Hölttä Tuula, Bonthuis Marjolein, Van Stralen Karlijn J, Bjerre Anna, Topaloglu Rezan, Ozaltin Fatih, Holmberg Christer, Harambat Jerome, Jager Kitty J, Schaefer Franz, Groothoff Jaap W
Department of Pediatric Nephrology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
ESPN/ERA-EDTA Registry, Department of Medical Informatics, Academic Medical Center, University of Amsterdam, PO Box 22700, 1100 DE, Amsterdam, The Netherlands.
Pediatr Nephrol. 2016 Dec;31(12):2317-2325. doi: 10.1007/s00467-016-3517-z. Epub 2016 Oct 20.
Congenital nephrotic syndrome (CNS) of the Finnish type, NPHS1, is the most severe form of CNS. Outcomes of renal replacement therapy (RRT) in NPHS1 patients in Europe were analysed using data from the ESPN/ERA-EDTA Registry. As NPHS1 is most prevalent in Finland and the therapeutic approach differs from that in many other countries, we compared outcomes in Finnish and other European patients.
NPHS1 mutations were confirmed in 170 children with CNS who initiated RRT (dialysis or renal transplantation) between 1991 and 2012. Finnish (n = 66) and non-Finnish NPHS1 patients (n = 104) were compared with respect to treatment policy, age at first RRT and renal transplantation (RTX), patient and graft survival, estimated glomerular filtration rate (eGFR) and growth. Age-matched patients with congenital anomalies of the kidney and urinary tract (CAKUT) served as controls.
Finnish NPHS1 patients were significantly younger than non-Finnish patients, both at the start of RRT and at the time of RTX. We found similar overall 5-year patient survival on RRT (91 %) and graft survival (89 %) in both NPHS1 groups and CAKUT controls. At the start of RRT, height standard deviation score (SDS) was higher in Finnish patients than in non-Finnish patients (mean [95 % CI]: -1.31 [-2.13 to -0.49] and -3.0 [-4.22 to -1.91], p < 0.01 respectively), but not at 5 years of age. At 5 years of age height and body mass index (BMI) SDS were similar to those of CAKUT controls.
Overall, 5-year patient and graft survival of both Finnish and non-Finnish NPHS1 patients on RRT were excellent and comparable with CAKUT patients with equally early RRT onset and was independent of the timing of RRT initiation and RTX.
芬兰型先天性肾病综合征（CNS），即NPHS1，是CNS最严重的形式。利用ESPN/ERA-EDTA注册中心的数据，对欧洲NPHS1患者的肾脏替代治疗（RRT）结果进行了分析。由于NPHS1在芬兰最为常见，且治疗方法与许多其他国家不同，我们比较了芬兰患者和其他欧洲患者的治疗结果。
对1991年至2012年间开始接受RRT（透析或肾移植）的170例CNS儿童进行NPHS1突变确认。比较芬兰（n = 66）和非芬兰NPHS1患者（n = 104）在治疗策略、首次RRT和肾移植（RTX）时的年龄、患者和移植物存活率、估计肾小球滤过率（eGFR）和生长情况。年龄匹配的先天性肾脏和尿路异常（CAKUT）患者作为对照。
芬兰NPHS1患者在开始RRT时和RTX时均显著低于非芬兰患者。我们发现，NPHS1两组和CAKUT对照组的5年总体患者存活率（91%）和移植物存活率（89%）相似。在开始RRT时，芬兰患者的身高标准差评分（SDS）高于非芬兰患者（平均值[95%CI]：-1.31[-2.13至-0.49]和-3.0[-4.22至-1.91]，p分别<0.01），但在5岁时并非如此。5岁时的身高和体重指数（BMI）SDS与CAKUT对照组相似。
总体而言，芬兰和非芬兰NPHS1患者接受RRT的5年患者和移植物存活率极佳，与同样早期开始RRT的CAKUT患者相当，且与RRT开始时间和RTX无关。
