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Abstract：
BACKGROUND: Factors related to the development and severity of polycystic liver disease (PLD) have not been well established. We aimed to evaluate the genetic and epidemiologic risk factors of PLD in patients with autosomal dominant polycystic kidney disease (ADPKD).
METHODS: Adult patients with inherited cystic kidney disease were enrolled from May 2019 to May 2021. Demographic, clinical, and laboratory data were collected at the initial study visit. The severity of PLD was graded based on the height-adjusted total liver volume: < 1,000 mL/m (Gr1), 1,000-1,800 mL/m (Gr2), and > 1,800 mL/m (Gr3). Targeted exome sequencing was done by a gene panel including 89 ciliopathy-related genes. We searched out the relative factors to the presence and the severity of PLD using logistic regression analysis.
RESULTS: Of 602 patients with typical ADPKD, 461 (76.6%) patients had PLD. The patients with PLD showed female predominance and a higher frequency of other ADPKD-related complications. The genetic variants with truncating mutation of PKD1 (PKD1-protein-truncating [PT]) or PKD2 commonly affected the development and severity of PLD. An older age, female sex, and higher kidney volume with Mayo classification 1C-1E was significantly associated with the development of PLD, but not with the severity of PLD. On the other hand, higher body mass index, lower hemoglobin, and higher alkaline phosphatase (ALP) were the significant risk factors of severe PLD (≥ Gr2).
CONCLUSIONS: Hepatic involvement in ADPKD could be related to kidney manifestations and genetic variants including PKD1-PT or PKD2. Monitoring hemoglobin and ALP and evaluating the genetic variants might help predict severe PLD.
BACKGROUND: Clinical Research Information Service Identifier: KCT0005580.
METHODS: Adult patients with inherited cystic kidney disease were enrolled from May 2019 to May 2021. Demographic, clinical, and laboratory data were collected at the initial study visit. The severity of PLD was graded based on the height-adjusted total liver volume: < 1,000 mL/m (Gr1), 1,000-1,800 mL/m (Gr2), and > 1,800 mL/m (Gr3). Targeted exome sequencing was done by a gene panel including 89 ciliopathy-related genes. We searched out the relative factors to the presence and the severity of PLD using logistic regression analysis.
RESULTS: Of 602 patients with typical ADPKD, 461 (76.6%) patients had PLD. The patients with PLD showed female predominance and a higher frequency of other ADPKD-related complications. The genetic variants with truncating mutation of PKD1 (PKD1-protein-truncating [PT]) or PKD2 commonly affected the development and severity of PLD. An older age, female sex, and higher kidney volume with Mayo classification 1C-1E was significantly associated with the development of PLD, but not with the severity of PLD. On the other hand, higher body mass index, lower hemoglobin, and higher alkaline phosphatase (ALP) were the significant risk factors of severe PLD (≥ Gr2).
CONCLUSIONS: Hepatic involvement in ADPKD could be related to kidney manifestations and genetic variants including PKD1-PT or PKD2. Monitoring hemoglobin and ALP and evaluating the genetic variants might help predict severe PLD.
BACKGROUND: Clinical Research Information Service Identifier: KCT0005580.
摘要：
背景：与多囊肝病（PLD）的发展和严重程度相关的因素尚未得到很好的确定。我们旨在评估常染色体显性遗传性多囊肾病（ADPKD）患者PLD的遗传和流行病学危险因素。
方法：从2019年5月至2021年5月纳入患有遗传性囊性肾病的成年患者。人口统计,临床,和实验室数据在初次研究访视时收集.PLD的严重程度根据高度调整的总肝脏体积进行分级：<1,000mL/m（Gr1），1,000-1,800mL/m(Gr2),且>1,800mL/m(Gr3)。靶向外显子组测序由包括89个纤毛病相关基因的基因组完成。我们使用逻辑回归分析来搜索PLD的存在和严重程度的相关因素。
结果：在602例典型ADPKD患者中，461例(76.6%)患者存在PLD。PLD患者以女性为主，其他ADPKD相关并发症发生率较高。具有PKD1截短突变（PKD1-蛋白截短[PT]）或PKD2的遗传变异通常会影响PLD的发展和严重程度。年纪大了,女性性别,Mayo分类为1C-1E的较高肾脏体积与PLD的发展显着相关，但与PLD的严重程度无关。另一方面,较高的体重指数，低血红蛋白，碱性磷酸酶（ALP）升高是严重PLD（≥Gr2）的重要危险因素。
结论：ADPKD的肝脏受累可能与肾脏表现和包括PKD1-PT或PKD2在内的遗传变异有关。监测血红蛋白和ALP并评估遗传变异可能有助于预测严重的PLD。
背景：临床研究信息服务标识符：KCT0005580。
方法：从2019年5月至2021年5月纳入患有遗传性囊性肾病的成年患者。人口统计,临床,和实验室数据在初次研究访视时收集.PLD的严重程度根据高度调整的总肝脏体积进行分级：<1,000mL/m（Gr1），1,000-1,800mL/m(Gr2),且>1,800mL/m(Gr3)。靶向外显子组测序由包括89个纤毛病相关基因的基因组完成。我们使用逻辑回归分析来搜索PLD的存在和严重程度的相关因素。
结果：在602例典型ADPKD患者中，461例(76.6%)患者存在PLD。PLD患者以女性为主，其他ADPKD相关并发症发生率较高。具有PKD1截短突变（PKD1-蛋白截短[PT]）或PKD2的遗传变异通常会影响PLD的发展和严重程度。年纪大了,女性性别,Mayo分类为1C-1E的较高肾脏体积与PLD的发展显着相关，但与PLD的严重程度无关。另一方面,较高的体重指数，低血红蛋白，碱性磷酸酶（ALP）升高是严重PLD（≥Gr2）的重要危险因素。
结论：ADPKD的肝脏受累可能与肾脏表现和包括PKD1-PT或PKD2在内的遗传变异有关。监测血红蛋白和ALP并评估遗传变异可能有助于预测严重的PLD。
背景：临床研究信息服务标识符：KCT0005580。
