A5061706093- Pediatric Urology and Nephrology Studies
- Kidney Stones and Urolithiasis Treatments
- Urinary Tract Infections Management
- Urological Disorders and Treatments
- Parathyroid Disorders and Treatments
- Magnesium in Health and Disease
- Renal function and acid-base balance
- Dialysis and Renal Disease Management
- Biomedical Research and Pathophysiology
- Ion Transport and Channel Regulation
- Metabolism and Genetic Disorders
- Urinary Bladder and Prostate Research
- Gout, Hyperuricemia, Uric Acid
- Renal and related cancers
- Neonatal Health and Biochemistry
- Ethics and bioethics in healthcare
- Medicine and Dermatology Studies History
- Bone health and treatments
- Genetic and Kidney Cyst Diseases
- Electrolyte and hormonal disorders
- Case Reports on Hematomas
- Genetics and Neurodevelopmental Disorders
- Nutrition and Health in Aging
- Hemoglobinopathies and Related Disorders
- Porphyrin Metabolism and Disorders
Hospital Universitario Nuestra Señora de Candelaria
2015-2024
Red de Investigación Cardiovascular
2021
Sociedad Española de Nefrología
2021
Health-related quality of life (HRQoL) patients with X-linked hypophosphatemia (XLH) is lower than that both the general population and other chronic diseases, mainly due to diagnostic delay, treatment difficulties, poor psychosocial support, problems social integration. Early diagnosis optimal are paramount control disease in XLH, avoid complications, maintain or improve their HRQoL. We, therefore, analyzed HRQoL pediatric adult XLH treated conventional therapy Spain.We used several...
Abstract Background X-linked hypophosphatemia (XLH) is a hereditary rare disease caused by loss-of-function mutations in PHEX gene leading tohypophosphatemia and high renal loss of phosphate. Rickets growth retardation are the major manifestations XLH children, but there broad phenotypic variability. Few publications have reported large series patients. Current data on clinical spectrum disease, correlation with underlying mutations, long-term outcome patients conventional treatment needed,...
We have studied 160 children with a variety of renal diseases, 14 them chronic failure (CRF), to evaluate maximum urinary osmolality as predictor glomerular filtration rate (GFR) testing the hypothesis that normal GFR is necessary concentrating capacity.All patients had serum creatinine measured. was calculated according Schwartz formula. All underwent desmopressin (DDAVP) test capacity.Patients CRF were unable concentrate urine beyond 486 mosm/kg whereas all capacity (urine >835 mosm/kg)...
Renal hypouricemia (RHUC) is a rare inherited disorder characterized by impaired urate reabsorption in the proximal tubule resulting low serum levels and increased excretion. Some patients may present severe complications such as exercise-induced acute renal failure nephrolithiasis. RHUC caused inactivating mutations SLC22A12 (RHUC type 1) or SLC2A9 2) genes, which encode transporters URAT1 GLUT9, respectively. In this study, our goal was to identify associated with twenty-one new cases...
We believe that it is a new way to look at the relationship between renal lithiasis and kidney malformations.
The objective of this project was to adapt our setting following a systematic process based on the ADAPTE method first clinical practice guidelines X-linked hypophosphatemia (XLH) that were published in 2019.The adaptation application and implementation carried out three phases -start-up, adaptation, finalization- by group experts involved management patients with XLH.Following original guide, recommendations agreed elaborated for diagnosis, frequency scope visits specific follow-up children...
Sclerosing bone dysplasias are a series of clinically and genetically heterogeneous diseases characterized by functional failure the osteoclasts in resorption, leading to an excessive amount mineral density (BMD) which could have serious clinical consequences. We treated three children affected with seriously high levels BMD acetazolamide, intention inducing metabolic acidosis, thus increasing resorption reducing BMD. All our patients tolerated followed treatment well response was...
En la urolitiasis intervienen diversos factores genéticos y ambientales. Las 2 anomalías metabólicas más frecuentes son el incremento en eliminación urinaria de calcio reducción citrato. El cociente calculado entre las concentraciones ambas sustancias es un buen marcador riesgo formación cálculos cálcicos. Determinar si litógeno orina mismo paciente cambia a lo largo del día. Se estudiaron 56 niños (23 V, 33 M) para comprobar eran portadores prelitiasis. determinaron calcio, citrato...
Urinary tract infections (UTI) caused by Escherichia coli (E. coli) are common in patients with idiopathic hypercalciuria. As both UTI and hypercalciuria (prelithiasis) have a genetic basis, we wanted to know whether the family history of urolithiasis is more children UTIs E. coli. Secondarily, wondered if renal scars prelithiasis. Ambispective study collected data from 104 (40 male, 64 female) followed after having been diagnosed at least once. These were asked about existence relatives....