Kaur Navpreet, D Pradeep, Nada Ritambhra, Bhatia Anmol, Dawman Lesa, Tiewsoh Karalanglin
Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Indian J Nephrol. 2024 Jul-Aug;34(4):392-395. doi: 10.4103/ijn.ijn_43_23. Epub 2023 Aug 4.
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.
肾小球囊性肾病（GCKD）是一种罕见的囊性肾病。我们报告了一名四周大的女婴，其父母非近亲结婚；产前孕晚期超声显示严重羊水过少，需要进行羊膜腔灌注。产后超声检查显示双侧肾脏皮质有少量微小囊肿（2 - 3毫米）。肾脏活检显示鲍曼囊扩张和肾小球囊性扩张，提示为肾小球囊性肾病。全外显子组测序未发现致病或可能致病的变异。
