrin-deficient patients during adaptation and compensation stage, and to define the relationship between fatigue and QOL. The study subjects were 55 citrin-deficient patients aged 1-22. years (29 males) and 54 guardians. Fatigue was evaluated by self-reports and proxy-reports of the PedsQL Multidimensional Fatigue Scale. QOL was evaluated by the PedsQL Generic Core Scales. Both scale scores were significantly lower in child self-reports (p< 0.01 and p< 0.05, respectively) and parent proxy-reports (p< 0.01 and p< 0.01, respectively) than those of healthy children. Citrin-deficient patients with scores of 50 percentile or less of healthy children constituted 67.5% of the sample for the Fatigue Scale and 68.4% for the Generic Core Scales. The PedsQL Fatigue Scale correlated with the Generic Core Scales for both the patients (r = 0.56) and parents reports (r = 0.71). Assessments by the patients and their parents showed moderate agreement. Parents assessed the condition of children more favorably than their children. The study identified severe fatigue and impaired QOL in citrin-deficient patients during the silent period, and that such children perceive worse fatigue and poorer QOL than those estimated by their parents. The results stress the need for active involvement of parents and medical staff in the management of citrin-deficient patients during the silent period.

ジャーナルMolecular Genetics and Metabolism
出版ステータスPublished - 05-2013

All Science Journal Classification (ASJC) codes

  • 内分泌学、糖尿病および代謝内科学
  • 生化学
  • 分子生物学
  • 遺伝学
  • 内分泌学


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