Publications by authors named "Amantia Imeraj"

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.

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Article Synopsis
  • * Effective prevention and treatment strategies, both pharmaceutical and non-pharmaceutical, are vital for addressing cardio-renal damage and its complications.
  • * The document emphasizes the importance of using specific medications to slow down kidney disease progression and outlines preventive measures during cardiac procedures, alongside careful management of heart medications in CKD patients.
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Article Synopsis
  • * CV disease is a major cause of complications and death in CKD patients, emphasizing the need for careful risk assessment and management.
  • * The document discusses how CKD affects CV health and outlines strategies for managing key CV risk factors in affected patients.
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Hemolytic uremic syndrome (HUS) is a rare life-threatening disease of unrestrained complement system dysregulation, microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure in genetically predisposed individuals. In this report, we describe two cases of SARS-CoV-2-associated HUS treated with eculizumab, a C5-blocking monoclonal antibody reported to be remarkably effective in the treatment of HUS. Detailed biochemical and genetic complement system analysis is reported, and the prompt clinical response after C5 pharmacological blockade is documented.

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