Palm-Plant Pain, Sign of a Severe Systemic Disease? Case Report and Review of Literature

Fabry disease is an X-linked lysosomal storage disease, second in prevalence after Gaucher disease. The onset of symptoms occurs in childhood or adolescence with palmo-plantar burning pains, hypo hidrosis, angiokeratomas, and corneal deposits. In the absence of diagnosis and treatment, the disease will progress to the late phase, characterized by progressive cardiac, cerebral and renal damage, and possible death. We present the case of an 11-year-old male boy who was transferred to the Pediatric Nephrology Department for palmo-plantar burning pain and end stage renal disease. Following the evaluations for the etiology of end stage renal disease we excluded the vasculitis, the neurologic diseases, extrapulmonary tuberculosis. Because of suggestive aspect at CT scan and lack of etiologic diagnosis of renal insufficiency we performed lymph node and kidney biopsy, with a surprising result for storage disease. The specific investigation confirmed the diagnosis

Thrombosis in Chronic Kidney Disease in Children

Venous thromboembolism (VTE) in children is a rare condition. An increased incidence has been observed in the last few years due to several factors, such as increased survival in chronic conditions, especially chronic kidney disease (CKD), use of catheters, and increased sensitivity of diagnostic tools. VTE includes deep vein thrombosis (DVT) and pulmonary embolism (PE). VTE in children is associated with a two to six times higher mortality risk and a 5–10% prevalence of post-thrombotic syndrome. Overall, 5% of VTE episodes in children are associated with chronic kidney disease. The etiology of VTE in chronic kidney disease covers a wide range of pathologies. Various types of thrombotic complications may occur during long-term use of a chronic dialysis catheter. VTE occurs in 3% of children with nephrotic syndrome (NS). The risks for VTE and arterial thromboembolism (ATE) were particularly high in the first 6 months after the onset of NS. Other causes of VTE are graft rejection due to thrombosis of vascular anastomoses after kidney transplantation (3%) and autoimmune diseases (lupus nephritis, antiphospholipid syndrome). In this state-of-the-art overview, we have reviewed the physiologic and pathologic mechanisms underlying pediatric thrombosis and updated current diagnostic and treatment options, emphasizing personal experience as well

uNGAL Predictive Value for Serum Creatinine Decrease in Critically Ill Children

Acute kidney injury (AKI) occurs frequently in critically ill children, having an incidence of up to 26.9% and is associated with high morbidity and mortality in pediatric intensive care units (PICU). Currently, the decrease in the glomerular filtration rate is calculated using the serum creatinine levels. Nevertheless, there may be a 48 h delay between the renal injury and measurable increase in creatinine. Urinary neutrophil gelatinase-associated lipocalin (uNGAL) has been validated in relation to cardiopulmonary bypass in children, being able to detect AKI before the functional change proven by the rise in serum creatinine. Our aim was to study the utility of using uNGAL in the management of critical pediatric patients admitted to our hospital in a six month period, more specifically, its capacity to predict AKI development, alone and in the association with the renal angina index (RAI). Twenty-eight critically ill children aged from 1 day to 15 years have been included. We found that an increase in uNGAL in day 1 of admission in the PICU was significantly correlated with a decrease in creatinine clearance but not anymore in day 3. However, in our sample uNGAL did not show a significant predictability for AKI development nor the supplementary incorporation of RAI into the prediction model. Therefore, apart from cardiac surgery, the efficacy and utility or uNGAL in the management of critically ill children is still questionable. For the best prediction, we will need to incorporate not only the RAI or other PICU scores, but other biomarkers such as KIM-1, urinary cystatin, and IL 18 in larger samples