Clin Nephrol. 2024 Dec;102(6):351-369. doi: 10.5414/CN111425.
Phakomatoses, otherwise known as neurocutaneous syndromes, are a heterogeneous group of rare genetic disorders that predominantly affect structures arising from the embryonic ectoderm, namely the skin, eye globe, retina, and central nervous system. In addition to the common neurocutaneous syndromes (neurofibromatosis, tuberous sclerosis complex, Sturge Weber syndrome, Von Hippel-Lindau syndrome), a large number of relatively uncommon phakomatoses have been described in the literature. Cardiovascular, pulmonary, and musculoskeletal systems involvement in these disorders have been reported. Data on kidney involvement is not well described. This review discusses renal involvement in neurocutaneous syndromes. This includes the association with renal masses (cyst, angiomyolipoma, benign or malignant tumor), known vasculopathy, glomerular or tubular disorders, urinary tract anomalies, hypertension, and chronic kidney disease.
斑痣错构瘤病，也称为神经皮肤综合征，是一组异质性罕见遗传疾病，主要影响胚胎外胚层起源的结构，包括皮肤、眼球、视网膜和中枢神经系统。除了常见的神经皮肤综合征（神经纤维瘤病、结节性硬化症、Sturge-Weber 综合征、Von Hippel-Lindau 综合征），文献中还描述了大量相对不常见的斑痣错构瘤病。这些疾病可累及心血管、肺和肌肉骨骼系统。关于肾脏受累的数据描述得并不完善。本文讨论了神经皮肤综合征中的肾脏受累。这包括与肾脏肿块（囊肿、血管平滑肌脂肪瘤、良性或恶性肿瘤）、已知血管病变、肾小球或肾小管疾病、尿路异常、高血压和慢性肾脏病的关联。
