Min Jae-Hoon, Lee Ji Young, Ahn Hye-Sung, Cui Hui Song, Seo Cheong Hoon, Kim June-Bum
Department of Pediatrics, Uijeongbu Eulji Medical Center, Eulji University College of Medicine, Uijeongbu, Republic of Korea.
Department of Pediatrics, Hallym University Chuncheon Sacred Heart Hospital, Chuncheon, Republic of Korea.
Eur J Pediatr. 2024 Jan;183(1):305-311. doi: 10.1007/s00431-023-05299-0. Epub 2023 Oct 25.
Patients with familial hypokalemic periodic paralysis (HOKPP) experience episodes of reversible immobility and are at an increased risk of limited sunlight exposure, potentially leading to vitamin D deficiency. However, there is a lack of data on vitamin D levels in this population. We investigated serum vitamin D levels and their associated factors in children with HOKPP. This study included 170 genetically-confirmed children with HOKPP, aged 3-18 years, and 170 age-, sex-, and body mass index (BMI)-matched healthy controls from the Korean Channelopathy Study, a prospective controlled investigation. Anthropometric and clinical characteristics were recorded, and serum levels of calcium, ionized calcium, phosphorus, alkaline phosphatase, 25-hydroxyvitamin D, and intact parathyroid hormone (PTH) were analyzed. Vitamin D deficiency (< 20 ng/mL) was observed in 87.0% of the patients compared to 45.5% of the controls (P < 0.05) during the summer-fall season. During the winter-spring season, 91.7% of the patients and 73.4% of the controls were deficient (P < 0.05). A strong positive correlation was found between onset age of the first paralytic attack and vitamin D levels (r = 0.78, P < 0.01). Conversely, the frequency and duration of paralytic attacks were negatively correlated with vitamin D levels (r = -0.82 and r = -0.65, P < 0.01, respectively). Age, BMI, age at onset, frequency and duration of attacks, and PTH levels were independently associated with vitamin D levels (ß = -0.10, -0.12, 0.19, -0.27, -0.21, and -0.13, P < 0.05, respectively).
Vitamin D deficiency was highly prevalent in children with HOKPP, and vitamin D levels correlated with various disease characteristics. We recommend routine screening for vitamin D levels in these patients to address this prevalent deficiency. Considering the high prevalence of vitamin D deficiency observed, further research on other diseases characterized by reversible immobility is warranted.
• A correlation between immobility and low serum vitamin D levels has been established. However, the vitamin D status of patients with familial hypokalemic periodic paralysis (HOKPP) who experience periods of reversible immobility remains unknown.
• Vitamin D deficiency was highly prevalent in children with HOKPP, and vitamin D levels correlated with various disease characteristics.
家族性低钾性周期性麻痹（HOKPP）患者会经历可逆性肢体不能活动的发作，且阳光照射受限的风险增加，这可能导致维生素D缺乏。然而，关于该人群维生素D水平的数据尚缺。我们调查了HOKPP患儿的血清维生素D水平及其相关因素。本研究纳入了170名经基因确诊的3至18岁HOKPP患儿，以及来自韩国通道病研究的170名年龄、性别和体重指数（BMI）匹配的健康对照者，该研究为前瞻性对照研究。记录人体测量学和临床特征，并分析血清钙、离子钙、磷、碱性磷酸酶、25-羟基维生素D和完整甲状旁腺激素（PTH）水平。在夏秋季节，87.0%的患者存在维生素D缺乏（<20 ng/mL），而对照组为45.5%（P<0.05）。在冬春季节，91.7%的患者和73.4%的对照组存在维生素D缺乏（P<0.05）。首次麻痹发作的起始年龄与维生素D水平之间存在强正相关（r = 0.78，P<0.01）。相反，麻痹发作的频率和持续时间与维生素D水平呈负相关（r分别为-0.82和-0.65，P<0.01）。年龄、BMI、发病年龄、发作频率和持续时间以及PTH水平均与维生素D水平独立相关（β分别为-0.10、-0.12、0.19、-0.27、-0.21和-0.13，P<0.05）。
维生素D缺乏在HOKPP患儿中非常普遍，且维生素D水平与多种疾病特征相关。我们建议对这些患者进行维生素D水平的常规筛查，以解决这种普遍存在的缺乏问题。鉴于观察到的维生素D缺乏的高患病率，有必要对以可逆性肢体不能活动为特征的其他疾病进行进一步研究。
• 已证实肢体不能活动与血清维生素D水平低之间存在关联。然而，经历可逆性肢体不能活动期的家族性低钾性周期性麻痹（HOKPP）患者的维生素D状况仍不清楚。
• 维生素D缺乏在HOKPP患儿中非常普遍，且维生素D水平与多种疾病特征相关。
