Grlić Sara, Gregurović Viktorija, Martinić Mislav, Davidović Maša, Kos Ivanka, Galić Slobodan, Fištrek Prlić Margareta, Vuković Brinar Ivana, Vrljičak Kristina, Lamot Lovro
Department of Pediatrics, School of Medicine, University of Zagreb, 10000 Zagreb, Croatia.
Department of Pediatrics, University Hospital Center Zagreb, 10000 Zagreb, Croatia.
Children (Basel). 2024 Mar 25;11(4):392. doi: 10.3390/children11040392.
Pediatric cystic kidney disease (CyKD) includes conditions characterized by renal cysts. Despite extensive research in this field, there are no reliable genetics or other biomarkers to estimate the phenotypic consequences. Therefore, CyKD in children heavily relies on clinical and diagnostic testing to predict the long-term outcomes.
A retrospective study aimed to provide a concise overview of this condition and analyze real-life data from a single-center pediatric CyKD cohort followed during a 12-year period.
Medical records were reviewed for extensive clinical, laboratory, and radiological data, treatment approaches, and long-term outcomes.
During the study period, 112 patients received a diagnosis of pediatric CyKD. Male patients were more involved than female (1:0.93). Fifty-six patients had a multicystic dysplastic kidney; twenty-one of them had an autosomal dominant disorder; fifteen had an isolated renal cyst; ten had been diagnosed with autosomal recessive polycystic kidney disease; three had the tuberous sclerosis complex; two patients each had Bardet-Biedl, Joubert syndrome, and nephronophthisis; and one had been diagnosed with the trisomy 13 condition. Genetic testing was performed in 17.9% of the patients, revealing disease-causing mutations in three-quarters (75.0%) of the tested patients. The most commonly presenting symptoms were abdominal distension (21.4%), abdominal pain (15.2%), and oligohydramnios (12.5%). Recurrent urinary tract infections (UTI) were documented in one-quarter of the patients, while 20.5% of them developed hypertension during the long-term follow-up. Antibiotic prophylaxis and antihypertensive treatment were the most employed therapeutic modalities. Seventeen patients progressed to chronic kidney disease (CKD), with thirteen of them eventually reaching end-stage renal disease (ESRD). The time from the initial detection of cysts on an ultrasound (US) to the onset of CKD across the entire cohort was 59.0 (7.0-31124.0) months, whereas the duration from the detection of cysts on an US to the onset of ESRD across the whole cohort was 127.0 (33.0-141.0) months. The median follow-up duration in the cohort was 3.0 (1.0-7.0) years. The patients who progressed to ESRD had clinical symptoms at the time of initial clinical presentation.
This study is the first large cohort of patients reported from Croatia. The most common CyKD was the multicystic dysplastic kidney disease. The most common clinical presentation was abdominal distention, abdominal pain, and oliguria. The most common long-term complications were recurrent UTIs, hypertension, CKD, and ESRD.
小儿囊性肾病（CyKD）包括以肾囊肿为特征的病症。尽管该领域已有广泛研究，但尚无可靠的遗传学或其他生物标志物来评估表型后果。因此，儿童CyKD严重依赖临床和诊断测试来预测长期预后。
一项回顾性研究旨在简要概述这种病症，并分析一个单中心小儿CyKD队列在12年期间的实际数据。
审查病历以获取广泛的临床、实验室、放射学数据、治疗方法和长期预后。
在研究期间，112例患者被诊断为小儿CyKD。男性患者比女性患者更多见（1:0.93）。56例患者患有多囊性发育不良肾；其中21例患有常染色体显性疾病；15例有孤立性肾囊肿；10例被诊断为常染色体隐性多囊肾病；3例患有结节性硬化症；2例患者分别患有巴德-比德尔综合征、乔伯特综合征和肾单位肾痨；1例被诊断为13三体综合征。17.9%的患者进行了基因检测，其中四分之三（75.0%）的受检患者检测到致病突变。最常见的症状是腹胀（21.4%）、腹痛（15.2%）和羊水过少（12.5%）。四分之一的患者记录有复发性尿路感染（UTI），而20.5%的患者在长期随访中出现高血压。抗生素预防和抗高血压治疗是最常用的治疗方式。17例患者进展为慢性肾脏病（CKD），其中13例最终发展为终末期肾病（ESRD）。整个队列中从超声（US）最初检测到囊肿到CKD发病的时间为59.0（7.0 - 31124.0）个月，而从US检测到囊肿到整个队列中ESRD发病的持续时间为127.0（33.0 - 741.0）个月。该队列的中位随访时间为3.0（1.0 - 7.0）年。进展为ESRD的患者在初次临床表现时就有临床症状。
本研究是克罗地亚报道的首个大型患者队列。最常见的CyKD是多囊性发育不良肾病。最常见的临床表现是腹胀、腹痛和少尿。最常见的长期并发症是复发性UTI、高血压、CKD和ESRD。
