scholarly journals A Large Family with a Gain-of-Function Mutation of Complement C3 Predisposing to Atypical Hemolytic Uremic Syndrome, Microhematuria, Hypertension and Chronic Renal Failure

2009 ◽  
Vol 4 (8) ◽  
pp. 1356-1362 ◽  
Author(s):  
Karl Lhotta ◽  
Andreas R. Janecke ◽  
Johanna Scheiring ◽  
Barbara Petzlberger ◽  
Thomas Giner ◽  
...  
Keyword(s):  
Renal Failure ◽  
Chronic Renal Failure ◽  
Hemolytic Uremic Syndrome ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Large Family ◽  
Complement C3 ◽  
Gain Of Function ◽  
Uremic Syndrome

scholarly journals Familial Atypical Hemolytic Uremic Syndrome with Positive pS1191L (c.3572C> T) Mutation in CFH A Single-Center Experience

2019 ◽  
Author(s):  
Fadime ERSOY DURSUN ◽  
Gözde YESIL ◽  
Hasan DURSUN ◽  
Gülşah SASAK
Keyword(s):  
Renal Failure ◽  
Chronic Renal Failure ◽  
Family History ◽  
Hemolytic Uremic Syndrome ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Gene Mutations ◽  
Factor H ◽  
The Other ◽  
History Of ◽  
Uremic Syndrome

Abstract Background: Atypical hemolytic uremic syndrome is a condition characterized by thrombocytopenia, microangiopathic hemolytic anemia, and acute kidney injury, which can exhibit a poor prognosis. Gene mutations play a key role in this disease, which may be sporadic or familial. Methods: We studied, 13 people from the same family were investigated retrospectively for gene mutations of familial atypical hemolytic uremic syndrome after a patient presented to our emergency clinic with atypical hemolytic uremic syndrome and reported a family history of chronic renal failure. Results: The pS1191L mutation in the complement factor H gene was heterozygous in 6 people from the family of the patient with atypical hemolytic uremic syndrome. One of these people was our patient with acute renal failure and the other two are followed up by the Nephrology Clinic due to chronic renal failure. The other 3 persons showed no evidence of renal failure. The index case had a history of 6 sibling deaths; two of them died of chronic renal failure. Plasmapheresis and fresh frozen plasma treatment was given to our patient. When patient showed no response to this treatment, eculizumab therapy was started. Conclusions: The study demonstrated that a thorough family history should be taken in patients with atypical hemolytic uremic syndrome. These patients may have familial type of the disease and they should be screened genetically. Eculizumab should be the first choice in the treatment with plasmapheresis. It should be kept in mind that the use of eculizumab as prophylaxis in post-transplant therapy is extremely important for prevention of rejection.

scholarly journals ATYPICAL HEMOLYTIC-UREMIC SYNDROME DURING PREGNANCY. PRESENT AND LATEST RESULTS OF TREATMENT

2019 ◽  
Vol 6 (1) ◽  
pp. 47-50
Author(s):  
N. A Zharkin ◽  
M. E Statsenko ◽  
M. M Stazharova ◽  
Natalia A. Burova ◽  
S. A Prokhvatilov
Keyword(s):  
Renal Failure ◽  
Chronic Renal Failure ◽  
Hemolytic Uremic Syndrome ◽  
Clinical Case ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Results Of Treatment ◽  
Pathogenetic Therapy ◽  
Uremic Syndrome ◽  
Long Term Prognosis

Atypical hemolytic-uremic syndrome being referred to autoimmune diseases appears to be one of the most severe forms of thrombosis and microangiopathy. Difficulties in diagnosis cause a delay in pathogenetic therapy, which causes a high maternal mortality rate. Pathogenetic therapy with eculizumab, suppressing the terminal activity of complement, may contribute to the recovery of blood coagulation properties, but the long-term prognosis for chronic renal failure remains unfavorable. The article deals with a clinical case confirming this conclusion.

scholarly journals Postoperative Atypical Hemolytic Uremic Syndrome Associated with Complement C3 Mutation

