Association of multiple retinal nodular hamartomas and "confetti" skin lesions with end-stage renal disease in patients with tuberous sclerosis.

PURPOSE: The main purpose of this study is to explore characteristics of patients with chronic kidney disease in tuberous sclerosis (TSC) and to underline differences in clinical characteristics between end-stage renal disease (ESRD) patients and patients in earlier stages of chronic kidney disease. METHODS: This multicentric, retrospective study included data for 48 patients from seven South-Eastern European countries (Albania, Bosnia and Herzegovina, Croatia, Greece, Montenegro, Serbia, Slovenia) in the period from February to August 2020. Researchers collected data from local and national nephrological and neurological registries and offered clinical and laboratory results from medical histories in follow-up periods. RESULTS: This study enrolled 48 patients with a median age of 32.3 years (range, 18-46 years), and predominant female gender (60.45%). The percentage of patients with chronic kidney disease (CKD) diagnosis of the total number of patients was 66.90%, with end-stage renal disease development in 39.6%. The most prevalent renal lesions leading to chronic kidney disease were angiomyolipomas (AMLs) in 76.6%, while multiple renal cysts were present in 42.6% of patients. Nephrectomy was performed in 43% of patients, while the mTOR inhibitors were used in 18 patients (37.5%). The majority of patients had cutaneous manifestations of tuberous sclerosis-83.30% had hypomelanotic cutaneous lesions, and 68.80% had angiofibromas. Multiple retinal nodular hamartomas and "confetti" skin lesions were more frequent in end-stage renal disease (ESRD) than in patients with earlier stages of chronic kidney disease (p-0.033 and 0.03, respectively). CONCLUSION: Our study has also shown that retinal hamartomas and "confetti" skin lesions are more frequent in end-stage renal diseases (ESRD) patients than in other chronic kidney disease (CKD) patients. Usage of mTOR inhibitors can also reduce the number of complications and associated with tuberous sclerosis, such as dermatological manifestations and retinal hamartoma, which are more common in the terminal stage of chronic kidney disease.

Atherosclerosis in hemodialysis patients: traditional and nontraditional risk factors.

AIM: To determine the significance of the relationship between some traditional risk factors (age, arterial hypertension, smoking, total cholesterol, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, triglycerides) and some nontraditional risk factors (lipoprotein[a], apolipoprotein A, apolipoprotein B, homocysteine, calcium, phosphorus, parathyroid hormone) and asymptomatic atherosclerosis in hemodialysis patients. METHODS: Ninety-one hemodialysis patients were included in the study. Using B-mode ultrasonography, we measured intima-media thickness and plaque occurrence in the carotid arteries in these patients. Biochemical parameters were determined in all participants according to standard laboratory procedure, systolic and diastolic blood pressure was measured, and information on smoking habits was obtained by questionnaire. RESULTS: A correlation between intima-media thickness and age of the hemodialysis patients was found. Intima-media thickness values also correlated with total cholesterol, low-density lipoprotein cholesterol, and apolipoprotein B. Compared to those without plaques, patients with plaques were statistically significantly older; had higher concentrations of total cholesterol, low-density lipoprotein cholesterol, triglycerides, and apolipoprotein B; and had lower concentrations of high-density lipoprotein cholesterol. The number of plaques correlated with age, total cholesterol, low-density lipoprotein cholesterol, triglycerides, and apolipoprotein B. Using multivariate models (linear or logistic regression) of traditional and nontraditional risk factors, a relationship was found between intima-media thickness, plaque occurrence, number of plaques, and age of the hemodialysis patients. With the same multivariate statistical analysis of nontraditional risk factors, a relationship was found only between intima-media thickness, plaque occurrence, number of plaques and apolipoprotein B. CONCLUSION: The results indicate that hemodialysis patients showed advanced atherosclerosis that is associated with traditional as well as nontraditional risk factors such as apolipoprotein B.