Publications by authors named "M Noris"
Background: C3 glomerulopathy is a rare clinical entity characterized by dysregulation of the alternative complement pathway in glomerular disease. Studies defining the natural history of C3G in the pediatric population are scarce.
Methods: Patients included in this retrospective study were diagnosed between 2011 and 2020 in 12 European pediatric nephrology units.
Cholesterol crystal embolism (CCE) is a complication of atherosclerosis and can cause microvascular obstruction in multiple organs. Because the consequences may be fatal, and there is no specific treatment, it is crucial to understand the mechanisms and identify treatment strategies. In this issue, Zhao et al.
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- The haemolytic uraemic syndromes (HUS) include various conditions, with some linked to complement activation (CaHUS).
- The 2023 International Society of Nephrology HUS Forum featured experts discussing the latest knowledge, uncertainties, and proposed solutions in diagnosing and managing HUS.
- Key areas needing research include naming conventions, complement testing, identifying biomarkers, genetic factors for aHUS, treatment strategies for C5 inhibitors, and improving access to care for patients.
Introduction: Lysinuric protein intolerance (LPI) is a multisystemic inborn error of metabolism with a variable clinical expressivity that usually begins in childhood with growth failure and gastroenterological/neurological problems related to the altered urea cycle and, later, with complications involving the renal, pulmonary, and immunohematological systems.
Case Report: We present the case of a 40-year-old woman suffering from chronic kidney disease in the context of a LPI, whose diagnosis was challenging because the signs of the disease were always blurred and the patient never manifested critical episodes typical of this multisystemic disease. In addition to renal disease, splenomegaly, thrombocytopenia, elevated lactate dehydrogenase (LDH), hyperferritinemia, and hypertriglyceridemia were also present.