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Eiji Matsukuma ◽  
Atsushi Imamura ◽  
Yusuke Iwata ◽  
Takamasa Takeuchi ◽  
Yoko Yoshida ◽  
...  
Keyword(s):  
Renal Failure ◽  
Hemolytic Uremic Syndrome ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Factor H ◽  
Complement C3 ◽  
Causative Mutation ◽  
Polymorphism Analysis ◽  
Complement Factor ◽  
Metabolic Conditions ◽  
Uremic Syndrome

Atypical hemolytic uremic syndrome (aHUS) can be distinguished from typical or Shiga-like toxin-induced HUS. The clinical outcome is unfavorable; up to 50% of affected patients progress to end-stage renal failure and 25% die during the acute phase. Multiple conditions have been associated with aHUS, including infections, drugs, autoimmune conditions, transplantation, pregnancy, and metabolic conditions. aHUS in the nontransplant postsurgical period, however, is rare. An 8-month-old boy underwent surgical repair of tetralogy of Fallot. Neurological disturbances, acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia developed 25 days later, and aHUS was diagnosed. Further evaluation revealed that his complement factor H (CFH) level was normal and that anti-FH antibodies were not detected in his plasma. Sequencing of his CFH, complement factor I, membrane cofactor protein, complement factor B, and thrombomodulin genes was normal. His ADAMTS-13 (a disintegrin-like and metalloprotease with thrombospondin-1 repeats 13) activity was also normal. However, he had a potentially causative mutation (R425C) in complement component C3. Restriction fragment length polymorphism analysis revealed that his father and aunt also had this mutation; however, they had no symptoms of aHUS. We herein report a case of aHUS that developed after cardiovascular surgery and was caused by a complement C3 mutation.

scholarly journals Neonatal Atypical Hemolytic Uremic Syndrome in the Eculizumab Era

2021 ◽  
Vol 11 (02) ◽  
pp. e95-e98
Author(s):  
Sara Madureira Gomes ◽  
Rita Pissarra Teixeira ◽  
Gustavo Rocha ◽  
Paulo Soares ◽  
Hercilia Guimaraes ◽  
...  
Keyword(s):  
Renal Failure ◽  
Renal Function ◽  
Hemolytic Uremic Syndrome ◽  
Perinatal Asphyxia ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Congenital Infection ◽  
High Morbidity ◽  
Severe Renal Failure ◽  
Emergency Cesarean ◽  
Uremic Syndrome

AbstractThe atypical hemolytic uremic syndrome (aHUS) in the newborn is a rare disease, with high morbidity. Eculizumab, considered a first-line drug in older children, is not approved in neonates and in children weighing less than 5 kg. We present a 5-day-old female newborn, born at 36 weeks' twin gestation, by emergency cesarean section due to cord prolapse, with birth weight of 2,035 g and Apgar score of 7/7/7, who develops microangiopathic hemolytic anemia, thrombocytopenia, and progressive acute renal failure. In day 5, after diagnosis of aHUS, a daily infusion of fresh frozen plasma begins, with improvement of thrombocytopenia and very slight improvement in renal function. The etiologic study (congenital infection, Shiga toxin, ADAMTS13 activity, directed metabolic study) was normal. C3c was slightly decreased. On day 16 for maintenance of anemia and severe renal failure, she started 300 mg/dose eculizumab. Anemia resolves in 10 weeks and creatinine has normal values after 13 weeks of treatment. The genetic study was normal. In this case, eculizumab is effective in controlling microangiopathy and in the recovery of renal function. Diagnosis of neonatal aHUS can be challenging because of phenotypic heterogeneity and potential overlap with other manifestations that may confound it, such as perinatal asphyxia or sepsis/disseminated intravascular coagulation.

scholarly journals Hyperfunctional complement C3 promotes C5-dependent atypical hemolytic uremic syndrome in mice

2019 ◽  
Vol 129 (3) ◽  
pp. 1061-1075 ◽  
Author(s):  
Kate Smith-Jackson ◽  
Yi Yang ◽  
Harriet Denton ◽  
Isabel Y. Pappworth ◽  
Katie Cooke ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Complement C3 ◽  
Uremic Syndrome

scholarly journals CONDITION AFTER HEMOLYTIC-UREMIC SYNDROME IN A CHILD WITH 3RD STAGE CHRONIC KIDNEY DISEASE (case report)

