Gimpel Charlotte, Schaefer Susanne, Schaefer Franz
Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Praxis Für Kinderkardiologie Und Kindernephrologie, Medizinisches Versorgungszentrum Des Klinikum Konstanz, Constance, Germany.
Pediatr Nephrol. 2025 Sep 18. doi: 10.1007/s00467-025-06795-1.
Pediatric chronic kidney disease (CKD) causes significantly impaired health-related quality of life (hrQOL) and caregiver burden, but no studies focus specifically on autosomal recessive polycystic kidney disease (ARPKD).
This prospective case-control study assessed hrQOL (using PedsQL®ESRD) and screened for psychosocial problems (strength and difficulties questionnaire (SDQ)) in 43 children with ARPKD. Fifty-eight caregivers reported on the disease's impact on family (FaBel) and their own QOL (Ulm inventory of parental caregiver QOL (ULQIE)). As controls, we questioned 36 matched healthy children and 57 parents under similar pandemic restrictions and used published historical controls (healthy and with advanced CKD).
Patients were aged 9.0 ± 4.8 years with CKD stage G1-4 (45%), on dialysis (14%) or after kidney transplantation (26%). Nine patients had developmental delay secondary to medical complications. PedsQL®ESRD total scores correlated significantly to kidney function, but could not capture liver-specific symptoms. All 4 measures showed significant differences between treatment modalities with best scores in patients during CKD stages G1-4 and worst on dialysis, except SDQ, which was worst after transplantation. The most significant extra-renal risk factor for all 4 scores was developmental delay of the child. SDQ scores were elevated in contemporary vs. historical controls, but even further in ARPKD especially for peer relationship problems.
In summary, ARPKD causes significantly impaired hrQOL, psychosocial problems and caregiver burden, which were equal to, if not greater than, that of controls with more advanced kidney failure. Treatment modality and developmental delay were the most important risk factors.
Trial registered 06/2020 DRKS S00021059.
儿童慢性肾脏病（CKD）会导致与健康相关的生活质量（hrQOL）显著受损以及照顾者负担加重，但尚无研究专门聚焦于常染色体隐性多囊肾病（ARPKD）。
这项前瞻性病例对照研究评估了43例ARPKD患儿的hrQOL（使用儿童终末期肾病生活质量量表（PedsQL®ESRD）），并筛查心理社会问题（长处与困难问卷（SDQ））。58名照顾者报告了该疾病对家庭的影响（家庭影响问卷（FaBel））以及他们自己的生活质量（乌尔姆父母照顾者生活质量量表（ULQIE））。作为对照，我们在类似的疫情限制条件下询问了36名匹配的健康儿童和57名父母，并使用已发表的历史对照（健康儿童和晚期CKD儿童）。
患者年龄为9.0±4.8岁，CKD分期为G1 - 4期（45%），正在接受透析（14%）或已接受肾移植（26%）。9例患者因医疗并发症出现发育迟缓。儿童终末期肾病生活质量量表（PedsQL®ESRD）总分与肾功能显著相关，但无法体现肝脏特异性症状。所有4项指标在不同治疗方式之间均显示出显著差异，CKD G1 - 4期患者得分最佳，透析患者得分最差，但长处与困难问卷（SDQ）除外，移植后该问卷得分最差。所有4项评分最显著的肾外危险因素是儿童发育迟缓。与历史对照相比，当代对照的长处与困难问卷（SDQ）得分升高，但ARPKD患者得分升得更高，尤其是在同伴关系问题方面。
总之，ARPKD会导致hrQOL显著受损、心理社会问题及照顾者负担加重，即便不比更晚期肾衰竭对照者严重，至少也与之相当。治疗方式和发育迟缓是最重要的危险因素。
试验于2020年6月注册，德国临床试验注册中心编号DRKS S00021059。
