Department of Pediatrics, Division of Nephrology and Rheumatology, İzmir Katip Çelebi University, İzmir, Turkey
Department of Pediatrics Division of Nephrology, Tepecik Training and Research Hospital, Health Sciences University, İzmir, Turkey
Turk J Med Sci. 2021 Apr 30;51(2):772-777. doi: 10.3906/sag-2009-79.
BACKGROUND/AIM: In children with autosomal dominant polycystic kidney disease (ADPKD), clinical manifestations range from severe neonatal presentation to renal cysts found by chance. We aimed to evaluate demographic, clinical, laboratory findings, and genetic analysis of children with ADPKD.
We evaluated children diagnosed with ADPKD between January 2006 and January 2019. The diagnosis was established by family history, ultrasound findings, and/or genetic analysis. The demographic, clinical, and laboratory findings were evaluated retrospectively. Patients <10 years and ≥10 years at the time of diagnosis were divided into 2 groups and parameters were compared between the groups.
There were 41 children (M/F: 18/23) diagnosed with ADPKD. The mean age at diagnosis was 7.2 ± 5.1 (0.6–16.9) years and the follow-up duration was 59.34 ± 40.56 (8–198) months. Five patients (12%) were diagnosed as very early onset ADPKD. All patients had a positive family history. Genetic analysis was performed in 29 patients (PKD1 mutations in 21, PKD2 mutations in 1, no mutation in 3). Cysts were bilateral in 35 (85%) of the patients. Only one patient had hepatic cysts. No valvular defect was defined in 12 patients detected. Only 1 patient had hypertension. None of them had chronic kidney disease. No difference could be demonstrated in sex, laterality of the cysts, maximum cyst diameter, cyst or kidney enlargement, follow-up duration, or GFR at last visit between Groups 1 and 2.
The majority of children with ADPKD had preserved renal functions and slight cyst enlargement during their follow-up. However, they may have different renal problems deserving closed follow-up.
背景/目的：常染色体显性遗传性多囊肾病（ADPKD）患儿的临床表现范围从严重的新生儿表现到偶然发现的肾囊肿不等。我们旨在评估 ADPKD 患儿的人口统计学、临床、实验室检查结果和基因分析。
我们评估了 2006 年 1 月至 2019 年 1 月期间诊断为 ADPKD 的儿童。通过家族史、超声检查结果和/或基因分析确定诊断。回顾性评估人口统计学、临床和实验室检查结果。将诊断时年龄<10 岁和≥10 岁的患者分为 2 组，并对组间参数进行比较。
共诊断出 41 例 ADPKD 患儿（男/女：18/23）。诊断时的平均年龄为 7.2±5.1（0.6-16.9）岁，随访时间为 59.34±40.56（8-198）个月。5 例（12%）患者诊断为极早发性 ADPKD。所有患者均有阳性家族史。对 29 例患者进行了基因分析（PKD1 突变 21 例，PKD2 突变 1 例，无突变 3 例）。35 例患者（85%）为双侧囊肿。仅 1 例患者有肝囊肿。在 12 例被检测的患者中未发现瓣膜缺陷。仅 1 例患者有高血压。他们均无慢性肾脏病。最后一次就诊时，两组间的性别、囊肿的侧别、最大囊肿直径、囊肿或肾脏增大、随访时间或肾小球滤过率均无差异。
大多数 ADPKD 患儿在随访期间肾功能正常，囊肿轻度增大。然而，他们可能存在需要密切随访的不同肾脏问题。
