Department of Nephrology, Guangzhou Women and Children's Medical Center, Guangzhou, China.
Department of Organ Transplantation, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China.
Urolithiasis. 2021 Oct;49(5):425-431. doi: 10.1007/s00240-021-01249-3. Epub 2021 Mar 15.
A retrospective statistical analysis of primary hyperoxaluria type 1 (PH1) in children from June 2016 to May 2019 was carried out to discover its clinical and molecular biological characteristics. Patients were divided into two groups (infant and noninfant) according to clinic type. There were 13 pediatric patients (male:female = 6:7) with PH1 in the cohort from 11 families (four of which were biological siblings from two families), whose median age of symptom onset was 12 months and median confirmed diagnosis age was 14 months. Infant type (6 patients) was the most common type. The infant type mortality rate (100%) was higher than the noninfant (14.3%) (p = 0.029). The incidence of renal failure in infant patients was 67%, while the noninfant was 14.3%. 8 of 10 patients with nephrocalcinosis (NC) (76.92%, 10/13) were diagnosed by radiological imaging examinations, including X-ray (3 patients), CT (4 patients) and MRI (1 patient). NC was an independent risk factor for renal insufficiency [OR 3.33, 95% CI (0.7-1.2)], p < 0.05). Nine types of AGXT gene mutations were found; 1 type, c.190A > T, were first reported here. The most common AGXT gene mutation was c.679_680del, which occurred in exon 6 (5 patients). The infant type is the most common type of pediatric PH, with a relatively higher ratio of renal failure at symptom onset and poor prognosis. NC is an independent risk factor leading to renal failure, and radiological imaging examination is recommended for patients with abnormal ultrasound examination to identify NC. AGXT gene detection is important for the diagnosis and treatment of PH1 in children.
对 2016 年 6 月至 2019 年 5 月期间的儿童 1 型原发性高草酸尿症（PH1）进行回顾性统计分析，以发现其临床和分子生物学特征。根据临床类型将患者分为两组（婴儿和非婴儿）。该队列中有 13 名 PH1 患儿（男：女=6：7），来自 11 个家庭（其中 4 个为来自 2 个家庭的生物学兄弟姐妹），其症状发作的中位年龄为 12 个月，中位确诊年龄为 14 个月。婴儿型（6 例）是最常见的类型。婴儿型死亡率（100%）高于非婴儿型（14.3%）（p=0.029）。婴儿患者肾衰竭的发生率为 67%，而非婴儿为 14.3%。10 例（76.92%，10/13）伴有肾钙质沉着症（NC）的患者通过影像学检查诊断，包括 X 线（3 例）、CT（4 例）和 MRI（1 例）。NC 是肾功能不全的独立危险因素[OR 3.33，95%CI（0.7-1.2）]，p<0.05）。发现了 9 种 AGXT 基因突变类型；其中 1 种，c.190A>T，为首次报道。最常见的 AGXT 基因突变是 c.679_680del，发生在 6 号外显子（5 例）。婴儿型是儿科 PH 最常见的类型，发病时肾衰竭的比例相对较高，预后较差。NC 是导致肾衰竭的独立危险因素，建议对超声检查异常的患者进行影像学检查以识别 NC。AGXT 基因突变检测对儿童 PH1 的诊断和治疗很重要。
