Abstract

Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by life-threatening infections, inflammation, and autoimmunity with an impact on health-related quality of life (HRQoL). Few data are available for children, whereas no study has been conducted in adults. Here, we investigated HRQoL and emotional functioning of 19 children and 28 adults enrolled in Italian registry for CGD. PEDsQL and SDQ were used for children and their caregivers, and adults completed the SF-12 questionnaire. Mean scores were compared with norms and with patients affected by chronic diseases. Comparisons were made for CGD patients who underwent or not hematopoietic stem cell transplantation (HSCT). When compared with norms, CGD children exhibited higher difficulties in social/school areas, peer relationship, and conduct/emotional problems (< 5 years of age), as scored by proxies. Differently, CGD adults reported higher difficulties both in mental and physical area than norms. Only for children, clinical status had a damaging effect on psychosocial and school dimensions, whereas age had a negative impact on social areas. No significant difference was observed between patients treated or not with HSCT. When compared with patients affected by chronic diseases, CGD children and adults both displayed fewer physical disabilities. Differently, in mental scale adults scored lower than those with rheumatology diseases and had similar impairment in comparison with patients with diabetes mellitus and cancer. This study emphasized the impact of CGD on HRQoL since infancy and its decline in adulthood, with emotional difficulties occurring early. HRQoL impairment should be considered in clinical picture of CGD and pro-actively assessed and managed by clinicians.

中文翻译：

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慢性肉芽肿性疾病与健康相关的生活质量和情绪困难：来自意大利原发性免疫缺陷网络（IPINet）的成年和儿科患者数据。

摘要

慢性肉芽肿性疾病（CGD）是主要的免疫缺陷，其特征是威胁生命的感染，炎症和自身免疫，影响健康相关的生活质量（HRQoL）。儿童的数据很少，而成年人没有进行任何研究。在这里，我们调查了在意大利注册CGD的19名儿童和28名成人的HRQoL和情绪功能。PEDsQL和SDQ用于儿童及其看护者，成人填写了SF-12调查表。将平均得分与正常人以及患有慢性疾病的患者进行比较。对接受或不接受造血干细胞移植（HSCT）的CGD患者进行比较。与规范相比，CGD儿童在社交/学区，同伴关系和行为/情感问题上表现出更高的困难（< 5岁以下），由代理人评分。不同的是，CGD成人在精神和身体方面的困难要高于正常水平。仅对儿童而言，临床状况对社会心理和学校规模具有破坏性影响，而年龄对社会领域则具有负面影响。接受或未接受HSCT治疗的患者之间未观察到显着差异。与患有慢性疾病的患者相比，CGD的儿童和成人均表现出较少的身体残疾。不同的是，在精神量表中，成年人的得分低于风湿病患者，并且与糖尿病和癌症患者相比，损伤程度相似。这项研究强调了婴儿期以来CGD对HRQoL的影响及其成年后的下降，以及早期出现的情绪障碍。