2017 ◽  
Vol 4 (3) ◽  
pp. 136-138
Author(s):  
M.O. Gonchar ◽  
T.B. Ishenko ◽  
N.V. Orlova ◽  
G.R. Muratov ◽  
T.F. Kolibaeva ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Renal Failure ◽  
Case Report ◽  
Chronic Renal Failure ◽  
Kidney Disease ◽  
Hemolytic Uremic Syndrome ◽  
Clinical Case ◽  
Disease Case ◽  
Uremic Syndrome ◽  
The Given

Gonchar M.O., Ishchenko T.B., Orlova N.V., Muratov G., Kolibaeva T., Khmara N., Podvalnaya N.Currently, hemolytic-uremic syndrome is one of the frequent causes of acute kidney failure in children, so the timeliness of diagnosis and treatment determines the outcome of the disease. In the given clinical case, a set of certain factors that lead to an unfavorable outcome of the disease and the progression of chronic renal failure are presented. Clinical case of a 14-year-old child K., who was admitted to the nephrology department of the Regional Children's Clinical Hospital with the diagnosis: 3rd stage CKD, subcompensated stage of chronic renal failure and condition after hemolytic-uremic syndrome.KeyWords: hemolytic-uremic syndrome in children, chronic kidney disease. СТАН ПЫСЛЯ ПЕРЕНЕСЕНОГО ГЕМОЛІТИКО-УРЕМІЧНОГО СИНДРОМУ У ДИТИНИ З III СТАДІЄЮ ХРОНІЧНОГО ЗАХВОРЮВАННЯ НИРОК (КЛІНІЧНЕ СПОСТЕРЕЖЕННЯ)Гончарь М.О., Іщенко Т.Б., Орлова Н.В., Муратов Г.Р., Колібаєва Т.Ф., Хмара Н.В., Підвальна Н.А. В даний час гемолітико-уремічний синдром є однією з найчастіших причин гострої ниркової недостатності у дітей, тому своєчасність постановки діагнозу і лікування визначає результат захворювання. На наведеному клінічному випадку, представлено сукупність певних факторів, які привели до несприятливого результату захворювання і прогресування хронічної ниркової недостатності. Клінічний випадок дитини К. 14 років, який знаходився в нефрологічному відділенні Обласної дитячої клінічної лікарні з діагноз: ХХН III ст. Хронічна ниркова недостатність субкомпенсированная стадія. Стан після перенесеного гемолітико-уремічного синдрому.Ключові слова: гемолітико-уремічний синдром, діти, клінічний випадок, хронічне захворювання нирок. СОСТОЯНИЕ ПОСЛЕ ПЕРЕНЕСЕННОГО ГЕМОЛИТИКО-УРЕМИЧЕСКОГО СИНДРОМА У РЕБЕНКА С III СТАДИЕЙ ХРОНИЧЕСКОГО ЗАБОЛЕВАНИЯ ПОЧЕК (КЛИНИЧЕСКОЕ НАБЛЮДЕНИЕ)Гончарь М.А., Ищенко Т.Б., Орлова Н.В., Муратов Г.Р., Колибаева Т.Ф., Хмара Н.В., Подвальная Н.А. В настоящее время гемолитико-уремический синдром является одной из частых причин острой почечной недостаточности у детей, поэтому своевременность постановки диагноза и лечения определяет исход заболевания. На приведенном клиническом случае, представлено совокупность определенных факторов, которые привели к неблагоприятному исходу заболевания и прогрессированию хронической почечной недостаточности. Клинический случай ребенка К. 14 лет, который находился в нефрологическом отделении Областной детской клинической больнице с диагноз: ХБП III ст. Хроническая почечная недостаточность субкомпенсированная стадия. Состояние после перенесенного гемолитико-уремического синдрома.Ключевые слова: гемолитико-уремический синдром, дети, клинический случай, хроническое заболевание почек.

scholarly journals Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome

2006 ◽  
Vol 104 (1) ◽  
pp. 240-245 ◽  
Author(s):  
E. G. de Jorge ◽  
C. L. Harris ◽  
J. Esparza-Gordillo ◽  
L. Carreras ◽  
E. A. Arranz ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Complement Factor ◽  
Gain Of Function ◽  
Factor B ◽  
Complement Factor B ◽  
Uremic Syndrome
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