Orphanet journal of rare diseases · 2020
Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Yoshioka Wakako, Miyasaka Naoyuki, Okubo Ryo, Shimizu Reiko, Takahashi Yuji, Oda Yuriko, Nishino Ichizo, Nakamura Harumasa, Mori-Yoshimura Madoka
Аннотация
BACKGROUND: GNE myopathy is an autosomal recessive adult-onset distal myopathy. While a few case reports have described the progression of GNE myopathy during pregnancy, to our knowledge, none have examined disease progression after delivery or obstetric complications.
OBJECTIVE: This study aimed to reveal maternal complications, newborn complications, and the impact of pregnancy on disease progression in GNE myopathy patients.
METHODS: We conducted a questionnaire survey on pregnancy, delivery, and newborns involving female GNE myopathy patients who are currently registered in a national registry in Japan.
RESULTS: The response rate for the questionnaire survey was 60.0% (72/120). Of the 72 respondents, 44 (61.1%) had pregnancy experience (average, 1.8 pregnancies; 53 pregnancies before onset and 28 after onset). The incidence of threatened abortion was 26.9% among post-onset pregnancies, which was higher compared to those of the general Japanese population (p = 0.03). No other maternal or infant complications were commonly observed. Over 80% were unaware of changes in disease progression during pregnancy (mean age, 32.8 ± 3.5 years) or after delivery (32.9 ± 3.8 years), while 19.0% experienced disease exacerbation within a year after delivery (30.0 ± 1.0 years). Six patients developed myopathy within a year after delivery (29.7 ± 4.6 years), while none developed myopathy during pregnancy.
CONCLUSIONS: There were no serious maternal or newborn complications, and subjective progression did not differ during or after delivery in the majority of GNE myopathy patients. However, our findings suggest the importance of considering the possibility of threatened abortion and disease progression after delivery.
OBJECTIVE: This study aimed to reveal maternal complications, newborn complications, and the impact of pregnancy on disease progression in GNE myopathy patients.
METHODS: We conducted a questionnaire survey on pregnancy, delivery, and newborns involving female GNE myopathy patients who are currently registered in a national registry in Japan.
RESULTS: The response rate for the questionnaire survey was 60.0% (72/120). Of the 72 respondents, 44 (61.1%) had pregnancy experience (average, 1.8 pregnancies; 53 pregnancies before onset and 28 after onset). The incidence of threatened abortion was 26.9% among post-onset pregnancies, which was higher compared to those of the general Japanese population (p = 0.03). No other maternal or infant complications were commonly observed. Over 80% were unaware of changes in disease progression during pregnancy (mean age, 32.8 ± 3.5 years) or after delivery (32.9 ± 3.8 years), while 19.0% experienced disease exacerbation within a year after delivery (30.0 ± 1.0 years). Six patients developed myopathy within a year after delivery (29.7 ± 4.6 years), while none developed myopathy during pregnancy.
CONCLUSIONS: There were no serious maternal or newborn complications, and subjective progression did not differ during or after delivery in the majority of GNE myopathy patients. However, our findings suggest the importance of considering the possibility of threatened abortion and disease progression after delivery.