Five children from 3 different families, presented several attacks of hemolytic-uremic syndrome with peculiar features:--in 4/5 children the disease was familial; 4 presented 2 attacks, the 5th 3 attacks, separated by several months or years of time-interval;--the "bouts" were constantly marked by the initial high level of reticulocytes, rapid recovery of hematuria, renal failure and thrombocytopenia;--overall, repeated biopsies of the kidney never showed any lesion of the basement membrane of the glomerular capillaries or of the arteriolar walls leading to the diagnosis of thrombotic microangiopathy;--all etiological enquiries to precise the cause of chronic hemolysis were negative.

Download full-text PDF

Source

Publication Analysis

Top Keywords

hemolytic-uremic syndrome
8
presented attacks
8
[familial hemolytic-uremic
4
syndrome normal
4
normal renal
4
renal biopsy]
4
biopsy] children
4
children families
4
families presented
4
attacks hemolytic-uremic
4

Similar Publications

Thrombocytopenia in Critically Ill Children: A Review for Practicing Clinicians.

Children (Basel)

January 2025

Division of Critical Care Medicine, Nicklaus Children's Hospital, 3100 SW 62nd Avenue, Miami, FL 33155, USA.

Thrombocytopenia frequently occurs in patients before, during, and after admission to Pediatric Intensive Care Units (PICUs). In critically ill children, it is often due to multifactorial causes and can be a sign of significant organ dysfunction. This review summarizes the potential causes/mechanisms of thrombocytopenia in acutely ill children, their identification, and treatments, with special attention paid to septic patients.

View Article and Find Full Text PDF

Introduction: Eculizumab is a C5 complement inhibitor approved by the FDA for the targeted treatment of four rare diseases, paroxysmal nocturnal hemoglobinuria (PNH), atypical hemolytic uremic syndrome (aHUS), generalized myasthenia gravis (gMG), and aquaporin-4 immunoglobulin G-positive optic neuromyelitis optica spectrum disorders (AQP4-IgG+NMOSD). The current study was conducted to assess real-world adverse events (AEs) associated with eculizumab through data mining of the FDA Adverse Event Reporting System (FAERS).

Methods: Disproportionality analyses, including Reporting Ratio Ratio (ROR), Proportional Reporting Ratio (PRR), Bayesian Confidence Propagation Neural Network (BCPNN), and Multi-Item Gamma Poisson Shrinker (MGPS) algorithms were used to quantify the signals of eculizumab-associated AEs.

View Article and Find Full Text PDF

The membrane attack complex drives thrombotic microangiopathy in complement mediated atypical hemolytic uremic syndrome.

Kidney Int

January 2025

Complement Therapeutics Research Group, Newcastle University Translational and Clinical Research Institute, The Medical School, Newcastle-upon-Tyne, UK; National Renal Complement Therapeutics Centre, The Royal Victoria Infirmary, Newcastle-upon-Tyne, UK.

Introduction of complement (C) inhibition into clinical practice has revolutionized the treatment of patients with complement-mediated atypical hemolytic syndrome (aHUS). Our C3 mouse model, engineered around a gain of function point mutation in C3, is associated with complement mediated aHUS in man, allowing us to study the clinical disease in a preclinical model. Backcrossing our model onto C7 deficient and C5aR1 deficient mice enabled further determination of the roles of the C5a-C5aR1 axis and C5b-9 (the membrane attack complex) on kidney disease.

View Article and Find Full Text PDF

Congenital thrombotic thrombocytopenic purpura (cTTP) is a thrombotic microangiopathy (TMA) characterized by severe hereditary ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin type 1 motifs 13) deficiency caused by mutations. This rare autosomal recessive genetic disorder is often misdiagnosed as immune thrombocytopenia (ITP) or hemolytic uremic syndrome (HUS). Here, we report a 21-year-old male cTTP patient with a compound heterozygous mutation.

View Article and Find Full Text PDF

[Thrombopenia and hemolytic anemia in acute and emergency medicine : Detailed view at thrombotic microangiopathies].

Inn Med (Heidelb)

January 2025

MVZ Nephrocare Mettmann GmbH, Gartenstr. 4-8, 40822, Mettmann, Deutschland.

Recognizing anemia and thrombpenia in acute and emergency medicine is easy. Acute (microangiopathic hemolytic) anemia and thrombopenia can be a sign of thrombotic microangiopathy (TMA). TMA syndromes are potentially life-threatening diseases.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!