肾小管酸中毒儿童的人口统计学、临床和实验室特征

Aybüke Yazıcı, Nilgün Çakar
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摘要

本研究纳入了1991年至2012年间因原发性肾小管酸中毒(RTA)而接受随访的患者。研究记录了患者发病时的临床特征、体格检查结果、实验室检查结果和治疗方法。在随访的第一年中,每三个月记录一次患者的实验室结果、药物剂量、身高和体重。确定身高和体重的年龄标准差分数(Z-scores),并评估患者的生长速度。在随访的 50 名原发性 RTA 患者中,31 人(62%)患有远端 RTA,19 人(38%)患有近端 RTA。远端 RTA 患者的中位诊断年龄为 3 个月(范围为 1-174 个月),近端 RTA 患者的中位诊断年龄为 10 个月(范围为 2-33 个月)。这两组患者的中位随访时间分别为 96 个月(6-204 个月)和 89 个月(6-180 个月)。远端 RTA 患者的 RTA 家族史比近端 RTA 患者更常见(P=0.013)。远端 RTA 组中肾癌和耳聋的发病率更高(P=0.001),而近端 RTA 组中眼部病变的发病率更高(P<0.001)。在远端 RTA 患者中,诊断年龄越大,体重和身高 Z 评分越低(p<0.05)。早期诊断对原发性RTA患者的生长有积极影响。
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Demographic, Clinical, and Laboratory Characteristics of Children with Renal Tubular Acidosis
This study included patients followed up for primary renal tubular acidosis (RTA) between 1991 and 2012. Clinical characteristics at presentation, physical examination findings, laboratory test results, and treatments were recorded. The patients’ laboratory results, drug doses, height, and weight were recorded every 3 months for the first year of follow-up. Standard deviation scores (Z-scores) of height and weight for age were determined and the patients’ growth rates were evaluated. Of 50 patients followed up for primary RTA, 31 (62%) had distal RTA and 19 (38%) had proximal RTA. The median age at diagnosis was 3 months (range, 1-174 months) for patients with distal RTA and 10 months (range, 2-33 months) for patients with proximal RTA. The median follow-up times in these two groups were 96 months (range, 6-204 months) and 89 months (range, 6-180 months), respectively. Family history of RTA was more common among patients with distal RTA than those with proximal RTA (p=0.013). Nephrocalcinosis and deafness were detected more frequently in the distal RTA group (p=0.001), while ocular pathologies were more common in the proximal RTA group (p<0.001). In patients with distal RTA, older age at diagnosis was associated with lower weight and height Z-scores (p<0.05). Early diagnosis had a positive effect on the growth of patients with primary RTA.
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