[Clinical manifestations and therapeutic perspectives in tuberous sclerosis, a rare multi-organ genetic disease with renal involvement].

Tuberous sclerosis is a rare genetic disease with multiple organ involvement. Renal involvement is manifested by the presence of angiomyolipomas and cysts. Angiomyolipomas due to the progressive increase in size over time can complicate by bleeding that can lead to severe retroperitoneal hemorrhages. Hence, it is important to perform an active surveillance of the masses and to institute therapeutic attempts in order to manage or prevent any complication. We present three clinical cases of three women with various clinical presentations and treated in different ways. Recently, the employment of mTOR inhibitors such as Everolimus has been shown therapeutic efficacy in this disease, especially in terms of a dimensional reduction of renal angiomyolipomas.

Renal vascular resistance and renin-angiotensin system in the pathogenesis of early hypertension in autosomal dominant polycystic kidney disease.

Activation of the renin-angiotensin system (RAS) has been proposed to increase renal vascular resistance (RVR) and to play a role in the development of hypertension in autosomal dominant polycystic kidney disease (ADPKD). The aim of this study was to investigate the relationship among RVR, RAS and blood pressure (BP) profile in patients without renal impairment. Thirty-four ADPKD patients underwent ambulatory blood pressure monitoring (ABPM) over a 24-h period and were divided into two groups: 17 hypertensive (group A, day-systolic BP > or = 135 mmHg and/or day-diastolic BP > or = 85 mmHg) and 17 normotensive (group B, day-BP < 135/85 mmHg) patients. The two groups were comparable with respect to age, sex, and renal function. None of the patients assumed therapy. In all subjects the plasma renin activity (PRA) was measured, and the RVR was assessed by measuring resistivity indices (RI). RI was significantly higher in the hypertensive than in normotensive patients (0.67 +/- 0.05 vs. 0.62 +/- 0.03), while PRA was normal in all subjects, and showed no statistical difference between the two groups. Taking all the patients together (group A + group B), a significant positive correlation between RI and 24-h mean arterial pressure (MAP) was discovered, but no correlation was found between RI and PRA or between MAP and PRA. We conclude that in ADPKD patients without renal impairment the MAP values are strictly correlated with the RVR, but not with PRA. Thus factors other than RAS probably contribute to the increase of the RVR and to the early development of hypertension.