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Complement-Mediated Hemolytic Uremic Syndrome Due to MCP/CD46 Mutation: A Case Report.
J Investig Med High Impact Case Rep
January 2025
Marshall University, Huntington, WV, USA.
Thrombotic microangiopathy (TMA) is a severe condition characterized by microangiopathic hemolytic anemia, thrombocytopenia, and end-organ damage, often involving the kidneys. Complement-mediated hemolytic uremic syndrome (cHUS), a rare form of TMA, arises from dysregulated alternative complement pathway activation, frequently due to genetic mutations. We report the case of a 23-year-old male presenting with TMA secondary to a heterozygous mutation in the membrane cofactor protein (MCP/CD46) gene.
View Article and Find Full Text PDFSystemic Inflammatory Diseases in Children with Sickle Cell Disease: A French Multicenter Observational Study on Diagnostic and Therapeutic Issues.
Pediatr Blood Cancer
January 2025
Pediatrics Department, Jean Verdier Hospital, APHP, Bondy, France.
Background: Systemic inflammatory diseases (SIDs) have been reported in patients with sickle cell disease (SCD), but clinical data in children are scarce.
Objectives: To identify clinical and laboratory features at diagnosis of SID in children with SCD and to describe their evolution.
Methods: Data from children with SCD and SIDs were retrospectively collected in a French multicenter study from 1991 to 2018.
Monocytes serve as Shiga toxin carriers during the development of hemolytic uremic syndrome.
Cell Mol Biol Lett
January 2025
State Key Laboratory of Pharmaceutical Biotechnology, Department of Gastroenterology, Drum Tower Hospital, Nanjing University Medical School, Nanjing University, Nanjing, 210093, Jiangsu, China.
Shiga toxin (Stx)-induced hemolytic uremic syndrome (HUS) poses a life-threatening complication for which a definitive treatment remains elusive. To exert its cytotoxic effect on renal cells, Stx must be delivered from the infected intestines to the kidney. However, the mechanism underlying Stx delivery remains unclear.
View Article and Find Full Text PDFBackground: Urine neutrophil gelatinase-associated lipocalin (uNGAL) is a biomarker for the early diagnosis of AKI.
Objectives: To evaluate uNGAL in dogs with non-associative immune mediated hemolytic anemia (IMHA) and to evaluate whether uNGAL correlates with disease severity markers, negative prognostic indicators and outcome.
Animals: Twenty-two dogs with non-associative IMHA and 14 healthy dogs.
Strengthening advanced therapy for sickle cell disease in Africa: experience from sickle cell disease centre in Dar es Salaam, Tanzania.
BMJ Glob Health
January 2025
Sickle Cell Programme, Department of Haematology and Blood Transfusion, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Despite progress in healthcare services for individuals living with sickle cell disease (SCD) in Africa, substantial gaps remain in advanced treatments for SCD. To help address this burden, Tanzania has established one of the largest single-centre SCD programmes in the world and developed an advanced therapy programme for SCD focused on patient engagement and advocacy, clinical activities involving exchange blood transfusion (ExBT) and haematopoietic stem cell transplant (HSCT), gene therapy (GT) preparedness, and enabling partnerships. This report describes the programme's genesis, structure and progress achieved.
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