Ponleitner Markus, Allmer Daniela Maria, Hecking Manfred, Gatterer Constantin, Graf Senta, Smogavec Mateja, Laccone Franco, Rommer Paulus Stefan, Sunder-Plassmann Gere
Department of Neurology, Comprehensive Center for Clinical Neurosciences and Mental Health, Medical University of Vienna, Vienna, Austria.
Division of Nephrology and Dialysis, Department of Medicine III, Medical University of Vienna, Vienna, Austria.
Front Genet. 2023 Jun 1;14:1211858. doi: 10.3389/fgene.2023.1211858. eCollection 2023.
We describe the case of a 44-year-old male patient with a longstanding history of microhematuria and mildly impaired kidney function (CKD G2A1). The family history disclosed three females who also had microhematuria. Genetic testing by whole exome sequencing revealed two novel variants in (NM_000092.5: c.1181G>T, NP_000083.3: p.Gly394Val, heterozygous, likely pathogenic; Alport syndrome, OMIM# 141200, 203780) and (NM_000169.3: c.460A>G, NP_000160.1: p.Ile154Val, hemizygous, variant of uncertain significance; Fabry disease, OMIM# 301500), respectively. Extensive phenotyping revealed no biochemical or clinical evidence for the presence of Fabry disease. Thus, the c.460A>G, p.Ile154Val, is to be classified as a benign variant, whereas the c.1181G>T, p.Gly394Val confirms the diagnosis of autosomal dominant Alport syndrome in this patient.
我们描述了一名44岁男性患者的病例，该患者有长期镜下血尿病史且肾功能轻度受损（慢性肾脏病G2A1期）。家族史显示有三名女性也有镜下血尿。通过全外显子组测序进行的基因检测分别在[基因名称1]（NM_000092.5: c.1181G>T，NP_000083.3: p.Gly394Val，杂合，可能致病；奥尔波特综合征，OMIM# 141200, 203780）和[基因名称2]（NM_000169.3: c.460A>G，NP_000160.1: p.Ile154Val，半合子，意义未明的变异；法布里病，OMIM# 301500）中发现了两个新变异。广泛的表型分析未发现法布里病存在的生化或临床证据。因此，[基因名称2]的c.460A>G，p.Ile154Val变异应归类为良性变异，而[基因名称1]的c.1181G>T，p.Gly394Val变异则证实该患者诊断为常染色体显性奥尔波特综合征。
