Alport Syndrome (AS) is the most common genetic glomerular disease caused by mutations that affect Type IV collagen. However, the clinical characteristics and significance of AS with kidney cysts are not well defined. This study investigated the prevalence and clinical significance of cystic kidney phenotype in AS. Retrospective cohort study. & Participants: One hundred-eight patients with AS and a comparison cohort of 79 patients with IgA Nephropathy (IgAN). Clinical, genetic, and imaging data were collected from medical records. Cystic kidney phenotype evaluated by ultrasonography and defined as the presence of ≥3 cysts in each kidney. Demographic characteristics and eGFR at disease onset. Cystic kidney phenotype in the AS and IgAN cohorts. Time to CKD stage 3b and longitudinal changes in eGFR in the AS cohort. Logistic regression analysis to test independent strengths of associations of clinical/demographic features with the binary outcome of cystic phenotype. Survival analysis for the outcome of reaching CKD stage 3b and linear mixed models for changes in eGFR over time in the AS cohort. We studied 108 patients with AS; 76 (70%) had genetic diagnosis. Autosomal dominant AS was prevalent, accounting for 68% of patients with genetic diagnosis. Cystic kidney phenotype was observed in 38% of patients with AS and was associated with normal sized kidneys in all but 3 patients, who showed increased total kidney volume, mimicking autosomal dominant polycystic kidney disease (ADPKD). The prevalence of cystic kidney phenotype was significantly higher in patients with AS when compared to comparison group of patients with IgAN (42% vs 19%; p=0.002). Patients with cystic kidney phenotype were older and had more marked reductions in eGFR than patients without cystic changes. Among patients with AS, the cystic phenotype was associated with older age and a faster decline eGFR. Retrospective, single-center study. Cystic kidney phenotype is a common finding in AS. The cystic kidney phenotype is a common finding in AS suggesting a possible role in cystogenesis for the genetic variants that cause this disease.

中文翻译：

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阿尔波特综合征囊性表型的临床意义

阿尔波特综合征 (AS) 是最常见的遗传性肾小球疾病，由影响 IV 型胶原蛋白的突变引起。然而，AS伴肾囊肿的临床特征和意义尚不明确。本研究调查了 AS 囊性肾表型的患病率和临床意义。回顾性队列研究。 & 参与者：18 名 AS 患者和 79 名 IgA 肾病 (IgAN) 患者组成的对照组。从医疗记录中收集临床、遗传和影像数据。通过超声检查评估囊性肾表型，定义为每个肾脏中存在≥3个囊肿。疾病发作时的人口统计特征和 eGFR。 AS 和 IgAN 队列中的囊性肾表型。 AS 队列中达到 CKD 3b 期的时间和 eGFR 的纵向变化。逻辑回归分析用于测试临床/人口统计学特征与囊性表型二元结果之间关联的独立强度。对达到 CKD 3b 期结果的生存分析以及 AS 队列中 eGFR 随时间变化的线性混合模型。我们研究了 108 名 AS 患者； 76 人（70%）进行了基因诊断。常染色体显性遗传性AS很常见，占遗传诊断患者的68%。 38% 的 AS 患者观察到囊性肾表型，除 3 名患者外，所有患者均与正常大小的肾脏相关，这 3 名患者的肾脏总体积增加，类似于常染色体显性多囊肾病 (ADPKD)。与 IgAN 患者对照组相比，AS 患者囊性肾表型的患病率显着更高（42% vs 19%；p=0.002）。与无囊性改变的患者相比，有囊性肾表型的患者年龄较大，eGFR 降低更明显。在 AS 患者中，囊性表型与年龄较大和 eGFR 下降更快有关。回顾性、单中心研究。囊性肾表型是 AS 的常见表现。囊性肾表型是 AS 的常见发现，表明导致这种疾病的遗传变异在囊性发生中可能发挥作用。