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Abstract：
Polycystic kidney disease with Tuberous sclerosis is a disease caused by the deletions of the TSC2-PKD1 gene. The disease is rarely reported and the characterized manifestation is severe polycystic kidney growth. The diagnosis can be made by molecular analysis. We report the first case of PKDTS discovered in infancy in China with typical neurological and renal manifestations. The patient has infantile spasm, polycystic kidney, skin damage, hypertension, and hematuria after infection. After effective treatment of Rapamycin, the seizures were completely controlled. There was not been any renal function damage in the patient. At the same time, we review the related literature and further elaborate on the variety of clinical manifestations, treatment, and prognosis.
摘要：
多囊肾病伴结节性硬化症是由TSC2-PKD1基因缺失引起的疾病。该疾病很少报道，其特征表现是严重的多囊肾生长。可以通过分子分析进行诊断。我们报告了在中国婴儿期发现的第一例PKDTS，具有典型的神经和肾脏表现。病人有婴儿痉挛,多囊肾,皮肤损伤,高血压,感染后血尿。雷帕霉素有效治疗后，癫痫发作得到了完全控制。患者没有任何肾功能损害。同时,我们回顾了相关文献，并进一步阐述了各种临床表现，治疗,和预后。
