Yilmaz Kubra, Saygili Seha, Canpolat Nur, Akgun-Dogan Ozlem, Yuruk Yildirim Zeynep Nagehan, Cicek-Oksuz Rumeysa Yasemin, Oner Huseyin Adil, Aksu Bagdagul, Akyel Nazli Gulsum, Oguzhan-Hamis Ozge, Dursun Hasan, Yavuz Sevgi, Cicek Neslihan, Akinci Nurver, Karabag Yilmaz Esra, Agbas Ayse, Nayir Ahmet Nevzat, Konukoglu Dildar, Kurugoglu Sebuh, Sever Lale, Caliskan Salim
Department of Pediatrics, Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Türkiye.
Department of Pediatric Nephrology, Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Türkiye.
Front Pediatr. 2024 Feb 23;12:1357365. doi: 10.3389/fped.2024.1357365. eCollection 2024.
In the pediatric context, most children with autosomal dominant polycystic kidney disease (ADPKD) maintain a normal glomerular filtration rate (GFR) despite underlying structural kidney damage, highlighting the critical need for early intervention and predictive markers. Due to the inverse relationship between kidney volume and kidney function, risk assessments have been presented on the basis of kidney volume. The aim of this study was to use magnetic resonance imaging (MRI)-based kidney volume assessment for risk stratification in pediatric ADPKD and to investigate clinical and genetic differences among risk groups.
This multicenter, cross-sectional, and case-control study included 75 genetically confirmed pediatric ADPKD patients (5-18 years) and 27 controls. Kidney function was assessed by eGFR calculated from serum creatinine and cystatin C using the CKiD-U25 equation. Blood pressure was assessed by both office and 24-hour ambulatory measurements. Kidney volume was calculated from MRI using the stereological method. Total kidney volume was adjusted for the height (htTKV). Patients were stratified from A to E classes according to the Leuven Imaging Classification (LIC) using MRI-derived htTKV.
Median (Q1-Q3) age of the patients was 6.0 (2.0-10.0) years, 56% were male. There were no differences in sex, age, height-SDS, or GFR between the patient and control groups. Of the patients, 89% had PKD1 and 11% had PKD2 mutations. Non-missense mutations were 73% in PKD1 and 75% in PKD2. Twenty patients (27%) had hypertension based on ABPM. Median htTKV of the patients was significantly higher than controls (141 vs. 117 ml/m, = 0.0003). LIC stratification revealed Classes A (38.7%), B (28%), C (24%), and D + E (9.3%). All children in class D + E and 94% in class C had PKD1 variants. Class D + E patients had significantly higher blood pressure values and hypertension compared to other classes ( > 0.05 for all).
This study distinguishes itself by using MRI-based measurements of kidney volume to stratify pediatric ADPKD patients into specific risk groups. It is important to note that PKD1 mutation and elevated blood pressure were higher in the high-risk groups stratified by age and kidney volume. Our results need to be confirmed in further studies.
在儿科领域，大多数常染色体显性多囊肾病（ADPKD）患儿尽管存在潜在的肾脏结构损伤，但肾小球滤过率（GFR）仍保持正常，这凸显了早期干预和预测标志物的迫切需求。由于肾脏体积与肾功能呈负相关，已基于肾脏体积进行了风险评估。本研究的目的是利用基于磁共振成像（MRI）的肾脏体积评估对儿科ADPKD进行风险分层，并研究风险组之间的临床和基因差异。
这项多中心、横断面病例对照研究纳入了75例基因确诊的儿科ADPKD患者（5 - 18岁）和27例对照。通过使用CKiD - U25方程根据血清肌酐和胱抑素C计算的估算肾小球滤过率（eGFR）评估肾功能。通过诊室测量和24小时动态测量评估血压。使用体视学方法从MRI计算肾脏体积。根据身高调整总肾脏体积（htTKV）。使用MRI衍生的htTKV根据鲁汶影像分类（LIC）将患者分为A至E类。
患者的中位（Q1 - Q3）年龄为6.0（2.0 - 10.0）岁，56%为男性。患者组和对照组在性别、年龄、身高标准差分值（SDS）或GFR方面无差异。在患者中，89%有PKD1突变，11%有PKD2突变。PKD1中的非错义突变率为73%，PKD2中的为75%。基于动态血压监测（ABPM），20例患者（27%）患有高血压。患者的中位htTKV显著高于对照组（141 vs. 117 ml/m，P = 0.0003）。LIC分层显示A类（38.7%）、B类（28%）、C类（24%）和D + E类（9.3%）。D + E类的所有儿童和C类的94%有PKD1变异。与其他类相比，D + E类患者的血压值和高血压发生率显著更高（所有P > 0.05）。
本研究的独特之处在于使用基于MRI的肾脏体积测量将儿科ADPKD患者分层为特定风险组。需要注意的是，在按年龄和肾脏体积分层的高风险组中，PKD1突变和血压升高更为常见。我们的结果需要在进一步研究中得到证实。
