Ameur A, Touiti D, Jira H, el Alami M, Ouahbi Y, Abbar M
Service d'urologie, hôpital militaire d'instruction Mohamed-V, BP1018, Rabat, Maroc.
Ann Urol (Paris). 2003 Aug;37(4):150-4. doi: 10.1016/s0003-4401(03)00047-0.
Urinary tract involvement in neurofibromatosis type 1 is rare and uncommon entity. The syndrome is transmitted as an autosomal dominant trait and is characterized by cutaneous pigmentation and tumors as neural crest origin. Two cases of kidney involvement by Von rechlinghausen's disease with in one case a consequent hydronephrosis with arterial hypertension and in the second a nephrocalcinos without hyperparathyroidism are present. The literature of urogenital and nephrologic neurofibromatosis is reviewed. The authors suggest that the patient with neurofibromatosis be screened annually with medical history, physical examination, urinalysis and serum chemistry for tumors that affect the urinary particularly in children.
1型神经纤维瘤病累及泌尿系统是一种罕见的情况。该综合征以常染色体显性特征遗传，其特点是有源于神经嵴的皮肤色素沉着和肿瘤。本文报告了2例冯·雷克林豪森病累及肾脏的病例，其中1例继发肾积水并伴有动脉高血压，另1例为肾钙质沉着症但无甲状旁腺功能亢进。本文对泌尿生殖系统及肾脏神经纤维瘤病的文献进行了综述。作者建议，对于神经纤维瘤病患者，尤其是儿童患者，应每年通过病史、体格检查、尿液分析和血清化学检查来筛查是否存在影响泌尿系统的肿瘤。
