著者

篠原 英美 衞藤 薫 勝浦 美沙子 橋本 和典 佐藤 友哉 水落 清 西川 愛子 永田 智

出版者

東京女子医科大学学会

雑誌

東京女子医科大学雑誌 (ISSN:00409022)

巻号頁・発行日

vol.93, no.2, pp.62-66, 2023-04-25 (Released:2023-04-25)

参考文献数

14

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We report a case of pediatric Fabry disease in a girl whose pain was relieved and quality of life (QOL) improved with enzyme replacement therapy (ERT). Her father was diagnosed with Fabry disease based on the examination findings for pre-renal transplantation due to renal failure. Therefore, examinations were performed for her. Urinary mulberry bodies were positive, and the genetic analysis for α-galactosidase A (GLA) revealed a nonsense variant, leading to the diagnosis of pediatric Fabry disease. At 8 years of age, she presented with pain in the distal portion of the extremities and abdomen, which persisted despite oral carbamazepine. Therefore, ERT was provided. After initiation of ERT, blood lyso-Gb3 levels decreased, and extremity and abdominal pain improved. We asked her and her parent questions about QOL before and 12 months after the start of ERT. The European Quality of Life Five Dimension Youth showed improved scores for usual activities and pain or discomfort, and self-scoring of physical and mental condition on the European Quality of Life Visual Analogue Scale improved from 22 before ERT to 70 after 12 months of ERT. Pediatric Quality of Life also showed improved scores for physical and emotional functioning. Similar results were obtained by questioning the parent. Although the questionnaire is subjective and depends on the patient's physical condition at the time, we speculate that ERT improved QOL. Since the severity of clinical symptoms in women with Fabry disease varies, regular follow-up and appropriate intervention soon after the appearance of organ involvement are important to improve QOL and prevent complications.

著者

勝浦 美沙子 岸 崇之 橋本 和典 石黒 久美子 小美野 勝 佐藤 和樹 阿部 和大 永井 智仁 西村 和幸 長原 光 永田 智

出版者

東京女子医科大学学会

雑誌

東京女子医科大学雑誌 (ISSN:00409022)

巻号頁・発行日

vol.90, no.3, pp.65-69, 2020-06-25 (Released:2020-06-25)

参考文献数

16

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We report the clinical course of coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in two Japanese teenagers.Patient 1: :A 17-year-old girl complained of a fever, sore throat, and back pain for 2 days. A nasopharyngeal swab polymerase chain reaction (PCR) test for SARS-CoV-2 revealed positivity on the 17th day after the onset of symptoms. There was no remarkable change in complete blood count (CBC) and biochemical data. The virus tested negative on day 23. Patient 2: A 14-year-old girl, the sister of patient 1, complained of cough alone, and a nasopharyngeal swab PCR test revealed positivity for SARS-CoV-2 on the first day of the onset of symptoms. Her symptoms improved 3 days later. There were no remarkable changes in CBC and biochemical data on a blood test or findings of chest X-ray screening. The virus tested negative on day 10.Both patients exhibited mild symptoms for only a few days. Neither of the patients developed severe pneumonia or acute respiratory distress syndrome. However, it took 23 days for patient 1 and 10 days for patient 2 from the onset of the first symptoms for the virus to test negative on nasopharyngeal swab PCR testing. These cases indicate that patients with mild symptoms may spread the SARS-CoV-2 for the same duration as that of symptomatic patients. Hence, infection control among asymptomatic patients is very important to avoid human-to-human transmission in families or communities.