Internal Medicine 1, Hamamatsu University School of Medicine, Japan.
Postgraduate Clinical Education Center, Hamamatsu University School of Medicine, Japan.
Intern Med. 2024 Sep 1;63(17):2439-2444. doi: 10.2169/internalmedicine.2866-23. Epub 2024 Feb 1.
An 81-year-old man with hypertension and a history of smoking presented with renal enlargement and progressive renal dysfunction despite no family history of kidney disease. A renal biopsy revealed diffuse tubular, dilated, and atrophic distal tubules with cystic formation and thin irregularities in the tubular basement membrane. Although no known genetic abnormalities were detected, the patient was diagnosed with medullary cystic kidney disease (MCKD). In addition, idiopathic nodular glomerulosclerosis, which is characterized by significant mesangial expansion and accentuated glomerular nodularity and is associated with hypertension and cigarette smoking, was identified as a complication of MCKD. We herein report a rare case of sporadic MCKD with idiopathic nodular glomerulosclerosis.
一位 81 岁的男性,患有高血压和吸烟史,尽管没有家族性肾病病史,但出现了肾脏增大和进行性肾功能障碍。肾活检显示弥漫性管状扩张和萎缩的远端肾小管,伴有囊性形成和管状基底膜的不规则变薄。尽管未发现已知的遗传异常,但该患者被诊断为髓质囊性肾病(MCKD)。此外,还发现特发性结节性肾小球硬化症,其特征为显著的系膜扩张和肾小球结节性增强,并与高血压和吸烟有关,这是 MCKD 的一种并发症。我们在此报告一例罕见的散发性 MCKD 合并特发性结节性肾小球硬化症的病例。