Cheung Moira, Rylands Angela J, Williams Angela, Bailey Karen, Bubbear Judith
Evelina London Children's Hospital, London, SE1 7EH, UK.
Kyowa Kirin International, Galashiels, Selkirkshire, TD1 1QH, UK.
J Endocr Soc. 2021 Apr 23;5(8):bvab070. doi: 10.1210/jendso/bvab070. eCollection 2021 Aug 1.
X-linked hypophosphatemia (XLH) is a rare, genetic phosphate-wasting disease resulting in bone, muscular, and dental problems, beginning in childhood and increasing in adulthood.
This qualitative analysis aimed to explore patient-reported symptoms, complications, and experiences of XLH over the life-course, using data from a large multinational online survey.
Responses to 2 open-ended questions from 209 adults and 86 children/adolescents (proxy report) with self-reported XLH were analyzed in 8 age groups. Two researchers independently coded and analyzed the responses, using thematic analysis, with differences settled among a multidisciplinary group. Six themes were identified, with age subgroup analysis conducted on the 3 most common, according to coding frequency.
Within theme 1, "Clinical Signs and Symptoms of XLH," "Pain" was a dominant subtheme across the life-course, but "Skeletal Pathology" dominated the responses of children/adolescents. Within theme 2, "Impacts of Clinical Signs and Symptoms," interference with "Physical Exertion" and "Emotional Wellbeing" (comprising depression/anxiety in adults and lack of self-esteem in children/adolescents) was reported across all ages. For theme 3, "Negative Treatment Experiences," "Medication" was problematic for children, with adults reporting lack of "Access to Appropriate Treatment." Three further themes were identified: "Resilience," "Positive Treatment Experiences," and "Information Needs."
The multiple burdens imposed on people with XLH throughout their lifetime encompassed the physical, emotional, and social, although the most challenging symptoms or complications differed between ages. Burden was further exacerbated by adults' lack of access to appropriate treatment, illustrating the need for age-appropriate multidisciplinary care.
X连锁低磷血症（XLH）是一种罕见的遗传性磷消耗性疾病，会导致骨骼、肌肉和牙齿问题，始于儿童期，并在成年期加重。
本定性分析旨在利用一项大型跨国在线调查的数据，探讨患者报告的XLH在整个生命过程中的症状、并发症及经历。
对209名自我报告患有XLH的成年人以及86名儿童/青少年（代理报告）对2个开放式问题的回答进行分析，分为8个年龄组。两名研究人员使用主题分析法对回答进行独立编码和分析，多学科小组解决分歧。确定了6个主题，并根据编码频率对3个最常见的主题进行年龄亚组分析。
在主题1“XLH的临床体征和症状”中，“疼痛”是贯穿生命过程的主要子主题，但“骨骼病理学”在儿童/青少年的回答中占主导地位。在主题2“临床体征和症状的影响”中，各年龄段均报告了对“体力活动”和“情绪健康”（成年人包括抑郁/焦虑，儿童/青少年包括缺乏自尊）的干扰。对于主题3“负面治疗经历”，“药物治疗”对儿童来说存在问题，成年人报告“难以获得适当治疗”。还确定了另外3个主题：“恢复力”、“积极治疗经历”和“信息需求”。
XLH患者一生所承受的多重负担包括身体、情感和社会方面的负担，尽管不同年龄段最具挑战性的症状或并发症有所不同。成年人难以获得适当治疗进一步加剧了负担，这表明需要提供适合年龄的多学科护理。
