Isolated thrombotic microangiopathy of the small intestine in a patient with atypical hemolytic uremic syndrome – a case report

Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by systemic thrombotic microangiopathy (TMA) reflected by hemolysis, anemia, thrombocytopenia and systemic organ injury. The optimal ma...
Source: BMC Nephrology - Category: Urology & Nephrology Authors: Tags: Case report Source Type: research

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ConclusionThe atypical hemolytic uremic syndrome is a rare disease entity requiring a high index of suspicion to diagnose. It is a diagnosis of exclusion. Early diagnosis with prompt treatment will render a better outcome. The atypical hemolytic uremic syndrome needs to be considered in all patients with thrombotic microangiopathy.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research
Mauro Nicola Laforgia Shiga toxin-producing Escherichia Coli (STEC) infections routinely run as a common gastroenteritis, but in many cases they may evolve towards hemolytic uremic syndrome (HUS). HUS is a rare disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. Gut microorganisms have a fundamental impact on human physiology, because they modulate normal intestinal functions and play a pivotal role in influencing the local and systemic immune responses. Despite surveillance established in many countries and major progresses in the understanding of STEC-HUS mechanism...
Source: International Journal of Environmental Research and Public Health - Category: Environmental Health Authors: Tags: Review Source Type: research
In conclusion, we have confirmed in our cohort of patients, the strong association between FHR1 deficiency and aHUS with anti-FH autoantibodies. Through an innovative approach based on the comparison with “supercontrols” carrying the homozygous CFHR1 deletion, identified by screening a large number of healthy adult subjects, we have documented that patients with anti-FHs aHUS are enriched in complement gene LPVs. This observation indicates that the pathogenesis of anti-FHs aHUS is complex and multiple “hits” are required for its clinical manifestation. We also document that the CFH H3 and the CD46GG...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Complement-mediated thrombotic microangiopathy (TMA), also known as atypical hemolytic uremic syndrome (aHUS) is a rare, hereditary, progressive, life-threatening disorder caused by a disruption in regulation of the alternative pathway of the complement system. Eculizumab, a terminal complement inhibitor, has emerged as a first-line therapy, however data are limited to small case series (Brocklebank et al., 2017). Here, we present a diagnostically challenging case of complement-mediated TMA, who received eculizumab therapy with excellent hematologic response.A 68-year-old female with history of possible Sjogren's syndrome,...
Source: Blood - Category: Hematology Authors: Tags: 311. Disorders of Platelet Number or Function Source Type: research
ConclusionAn extremely rare, heterozygous mutation in the gene encoding CFI likely affecting splicing was associated for the first time with aHUS. Sequencing was critical for rapid diagnosis and subsequent timely treatment with eculizumab, which resulted in improved renal function.
Source: Journal of Clinical Apheresis - Category: Hematology Authors: Tags: CASE REPORT Source Type: research
We describe the case of an adolescent female who presented with peripheral edema due to nephrotic-range proteinuria with bioptic evidence of TMA. Study of the alternative complement pathway showed a heterozygous missense T HBD gene mutation (P501L variant) consistent with aHUS diagnosis. One year later she developed clinical signs of hemolytic anemia. Eculizumab, an anti-C5 monoclonal antibody, was started with rapid improvement. This case report highlights the phenotypic variability in aHUS due to THBD gene mutation. Early diagnosis by renal biopsy followed by genetic screening is required to optimize management in such a...
Source: Case Reports in Nephrology and Dialysis - Category: Urology & Nephrology Source Type: research
Abstract Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. In 2013, we developed diagnostic criteria to enable early diagnosis and timely initiation of appropriate treatment for aHUS. Recent clinical and molecular findings have resulted in several proposed classifications and definitions of thrombotic microangiopathy and aHUS. Based on recent advances in this field and the emerging international consensus to exclude secondary TMAs from the definition of aHUS, we have redefined aHUS and proposed diagnostic a...
Source: Pediatrics International - Category: Pediatrics Authors: Tags: Guidelines Source Type: research
Authors: Meola M, Samoni S, Petrucci I, Ronco C Abstract Acute cortical necrosis and hemolytic uremic syndrome (HUS) are 2 clinical scenarios of parenchymal acute kidney injury (AKI) related to renal microvascular injury. Acute cortical necrosis is a rare condition related to an ischemic necrosis of renal cortex. Necrotic lesions can be due to several injuries and may be focal, multifocal or diffuse. Renal necrotic lesions become visible with ultrasound only after renal recovery. HUS is a rare disease characterized by hemolytic anemia, thrombocytopenia and AKI. Color Doppler ultrasound is useful during diagnostic a...
Source: Contributions to Nephrology - Category: Urology & Nephrology Tags: Contrib Nephrol Source Type: research
Conclusion:The results suggest that the presence of complement‐mediated aHUS was underdiagnosed in this cohort calling for improvement of diagnostic availability.
Source: Nephrology - Category: Urology & Nephrology Authors: Tags: Original Article Source Type: research
CONCLUSIONS We found favorable results of an aHUS case successfully treated with kidney transplantation combined with short-term prophylactic eculizumab therapy. PMID: 26621268 [PubMed - in process]
Source: Annals of Transplantation - Category: Transplant Surgery Authors: Tags: Ann Transplant Source Type: research
More News: Anemia | Hemolytic Uremic Syndrome (HUS) | Rare Diseases | Thrombocytopenia | Urology & Nephrology