Challenge in pathologic diagnosis of Alport syndrome: evidence from correction of previous misdiagnosis.
Challenge in pathologic diagnosis of Alport syndrome: evidence from correction of previous misdiagnosis.
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DOI：
10.1186/1750-1172-7-100
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发表时间：
2012-12-21
影响因子：
3.7
通讯作者：
Liu ZH
中科院分区：
文献类型：
--
作者：
Yao XD;Chen X;Huang GY;Yu YT;Xu ST;Hu YL;Wang QW;Chen HP;Zeng CH;Ji DX;Hu WX;Tang Z;Liu ZH
除了基因分型外，病理学检查在评估Alport综合征患者中起重要作用。Alport综合征（AS）的诊断仍存在困难，误诊并不少见，即使在成人患者中也有肾活检的结果。我们采用巢式病例对照研究方法，对中国Alport综合征治疗和结局登记系统中的52例既往误诊和52例初诊患者进行调查。误诊以系膜增生性肾小球肾炎（MsPGN，26.9%）和局灶节段性肾小球硬化（FSGS，19.2%）最多。FSGS在女性X连锁AS（fXLAS）患者中误诊率最高（34.8%），MsPGN在男性X连锁AS（mXLAS）患者中误诊率最高（41.2%）。既往误诊的mXLAS患者（13/17，76.5%）和常染色体隐性AS（ARAS）患者（8/12，66.7%）在第二次肾活检后得到纠正。而误诊的fXLAS患者（18/23，78.3%）在随访期间经家庭成员诊断（34.8%）或复查电镜和/或IV型胶原α链免疫荧光（COL-IF）（43.5%）后得到纠正。将COL-IF作为AS诊断的附加标准，我们发现达到3个标准以下的患者误诊风险增加（所有误诊的AS患者为3.29倍，fXLAS患者为3.90倍）。我们强调在AS患者的病理评估中，应及时和仔细地研究电子显微镜和COL-IF。以肾脏和（或）皮肤COL-IF为辅助诊断标准，达到3项诊断标准为AS病理诊断的临界值。
Pathologic studies play an important role in evaluating patients with Alport syndrome besides genotyping. Difficulties still exist in diagnosing Alport syndrome (AS), and misdiagnosis is a not-so-rare event, even in adult patient evaluated with renal biopsy. We used nested case–control study to investigate 52 patients previously misdiagnosed and 52 patients initially diagnosed in the China Alport Syndrome Treatments and Outcomes Registry e-system. We found mesangial proliferative glomerulonephritis (MsPGN, 26.9%) and focal and segmental glomerulosclerosis (FSGS, 19.2%) were the most common misdiagnosis. FSGS was the most frequent misdiagnosis in female X-linked AS (fXLAS) patients (34.8%), and MsPGN in male X-linked AS (mXLAS) patients (41.2%). Previous misdiagnosed mXLAS patients (13/17, 76.5%) and autosomal recessive AS (ARAS) patients (8/12, 66.7%) were corrected after a second renal biopsy. While misdiagnosed fXLAS patients (18/23, 78.3%) were corrected after a family member diagnosed (34.8%) or after rechecking electronic microscopy and/or collagen-IV alpha-chains immunofluresence study (COL-IF) (43.5%) during follow-up. With COL-IF as an additional criterion for AS diagnosis, we found that patients with less than 3 criteria reached have increased risk of misdiagnosis (3.29-fold for all misdiagnosed AS patients and 3.90-fold for fXLAS patients). We emphasize timely and careful study of electronic microscopy and COL-IF in pathologic evaluation of AS patients. With renal and/or skin COL-IF as additional criterion, 3 diagnosis criteria reached are the cutoff for diagnosing AS pathologically.
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影响因子：
2.3
作者：
Pont-Kingdon G;Sumner K;Gedge F;Miller C;Denison J;Gregory M;Lyon E
通讯作者：
Lyon E
影响因子：
2.3
作者：
Mazzucco, G;De Marchi, M;Monga, G
通讯作者：
Monga, G
影响因子：
56.9
作者：
BARKER, DF;HOSTIKKA, SL;TRYGGVASON, K
通讯作者：
TRYGGVASON, K
DOI：
10.1056/nejmoa0910500
发表时间：
2010-07-22
期刊：
The New England journal of medicine
影响因子：
--
作者：
Pedchenko V;Bondar O;Fogo AB;Vanacore R;Voziyan P;Kitching AR;Wieslander J;Kashtan C;Borza DB;Neilson EG;Wilson CB;Hudson BG
通讯作者：
Hudson BG
影响因子：
5.2
作者：
Artuso, Rosangela;Fallerini, Chiara;Bruttini, Mirella
通讯作者：
Bruttini, Mirella