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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.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.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).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.

Hypertension in adolescents is, as in other patients, one of the important cardiovascular risk factors, associated with hypertension in adults and with appearance of cardiovascular complications later in life. In recent years it is in increase, in parallel with occurrence of overweight in this age group. There is mostly essential or obesity-related hypertension. It is often asymptomatic, therefore it holds true also for adolescents, that it has to be actively searched, especially in risk groups such as overweight adolescents, adolescents with positive family history or some of the other classical cardiovascular risk factors. If we have normal-weight adolescent with important hypertension or symptomatic adolescent without positive family history, the possibility of secondary hypertension has to be thinking of and extended, on possible cause focused and stepwise diagnostics performed. In this case, the treatment is etiological. Otherwise, the first-line treatment in adolescents comprises nonpharmacological treatment measures. Sometimes, because of poor nonpharmacological treatment compliance and presence of hypertensive-target organ damage, antihypertensive medications have to be introduced. However, preventive actions represent the most important task, in the form of primary and primordial prevention. In this article, diagnostic approach, prevention and treatment strategies in adolescents are shortly presented.

Purpose of the study To reassess the predictive role of clinical parameters and epileptiform paroxysmal EEG abnormalities for subsequent epilepsy in patients with febrile seizures. Patients and methods 179 patients with febrile seizures were included in a prospective study investigating the impact of some clinical parameters and EEG abnormalities that could be important for future epilepsy. EEGs were performed in afebrile patients after hospital discharge. The follow-up period from the first presentation ranged from 2.1 to 9.2 years (mean, 6.6 years). The correlation between the development of epileptic seizures and the presence of epileptiform EEG abnormalities in the two groups was evaluated with the Mann–Whitney and chi-square test. Statistical significance was set at p Results Febrile seizures occurred more than once in 58 (32.5%) patients, with one recurrence in 32 (17.9%) patients and multiple recurrences in 26 (14.5%) patients. The incidence of paroxysmal abnormalities was 16.8%. Of these, 15 patients (50%) showed generalized paroxysms only, while in 15 patients (50%), focal abnormalities were found. Epilepsy developed in 12 patients (6.7%). There were 27 patients with clinically focal features of the first febrile seizure, five (18.5%) of whom developed epilepsy. With focal EEG abnormalities included, the incidence of epilepsy increased to 50%. Conclusion Generalized EEG discharges in patients with febrile seizures are not predictive of later epilepsy, but focal discharges are.

The aim of our study was to investigate some early markers of hypertensive target organ damage in hypertensive children and adolescents, and to detect those showing most prominent clinical significance. We included 100 children with essential hypertension (EH) and 50 age-matched healthy control children, and evaluated left ventricular mass (LVM), intima-media thickness in the carotid arteries (IMT), pulse wave velocity (PWV), microalbuminuria, biochemical parameters and some adipokines. Statistically significant differences between the 2 groups were observed for HDL-cholesterol, LDL-cholesterol, triglycerides, insulin, uric acid, glucose, apolipoprotein A1, and total adiponectin. The mean values of IMT, PWV and LVM were greater in hypertensive children, but only the differences in IMT and LVM were statistically significant. In addition, hypertensive children showed significantly higher values of AoSP (aortic systolic pressure), AoPP (aortic pulse pressure) and AIx@75 (augmentation index corrected for heart rate of 75 b.p.m.). Metabolic syndrome was diagnosed in 31% of hypertensive children. A significant number of children with EH have early target organ changes as well as other risk factors, including metabolic syndrome, especially obese ones. However, IMT, LVM and some parameters of arterial stiffness have been found to be early markers in both obese and non-obese hypertensives. In addition, adipokines and coagulation factors seem to be important in obese hypertensives.Das Ziel unserer Studie war es, einige frühe Zeichen hypertensiver Endorganschäden bei Kindern und Jugendlichen mit arterieller Hypertonie zu ermitteln um diejenigen zu finden, die klinisch am bedeutsamsten sind. Wir haben 100 Kinder und Jugendliche mit essentieller Hypertonie (EH) und 50 gleichaltrige gesunde Kinder und Jugendliche als Kontrollen in die Studie einbezogen. Die Studie beurteilte die linksventrikuläre Hypertrophie (LVM), die Intima Media Dicke der inneren Halsschlagader (IMT), die Pulswellengeschwindigkeit (PWV), Mikroalbuminurie, einige biochemische Parameter und Adipokine. Zwischen den 2 Gruppen fanden wir statistisch signifikante Unterschiede für das HDL-Cholesterin, LDL-Cholesterin, die Triglyceride, das Insulin, die Harnsäure, den Blutzucker, das Aplipoprotein A1 und das Gesamt-Adiponectin. Die Mittelwerte (Durchschnittswerte) von IMT, PWV und LVM waren höher bei hypertensiven Kindern, aber nur die Unterschiede von IMT und LVM waren statistisch bedeutsam. Außerdem zeigten die hypertensiven Kinder signifikant höhere Werte vom AoSP (systolischer Druck in der Aorta), AoPP(Pulsdruck in der Aorta), und Alx@75 (Augmentations-Index adaptiert an die Herzfrequenz von 75/min). Das metabolische Syndrom haben wir bei 31% der hypertensiven Kinder diagnostiziert. Eine signifikante Anzahl von Kindern mit EH, insbesondere die Übergewichtigen, haben frühe Endorganschäden sowie auch andere Risikofaktoren einschließlich des Metabolischen Syndroms. Allerdings haben sich IMT, LVM und einige Parameter der Arteriensteifigkeit als frühe Zeichen in beiden Gruppen, sowohl bei den Übergewichtigen, als auch bei Kindern mit Normalgewicht, erwiesen. Des Weiteren scheinen bei hypertensiven Übergewichtigen Adipokine und Gerinnungsfaktoren von Bedeutung zu sein.

