PKDTS is a progressive hereditary disease that leads to serious clinical symptoms and death. PKDTS cases are reported less frequently. Therefore, there are few studies on the correlation between genotype and phenotype. Similar studies on whether the missing fragments are concentrated in the thermogene are rare. Given the important value of diagnosing PKDTS, it is necessary to develop a diagnostic process. We firstly reported the clinical date of PKDTS patients in China ,also retrieved the case reports of PKDTS published in the past 22 years and summarized the clinical manifestations and genetic characteristics of these patients. Many PKDTS patients have the following symptoms: under 20 years of age, hemangiofibroma, multiple renal cysts, and mental retardation. We did not have find a relationship between clinical phenotype and genotype. The gene deletion of TSC2 and PKD1 is not a hotspot mutation. More reports with detailed clinical descriptions of PKDTS patients and Chinese patients show phenotypic heterogeneity. The gene deletion of TSC2 and PKD1 expanded the mutation database. Moreover, mTOR inhibitors are recommended for treatment. In addition, combining the advantages of exon sequencing and MLPA, we firstly developed a diagnostic process for the disease, which were helpful in detecting new PKDTS.