Nephrology and Blood Purification, Nippon Life Hospital, Osaka, Japan.
Nephrology and Blood Purification, Nippon Life Hospital, Osaka, Japan
BMJ Case Rep. 2020 Oct 27;13(10):e236137. doi: 10.1136/bcr-2020-236137.
A 31-year-old woman with retinitis pigmentosa who had been diagnosed with renal failure due to nephrosclerosis related to hypertensive disorders of pregnancy was referred to our hospital to prepare for renal replacement therapy. Ultrasonography and MRI of the kidneys revealed multiple corticomedullary cysts. A renal biopsy showed that the tubules were tortuous and atrophic with segmented tubular basement membrane thickening. These findings indicated that she had Senior-Løken syndrome. A molecular genetic analysis was performed, and homozygous deletion of the gene encoding nephronophthisis-1 was found. Thus, the clinical diagnosis of Senior-Løken syndrome was genetically confirmed. Because her renal function was gradually worsening, she was scheduled to undergo living donor kidney transplantation. Senior-Løken syndrome, which is recognised as a very rare paediatric inherited disease characterised by nephronophthisis and eye problems, can cause adult-onset end-stage renal failure.
一位 31 岁的女性，患有视网膜色素变性，曾因妊娠高血压疾病相关的肾血管性疾病导致肾衰竭，被转介至我院准备进行肾脏替代治疗。肾脏的超声和 MRI 显示多发性皮质-髓质囊肿。肾活检显示肾小管迂曲和萎缩，伴有节段性肾小管基底膜增厚。这些发现表明她患有 Senior-Løken 综合征。进行了分子遗传学分析，发现编码肾单位-肾曲管病 1 的基因存在纯合缺失。因此，临床诊断为 Senior-Løken 综合征得到了基因证实。由于她的肾功能逐渐恶化，她被安排进行活体供肾移植。Senior-Løken 综合征是一种非常罕见的儿科遗传性疾病，以肾单位-肾曲管病和眼部问题为特征，可导致成人发病的终末期肾衰竭。
