背景:小儿囊性肾病(CyKD)包括以肾囊肿为特征的病症。尽管在这一领域进行了广泛的研究,没有可靠的遗传学或其他生物标志物来估计表型后果.因此,儿童CyKD严重依赖于临床和诊断测试来预测长期结果。
目的:一项回顾性研究旨在提供这种情况的简要概述,并分析来自12年随访期间的单中心儿科CyKD队列的真实数据。
方法:对病历进行了广泛的临床,实验室,和放射学数据,治疗方法,和长期结果。
结果:在研究期间,112例患者接受了小儿CyKD的诊断。男性患者比女性患者更多(1:0.93)。56例患者患有多囊性肾脏发育不良;其中21例患有常染色体显性遗传性疾病;15例患有孤立性肾囊肿;10例被诊断为常染色体隐性遗传性多囊肾病;3例患有结节性硬化症;两名患者分别患有Bardet-Biedl,Joubert综合征,和肾phronophthis;其中一人被诊断出患有13三体病。17.9%的病人进行基因检测,在四分之三(75.0%)的受试患者中发现了致病突变。最常见的症状是腹胀(21.4%),腹痛(15.2%),和羊水过少(百分之二点五)。在四分之一的患者中记录了复发性尿路感染(UTI),而20.5%的患者在长期随访期间出现高血压。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人最终达到终末期肾病(ESRD)。从在超声(US)上最初检测到囊肿到整个队列中CKD发作的时间为59.0(7.0-31124.0)个月,而在整个队列中,从在US上检测到囊肿到ESRD发作的持续时间为127.0(33.0~141.0)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具有临床症状。
结论:本研究是克罗地亚报告的第一个大型患者队列。最常见的CyKD是多囊性发育不良肾脏疾病。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尿路感染,高血压,CKD,和ESRD。
BACKGROUND: 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.
OBJECTIVE: 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.
METHODS: Medical records were reviewed for extensive clinical, laboratory, and radiological data, treatment approaches, and long-term outcomes.
RESULTS: 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.
CONCLUSIONS: 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.