儿童散发性肾小球囊性肾病1例报告

Pub Date : 2024-07-01 Epub Date: 2023-08-04 DOI:10.4103/ijn.ijn_43_23

Navpreet Kaur, Pradeep D, Ritambhra Nada, Anmol Bhatia, Lesa Dawman, Karalanglin Tiewsoh

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摘要

肾小球囊性肾病（GCKD）是一种罕见的囊性肾病。我们报告了一名非血缘父母所生的四周大的女婴；他们的产前孕晚期超声显示严重羊水过少，需要羊水输液。产后超声检查显示双侧肾脏皮质有少量微小囊肿（2-3mm）。肾活检显示Bowman间隙扩张，肾小球囊性扩张，提示GCKD。全外显子组测序未发现致病性或可能的致病性变体。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Sporadic Form of Glomerulocystic Kidney Disease in a Child: A Case Report.

Glomerulocystic kidney disease (GCKD) is a rare form of cystic renal disease. We report a four-week-old baby girl born to non-consanguineous parents; their antenatal third-trimester ultrasound showed severe oligohydramnios that required amnioinfusion. Post-natal ultrasound examination showed few tiny cysts (2-3mm) involving the cortices in bilateral kidneys. Kidney biopsy showed dilatation of Bowman's space and cystically dilated glomeruli, suggestive of GCKD. Whole exome sequencing revealed no pathogenic or likely pathogenic variant.

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