Fukunaga Shohei, Kamei Fumika, Sonoda Hirotaka, Oba Masafumi, Kawanishi Miharu, Egawa Masahiro, Ito Takafumi, Tanabe Kazuaki
Internal Medicine IV, Shimane University Faculty of Medicine, Izumo, JPN.
Cureus. 2021 Oct 8;13(10):e18595. doi: 10.7759/cureus.18595. eCollection 2021 Oct.
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disease. Although abdominal echography during medical checkup may be effective for the early detection of ADPKD, there are no reports of the early detection of ADPKD during medical checkup. We investigated whether there was a difference in renal function and total kidney volume (TKV) at the time of diagnosis due to differences in diagnostic triggers for ADPKD.
A total of 34 patients diagnosed with ADPKD between January 1, 2010, and December 31, 2020, at the Department of Nephrology, Shimane University Hospital, were included. The triggers for diagnosis of the renal cyst(s) were usually unintentional findings. These included findings observed upon routine medical checkups, computed tomography, or abdominal echography during examination for other diseases (incidental detection group) and cases referred to our department for renal dysfunction (renal dysfunction group), and "other" group. We compared the renal dysfunction group and the incidental detection group.
The estimated glomerular filtration rate (eGFR) at diagnosis was significantly higher in the incidental detection group. The TKV was significantly lower in the incidental detection group than in the other group. The number of patients with eGFR > 45 mL/min/1.73 m, for which tolvaptan was safe and effective, was significantly higher in the incidental detection group than in the renal dysfunction group.
Our study shows that medical checkup enables early detection of ADPKD. This is important because ADPKD may have serious complications. The present study did not examine the age at which abdominal echography screening for the early detection of ADPKD was more useful or cost-effective; thus, further research is needed to ascertain this.
常染色体显性遗传性多囊肾病（ADPKD）是最常见的遗传性肾病。尽管体检时的腹部超声检查可能对ADPKD的早期检测有效，但尚无关于在体检时早期检测出ADPKD的报道。我们研究了由于ADPKD诊断触发因素的不同，诊断时肾功能和总肾体积（TKV）是否存在差异。
纳入2010年1月1日至2020年12月31日期间在岛根大学医院肾内科诊断为ADPKD的34例患者。肾囊肿的诊断触发因素通常是偶然发现。这些包括在常规体检、计算机断层扫描或检查其他疾病时的腹部超声检查中观察到的结果（偶然发现组）以及因肾功能不全转诊至我科的病例（肾功能不全组）和“其他”组。我们比较了肾功能不全组和偶然发现组。
偶然发现组诊断时的估计肾小球滤过率（eGFR）显著更高。偶然发现组的TKV显著低于其他组。对于托伐普坦安全有效的eGFR>45 mL/min/1.73 m²的患者数量，偶然发现组显著高于肾功能不全组。
我们的研究表明体检能够早期检测出ADPKD。这很重要，因为ADPKD可能会有严重并发症。本研究未探讨腹部超声筛查ADPKD早期检测更有用或更具成本效益的年龄；因此，需要进一步研究来确定这一点。
