Adam Jennifer, Connor Thomas M F, Wood Katrina, Lewis David, Naik Ramesh, Gale Daniel P, Sayer John A
Newcastle Hospitals NHS Foundation Trust , Newcastle upon Tyne , UK.
West London Renal and Transplant Centre , Hammersmith Hospital , London , UK.
Clin Kidney J. 2014 Apr;7(2):197-200. doi: 10.1093/ckj/sft144. Epub 2013 Dec 18.
Alport syndrome (AS) is a familial glomerular disorder resulting from mutations in the genes encoding several members of the type IV collagen protein family. Despite advances in molecular genetics, renal biopsy remains an important initial diagnostic tool. Histological diagnosis is challenging as features may be non-specific, particularly early in the disease course and in females with X-linked disease. We present three families for whom there was difficulty in correctly diagnosing AS or thin basement membrane nephropathy as a result of misinterpretation of non-specific and incomplete histology. We highlight the importance of electron microscopy and immunofluorescence in improving diagnostic yield and also the hazard of interpreting a descriptive histological term as a diagnostic label. Molecular genetic testing allows a definitive diagnosis to be made in index patients and at-risk family members.
奥尔波特综合征（AS）是一种家族性肾小球疾病，由编码IV型胶原蛋白家族多个成员的基因突变引起。尽管分子遗传学取得了进展，但肾活检仍然是重要的初始诊断工具。组织学诊断具有挑战性，因为其特征可能是非特异性的，尤其是在疾病病程早期以及患有X连锁疾病的女性中。我们展示了三个家庭，由于对非特异性和不完整组织学的错误解读，难以正确诊断AS或薄基底膜肾病。我们强调了电子显微镜和免疫荧光在提高诊断率方面的重要性，以及将描述性组织学术语解释为诊断标签的风险。分子基因检测能够对索引患者和高危家庭成员做出明确诊断。
