高钙尿症和肾结石：扩大唐纳-巴罗综合征的肾脏表型。
Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome.
机构信息
Clinical Nephrology Division, Department of Medicine-DIMED, University of Padua, Padua, Italy.
Pediatric Division, Department of Life and Reproduction Sciences, University of Verona, Verona, Italy.
出版信息
Clin Genet. 2018 Jul;94(1):187-188. doi: 10.1111/cge.13242. Epub 2018 Mar 13.
Abstract
Whole exome sequencing detected novel likely pathogenic variants in LRP2 gene in 2 patients presenting with hearing and vision loss, and the Dent disease (DD) classical renal phenotype, that is, low molecular weight proteinuria (LMWP), hypercalciuria and nephrocalcinosis/nephrolithiasis. We propose that a subset of patients presenting as DD may represent unrecognized cases or mild forms of Donnai-Barrow/facio-oculo-acustico-renal (DB/FOAR) syndrome or be on the phenotypic continuum between the 2 conditions.
摘要
全外显子测序在 2 名表现为听力和视力丧失以及 Dent 病（DD）经典肾表型（即低分子量蛋白尿（LMWP）、高钙尿症和肾钙质沉着症/肾结石）的患者中发现了 LRP2 基因的新型可能致病性变异。我们提出，一部分表现为 DD 的患者可能代表未被识别的病例或 Donnai-Barrow/facio-oculo-acustico-renal（DB/FOAR）综合征的轻度形式，或者是这两种疾病之间的表型连续体。
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