Kaur Amarpreet, Dhir Shashi Kant, Goyal Geetika, Mittal Naveen, Goyal R K
Assistant Professor, Department of Pediatrics, Guru Gobind Singh Medical College and Hospital , Faridkot, India .
Associate Professor, Department of Pediatrics, Guru Gobind Singh Medical College and Hospital , Faridkot, India .
J Clin Diagn Res. 2016 Nov;10(11):SD03-SD04. doi: 10.7860/JCDR/2016/21832.8816. Epub 2016 Nov 1.
Senior Loken Syndrome (SLS) is a rare genetic disorder having juvenile nephronophthisis and retinal degeneration progressing to blindness and end stage renal disease. The present case report is about two sisters who presented with decreased visual acuity and end stage renal disease. Both had decreased vision, pallor, deranged renal function test and chronic malnutrition. Investigations revealed anaemia, uraemia, raised creatinine, low Glomerular Filteration Rate (GFR). Ophthalmology examination revealed nystagmus, retinal examination depicted pale optic disc and pigmentary changes in the retina. Renal ultrasound showed grade III renal parenchymal changes and bilateral cortico-medullary cysts. These cases are presented to highlight the importance of timely recognition of renal derangement in patients with retinal disease to delay end stage renal disease.
高级洛肯综合征（SLS）是一种罕见的遗传性疾病，伴有青少年肾单位肾痨和视网膜变性，最终发展为失明和终末期肾病。本病例报告讲述的是两名姐妹，她们出现了视力下降和终末期肾病。两人均有视力下降、面色苍白、肾功能检查紊乱以及慢性营养不良。检查发现贫血、尿毒症、肌酐升高、肾小球滤过率（GFR）降低。眼科检查发现眼球震颤，视网膜检查显示视盘苍白和视网膜色素改变。肾脏超声显示III级肾实质改变和双侧皮质髓质囊肿。展示这些病例是为了强调及时识别视网膜疾病患者的肾脏紊乱对于延缓终末期肾病的重要性。
