nefrology pediatric

BACKGROUND AND OBJECTIVES: Dent's disease type 1 (DD1) is a rare X-linked hereditary pathology caused by CLCN5 mutations that is characterized mainly by proximal tubule dysfunction, hypercalciuria, nephrolithiasis/nephrocalcinosis, progressive chronic kidney disease, and low-weight proteinuria, the molecular hallmark of the disease. Currently, there is no specific curative treatment, only symptomatic and does not prevent the progression of the disease. In this study we have isolated and characterized urinary extracellular vesicles (uEVs) enriched in exosomes that will allow us to identify biomarkers associated with DD1 progression and a better understanding of the pathophysiological bases of the disease...

INTRODUCTION AND OBJECTIVES: There is currently no doubt that a kidney transplant with good function is the best treatment we can offer a child with severe kidney failure, improving their growth, development and life in general. But there are few works that follow these patients over the years to find out what their life is like as adults, their achievements and if there are any difficulties that may have arisen from their illness. That has been the objective of this work. MATERIAL AND METHODS: We have collected the evolution of 287 patients who received at least one kidney transplant in pediatric age, analyzing not only the survival of grafts and recipients but, fundamentally, their current quality of life...

Primary distal renal tubular acidosis (dRTA) is a rare tubulopathy characterised by the presence of hyperchloremic metabolic acidosis. It is caused by the existence of a defect in the function of the H+ -ATPase located on the luminal side of the α-intercalated cells or the Cl - HCO3- (AE1) anion exchanger located on the basolateral side. Patients do not acidify the urine after acid overload (NH4Cl) or after stimulating H+ secretion by obtaining a high intratubular concentration of an anion such as chlorine (pH is measured) or HCO3- (urinary pCO2 is measured)...

INTRODUCTION: Maintenance intravenous fluids are frequently used in hospitalised pediatric patients. The aim of the study was to describe the adverse effects of isotonic fluid therapy in hospitalised patients, and its prevalence based on the rate of infusion. MATERIALS AND METHODS: A prospective clinical observational study was designed. We included hospitalised patients between 3 months-old and 15-years-old were included with 0,9% isotonic solutions with 5% glucose within the first 24 h of administration...

INTRODUCTION: People with a reduced nighttime dip in blood pressure have an increased cardiovascular risk. Our objective was to describe the different patterns in blood pressure (BP) among pediatricians who work in long on-duty shifts in relation with sex, medical rank and sleeping time. METHODS: Descriptive, cross-sectional, two-center study. On duty pediatric Resident physicians and pediatric Consultants were recruited between January 2018 and December 2021. RESULTS: Fifty-one physicians were included in the study (78...

Takeuki and Nishimoto's syndrome has been described as more common though not exclusive in the Japanese people; it occurs in the pediatric or young adult age. The clinical syndrome is most variable (transitory ischemic attacks or circulatory insufficiencies with permanent neurological deficit, as well as subarachnoid hemorrhage). Conversely, the angiographic syndrome is quite typical: I) stenosis of both internal carotid arteries and the anterior part of Willis circle; II) presence of an angiomatous net at the level of the basal ganglia; III) presence of several anastomosis between internal and external carotid arteries...