A novel NF1 mutation in a pediatric patient with renal artery aneurysm

Abstract Background Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome, due to heterozygous pathogenic variants in NF1 gene. The main clinical manifestations are multiple café au lait spots, axillary and inguinal freckling, cutaneous and plexiform neurofibromas, optic glioma, Lisch nodules and osseous lesions, such as sphenoid and tibial dysplasia. Vasculopathy is another feature of NF1; it consists of stenosis, aneurysms, and arteriovenous malformations, frequently involving renal arteries. Case presentation We report on a 9-year-old girl with a novel mutation in NF1 gene and renal artery aneurysm, treated by coil embolization and complicated with hypertension. Conclusion Vasculop…

Correlation between hypertrophy and risk of hypertension in congenital solitary functioning kidney

Purpose: Solitary functioning kidney (SFK) may be associated to hypertrophy, hypertension and chronic kidney disease. We evaluated blood pressure (BP) of children with congenital SFK comparing agenesis to multicystic dysplastic kidney (MCDK) and correlated BP profiles with renal dimensions of affected and contralateral kidney. Methods: We compared 40 patients with MCDK, grouped for either treatment options (A: conservative vs B: nephrectomy) or involution time (A1: before 4 years-of-age vs A2: persistence-of-MCDK), to 10 unilateral agenesis (C). Patients were evaluated with ultrasound, scintigraphy, office-ambulatory BP monitoring. Results: Compensatory hypertrophy was demonstrated in most …

Adiponectin, resistin and leptin in paediatric chronic renal failure: Correlation with auxological and endocrine profiles

Introduction: Chronic renal failure (CRF) compromises nutrition, growth, puberty, glycometabolic homeostasis, and adipokine secretion (i.e. adiponectin, resistin, and leptin). Adipokines play a role in the clinical outcome, but data in paediatric patients is scant. Aim: To evaluate the link between kidney function, adiponectin, resistin, leptin, hormonal status, nutritional state and late outcome of CRF children. Materials and methods: We studied leptin, adiponectin and resistin levels in 31 CRF patients (19 males, 12 females, aged 12.1 ± 4.47 years) managed conservatively, and 30 healthy age- and gender-matched controls. Clinical, auxological, biochemical, hormonal data, glucose and insuli…

Rapporti tra stato nutrizionale e citokine nell’insufficienza renale cronica

Endothelial activation and insulin resistance: Comparison between essential hypertensives and hypertensive patients with Metabolic Syndrome

Prevalence of biliary lithiasis in a Sicilian population of chronic renal failure patients.

BACKGROUND The aim of this study was to evaluate the prevalence of biliary lithiasis (BL) and associated risk factors in a population of undialysed patients with chronic renal failure (CRF), and to compare these with findings we had obtained previously in chronic haemodialysis (HD) patients and in subjects from the general population located in the same geographic region. METHODS A total of 118 CRF patients on conservative treatment were included in the study. In all subjects, we measured several clinical and humoral parameters potentially correlated with BL. Liver and biliary tract ultrasonography was performed with a 3.5 MHz linear probe after at least 12 h of fasting. RESULTS The prevale…

Stato nutrizionale e citokine nell’Insufficienza Renale Cronica