PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis.
PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis.
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PKD2 相关常染色体显性多囊肾病：患病率、临床表现、突变谱和预后。
DOI：
10.1053/j.ajkd.2017.01.046
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发表时间：
2017-10
期刊：
影响因子：
--
通讯作者：
Le Meur Y
中科院分区：
文献类型：
--
作者：
Cornec-Le Gall E;Audrézet MP;Renaudineau E;Hourmant M;Charasse C;Michez E;Frouget T;Vigneau C;Dantal J;Siohan P;Longuet H;Gatault P;Ecotière L;Bridoux F;Mandart L;Hanrotel-Saliou C;Stanescu C;Depraetre P;Gie S;Massad M;Kersalé A;Séret G;Augusto JF;Saliou P;Maestri S;Chen JM;Harris PC;Férec C;Le Meur Y
PKD 2相关的常染色体显性多囊肾病（ADPKD）被广泛认为比PKD 1相关疾病的严重程度更轻，但缺乏描述该疾病确切负担的基于人群的研究。我们的目的是通过Genkyst队列重新研究PKD 2的患病率、临床表现、突变谱和预后。病例系列，2010年1月至2016年3月。Genkyst研究参与者是来自法国西部22个肾病中心的18岁以上的个体，根据Pei标准诊断为ADPKD或在没有家族史的情况下至少10个双侧肾囊肿。来自ExAC数据库的公开可用的全外显子组测序数据用于提供该疾病的遗传患病率的估计。PKD 1和PKD 2基因的分子分析。肾存活率，年龄和性别校正的估计肾小球滤过率。Genkyst队列包括293例PKD 2突变患者（203个家系）。在布列塔尼，接受肾脏病学随访的PKD 2患者对应于0.63（95% CI，0.54-0.72）/10，000，而在欧洲人群中，PKD 2遗传患病率计算为1.64（95% CI，1.10-3.51）/10，000居民。诊断时的中位年龄为42岁。38.9%的患者报告了侧腹疼痛; 31.1%的患者报告了肉眼血尿; 15.3%的患者报告了囊肿感染。年龄60岁时，终末期肾病（ESRD）的累积概率为9.8%（95% CI，5.2%-14.4%），而高血压的概率为75.2%（95% CI，68.5%-81.9%）。虽然性别对肾存活率没有影响，但男性的肾功能低于女性。非截短突变（n = 36）与较高的年龄校正估计肾小球滤过率相关。在18例结局更严重的患者（60岁以前的ESRD）中，44%的患者有可能导致早期进展为ESRD的相关疾病或肾病。年轻患者和表现为PKD 2相关疾病的较轻形式的患者可能不会被诊断或转诊到肾脏病中心。PKD 2相关ADPKD患者通常表现为轻度疾病。在肾功能加速退化的情况下，应排除伴随肾病。
PKD2-related autosomal dominant polycystic kidney disease (ADPKD) is widely acknowledged to be of milder severity than PKD1-related disease, but population-based studies depicting the exact burden of the disease are lacking. We aimed to revisit PKD2 prevalence, clinical presentation, mutation spectrum, and prognosis through the Genkyst cohort. Case series, January 2010 to March 2016. Genkyst study participants are individuals older than 18 years from 22 nephrology centers from western France with a diagnosis of ADPKD based on Pei criteria or at least 10 bilateral kidney cysts in the absence of a familial history. Publicly available whole-exome sequencing data from the ExAC database were used to provide an estimate of the genetic prevalence of the disease. Molecular analysis of PKD1 and PKD2 genes. Renal survival, age- and sex-adjusted estimated glomerular filtration rate. The Genkyst cohort included 293 patients with PKD2 mutations (203 pedigrees). PKD2 patients with a nephrology follow-up corresponded to 0.63 (95% CI, 0.54–0.72)/10,000 in Brittany, while PKD2 genetic prevalence was calculated at 1.64 (95% CI, 1.10–3.51)/10,000 inhabitants in the European population. Median age at diagnosis was 42 years. Flank pain was reported in 38.9%; macroscopic hematuria, in 31.1%; and cyst infections, in 15.3% of patients. At age 60 years, the cumulative probability of end-stage renal disease (ESRD) was 9.8% (95% CI, 5.2%–14.4%), whereas the probability of hypertension was 75.2% (95% CI, 68.5%–81.9%). Although there was no sex influence on renal survival, men had lower kidney function than women. Nontruncating mutations (n = 36) were associated with higher age-adjusted estimated glomerular filtration rates. Among the 18 patients with more severe outcomes (ESRD before age 60), 44% had associated conditions or nephropathies likely to account for the early progression to ESRD. Younger patients and patients presenting with milder forms of PKD2-related disease may not be diagnosed or referred to nephrology centers. Patients with PKD2-related ADPKD typically present with mild disease. In case of accelerated degradation of kidney function, a concomitant nephropathy should be ruled out.
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影响因子：
56.9
作者：
Mochizuki, T;Wu, GQ;Somlo, S
通讯作者：
Somlo, S
影响因子：
6.1
作者：
Neumann, Hartmut P. H.;Jilg, Cordula;Eng, Charis
通讯作者：
Eng, Charis
影响因子：
13.6
作者：
Hwang, Young-Hwan;Conklin, John;Pei, York
通讯作者：
Pei, York
影响因子：
6.1
作者：
Chebib, Fouad T.;Jung, Yeonsoon;El-Zoghby, Ziad M.
通讯作者：
El-Zoghby, Ziad M.
DOI：
10.1097/01.asn.0000061774.90975.25
发表时间：
2003-05-01
影响因子：
13.6
作者：
Magistroni, R;He, N;Pei, Y
通讯作者：
Pei, Y