Is it necessary to perform urine cytology in screening patients with haematuria?
Our study suggests that performing routine urine cytology is not relevant in the investigation of patients with haematuria, its role is at best supportive.
Codon 905 missense mutations in TSC2 are relatively common. The TSC2 R905Q mutation is associated with unusually mild disease, consistent with functional studies. Combined with previous reports, it is apparent that certain TSC2 missense mutations are associated with a mild form of tuberous sclerosis, which in many patients does not meet standard diagnostic criteria. These findings have implications for the large number of patients with limited clinical features of TSC and for genetic counseling in these families.