意大利杜兴氏肌营养不良症的患病率：一项全国性调查。
Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey.
作者信息
Capasso Anna, Cicala Gianpaolo, Ricci Martina, Pane Marika, D'Amico Adele, Bruno Claudio, Sansone Valeria Ada, Messina Sonia, Bello Luca, Pegoraro Elena, D'Angelo Maria Grazia, Masson Riccardo, Berardinelli Angela, Pini Antonella, Ricci Federica, Mongini Tiziana Enrica, Coccia Michela, Nigro Vincenzo, Trabacca Antonio, Filosto Massimiliano, Comi Giacomo, Magri Francesca, Barp Andrea, Battini Roberta, Previtali Stefano Carlo, Valentino Maria Lucia, Diella Eleonora, Dosi Claudia, Ruggiero Lucia, Siciliano Gabriele, Ricci Giulia, Catteruccia Michela, Arpaia Chiara, Coratti Giorgia, Norcia Giulia, Bonanno Silvia, Verriello Lorenzo, Agosto Caterina, Varone Antonio, Ferlini Alessandra, Maioli Maria Antonietta, Brogna Claudia, Siliquini Sabrina, Bruno Irene, Panicucci Chiara, Allegra Cosimo, Albamonte Emilio, Mercuri Eugenio
机构信息
Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Agostino Gemelli IRCCS, Rome, Italy.
出版信息
Eur J Pediatr. 2024 Dec 16;184(1):86. doi: 10.1007/s00431-024-05903-x.
PURPOSE
The availability of care recommendations has improved survival and delayed the progression of clinical signs in Duchenne muscular dystrophy. The aim of the study was to perform a nationwide survey investigating the prevalence, age distribution, and functional status of Duchenne muscular dystrophyin Italy.
METHODS
The survey was performed by collecting data from all 31 reference centers for Duchenne muscular dystrophy in Italy using a structured form. We assessed age distribution, motor function, and the need for respiratory and nutritional support to evaluate their prevalence in different age and functional subgroups.
RESULTS
The estimated prevalence was 1.65/100,000 (3.4/100,000 males). There were 972 boys and adults with a confirmed diagnosis of Duchenne, of age ranging between 6 months and 48 years (mean = 16.5). Over 59% were below the age of 18 years and the remaining 41% were adults. Over 43% were ambulant and 57% non-ambulant; 14.7% were steroids naive (mean 20.6 years), 75% are currently on steroids (mean 14.6 years) with 604 on the daily regime, 126 intermittent. Nearly 73% did not require any ventilatory support, 16% had NIV ≤ 12 h, 9% > 12 h, and 1.4% had a tracheostomy. More than 82% did not require any nutritional support, 13% required food modification/semisolid and 4.4% had a G-tube.
CONCLUSIONS
Our findings provide information to be used not only for epidemiological purposes but also for possible trial design to include older non-ambulant patients who until recently have been excluded and for whom clinical information is limited. What is Known • Duchenne muscular dystrophy is a progressive disorder associated with reduced survival. • As part of the disorder there is also a progressive loss of important milestones, including loss of ambulation, and increased need for respiratory and nutritional support. What is New • Our nationwide survey provides prevalence, age distribution, and functional status for Duchenne muscular dystrophyin Italy including both boys and adults. • Our findings can be used for epidemiological purposes and for possible trial design.
目的
护理建议的可获得性提高了杜氏肌营养不良症患者的生存率，并延缓了临床症状的进展。本研究旨在进行一项全国性调查，以调查意大利杜氏肌营养不良症的患病率、年龄分布和功能状态。
方法
通过使用结构化表格从意大利所有31个杜氏肌营养不良症参考中心收集数据来进行这项调查。我们评估了年龄分布、运动功能以及呼吸和营养支持需求，以评估它们在不同年龄和功能亚组中的患病率。
结果
估计患病率为1.65/10万（男性为3.4/10万）。有972名确诊为杜氏肌营养不良症的男孩和成人，年龄在6个月至48岁之间（平均 = 16.5岁）。超过59%的患者年龄在18岁以下，其余41%为成年人。超过43%的患者能够行走，57%不能行走；14.7%未使用过类固醇（平均年龄20.6岁），75%目前正在使用类固醇（平均年龄14.6岁），其中604人采用每日用药方案，126人采用间歇性用药方案。近73%的患者不需要任何通气支持，16%的患者无创通气时间≤12小时，9%的患者>12小时，1.4%的患者进行了气管造口术。超过82%的患者不需要任何营养支持，13%的患者需要食物调整/半固体食物，4.4%的患者有胃造口管。
结论
我们的研究结果不仅可为流行病学目的提供信息，还可为可能的试验设计提供信息，以便纳入那些直到最近都被排除在外且临床信息有限的大龄非行走患者。已知信息：杜氏肌营养不良症是一种与生存率降低相关的进行性疾病。作为该疾病的一部分，还会逐渐丧失重要的运动里程碑，包括失去行走能力，以及对呼吸和营养支持的需求增加。新发现：我们的全国性调查提供了意大利杜氏肌营养不良症患者（包括男孩和成人）的患病率、年龄分布和功能状态。我们的研究结果可用于流行病学目的和可能的试验设计。
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