Microalbuminuria in adults has been found to be an early indicator of both renal and systemic vascular disease, as well as significant cardiovascular risk predictor and therapeutic marker. Its role in essential hypertension in adults has also been well established. As diseases like hypertension and obesity have their roots in childhood and are already present in children, influencing the morbidity in adulthood, the role of microalbuminuria has been extensively investigated in children as well. Most investigations have been performed in diabetic children, confirming its clinical significance. There is also enough evidence to suggest that microalbuminuria in obese children should be taken as seriously as in children with diabetes. In children with hypertension rare studies also indicate that its presence identifies hypertensive children with higher risk, although the exact role has to be confirmed in prospective and larger studies. The mechanisms of microalbuminuria onset could be the result of renal damage secondary to hypertension or underlying renal and systemic endothelial dysfunction. Evidence from small intervention studies in children with microalbuminuria also suggests that early intervention with antihypertensive drugs is likely to be beneficial, pointing out the role of microalbuminuria as a therapeutic marker in children too. In addition, we have to stress the importance of follow-up of children with microalbuminuria, confirmation of its persistence and identification of progression. However, longitudinal prospective studies in children, investigating its future cardiovascular risk, are still lacking.

We report a 13-month-old male infant with an apparently normal karyotype, severe growth and developmental delay, ichthyosis, hypogonadism, limb shortness, hypoplasia of the corpus callosum and a round, flat face and thin upper lip as a consequence of a subtelomeric del/dup event of the X chromosome. The recombinant X chromosome (rec(X)), derived from crossing-over within the inversion, was identified in a family, in which the mother is a carrier of pericentric inversion of one X chromosome and pericentric inversion of the heterochromatic region of chromosome 9. The inv(X) chromosome was also analysed in her sister and daughter. The rec(X) had a duplication of the segment Xq27.3→Xqter and deletion of the Xp22.31→Xpter and was interpreted as Xqter-Xq27.3::Xp22.31-Xqter. The rec (X) was characterised by FISH using a number of BAC probes. There are only three published reports of chromosome rearrangements resulting in a similar subtelomeric duplication of Xq in males. The proband’s phenotype corresponds to descriptions of contiguous gene syndromes due to deletion of the STS, SHOX, ARSE and KAL genes. Despite the loss of the ARSE gene there was no evidence of chondrodysplasia punctata. Additional conditions associated with duplication of the Xq28 segment, such as severe growth retardation and developmental delay, a peculiar head shape, atrophy of the cerebral hemispheres and hypoplasia of the cerebellum and corpus callosum, were observed. Conclusion:Fluorescent in situ hybridisation techniques using subtelomeric DNA probes are essential tools for detection of such complex submicroscopic chromosomal rearrangements as the dup/del event of the X chromosome described in our patient.