A5063908674- Complement system in diseases
- Kidney Stones and Urolithiasis Treatments
- Renal Diseases and Glomerulopathies
- Dialysis and Renal Disease Management
- Pediatric Urology and Nephrology Studies
- Renal function and acid-base balance
- Anesthesia and Sedative Agents
- Pediatric Pain Management Techniques
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Pleural and Pulmonary Diseases
- Neurological Complications and Syndromes
- Adenosine and Purinergic Signaling
- Congenital Heart Disease Studies
- Wnt/β-catenin signaling in development and cancer
- Congenital Diaphragmatic Hernia Studies
- Renal and related cancers
- Muscle and Compartmental Disorders
- Renal Transplantation Outcomes and Treatments
- Renin-Angiotensin System Studies
- Moyamoya disease diagnosis and treatment
- Skin and Cellular Biology Research
- Nosocomial Infections in ICU
- Viral-associated cancers and disorders
- Pneumothorax, Barotrauma, Emphysema
- COVID-19 and healthcare impacts
Hospital Universitario Son Espases
2013-2024
Health Research Institute of the Balearic Islands
2020-2024
Hospital Universitario Son Dureta
2011
Hospital Universitario 12 De Octubre
2008-2010
Hospital de Cruces
1985
There is little information about Coronavirus Disease 2019 (COVID-19) in children with underlying chronic renal pathologies.
C3 glomerulopathy is a complement-mediated disease arising from abnormalities in complement genes and/or antibodies against components. Previous studies showed that treatment with corticosteroids plus mycophenolate mofetil (MMF) was associated improved outcomes, although the genetic profile of these patients not systematically analyzed. This study aims to analyze main determinants progression and response this therapeutic regimen.We conducted retrospective, multicenter, observational cohort...
Dent's disease type 1 (DD1) is a rare X-linked nephropathy caused by CLCN5 mutations, characterized proximal tubule dysfunction, including low molecular weight proteinuria (LMWP), hypercalciuria, nephrolithiasis-nephrocalcinosis, progressive chronic kidney (CKD) and failure (KF). Current management symptomatic does not prevent progression. Here we describe the contemporary DD1 picture across Europe to highlight its unmet needs.A physician-based anonymous international e-survey supported...
Thrombotic microangiopathy (TMA) is an important complication associated with several diseases that are rare and life-threatening. TMA common to thrombotic thrombocytopenic purpura (TTP) hemolytic uremic syndrome (HUS). TTP defined by a severe deficiency of ADAMTS13, early treatment good prognosis. The diagnosis HUS can be difficult due the potential multiple etiologies, best option in most cases not well-established yet. implementation multidisciplinary team (MDT) could decrease time for...
Thrombotic microangiopathy (TMA) has different etiological causes, not all of them well understood. In atypical hemolytic uremic syndrome (aHUS), the TMA is caused by complement dysregulation associated with pathogenic mutations in components and its regulators. Here, we describe a pediatric patient aHUS whom relatively benign course disease confused initial diagnostic. A previously healthy 8-year-old boy developed jaundice, hematuria, anemia, thrombopenia mild acute kidney injury (AKI)...
Thrombotic microangiopathy (TMA), characterized by microangiopathic hemolytic anemia, thrombocytopenia, and multisystem organ dysfunction, is a life-threatening disease. Patients with TMA who do not exhibit severe ADAMTS-13 deficiency (defined as disintegrin-like metalloprotease thrombospondin type 1 motif no. 13 activity ≥10%: TMA-13n) continue to experience elevated mortality rates. This study explores the prognostic indicators for augmented risk or necessitating chronic renal replacement...
Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are genetically distinct disorders typically associated with pathogenic variants in TSC1 TSC2 for the former PKD1 PKD2 latter. lie adjacent to each other, large deletions comprising both genes lead TSC2/PKD1 contiguous gene deletion syndrome (CGS). In this study, we describe a young female patient exhibiting symptoms of CGS which genetic analysis disclosed two noncontiguous partial that putatively...
patients with AAV.
Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a genetic syndrome. Its main characteristics are bony dysplasia, prenatal and postnatal growth deficiencies, microcephaly, cerebrovascular disease. Several other features have been added recently. We report an individual with MOPDII affected by congenital renal dysplasia hyperosmolar coma diabetic onset. Renal has not previously described in individuals MOPDII. By publishing cases of unusual disorders, it will be possible...
Incidence and prevalence of urolithiasis is apparently increasing worldwide, also among children adolescents. Nevertheless, robust data have only been obtained in a few countries. In Spain, voluntary Registry for Pediatric Renal Lithiasis has active since 2015. Irregular participation limits its applicability, as well limitation to patients with stone available morphocompositional study, obtain about incidence prevalence. On the other hand, findings typology stones clinical analytical...