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 ◽  
...  
2021 ◽  
Vol 12 ◽  
Author(s):  
Margarita López-Trascasa ◽  
Ángel Alonso-Melgar ◽  
Marta Melgosa-Hijosa ◽  
Laura Espinosa-Román ◽  
María Dolores Lledín-Barbancho ◽  
...  

Pathogenic gain-of-function variants in complement Factor B were identified as causative of atypical Hemolytic Uremic syndrome (aHUS) in 2007. These mutations generate a reduction on the plasma levels of complement C3. A four-month-old boy was diagnosed with hypocomplementemic aHUS in May 2000, and he suffered seven recurrences during the following three years. He developed a severe hypertension which required 6 anti-hypertensive drugs and presented acrocyanosis and several confusional episodes. Plasma infusion or exchange, and immunosuppressive treatments did not improve the clinical evolution, and the patient developed end-stage renal disease at the age of 3 years. Hypertension and vascular symptoms persisted while he was on peritoneal dialysis or hemodialysis, as well as after bilateral nephrectomy. C3 levels remained low, while C4 levels were normal. In 2005, a heterozygous gain-of-function mutation in Factor B (K323E) was found. A combined liver and kidney transplantation (CLKT) was performed in March 2009, since there was not any therapy for complement inhibition in these patients. Kidney and liver functions normalized in the first two weeks, and the C3/C4 ratio immediately after transplantation, indicating that the C3 activation has been corrected. After remaining stable for 4 years, the patient suffered a B-cell non-Hodgkin lymphoma that was cured by chemotherapy and reduction of immunosuppressive drugs. Signs of liver rejection with cholangitis were observed a few months later, and a second liver graft was done 11 years after the CLKT. One year later, the patient maintains normal kidney and liver functions, also C3 and C4 levels are within the normal range. The 12-year follow-up of the patient reveals that, in spite of severe complications, CLKT was an acceptable therapeutic option for this aHUS patient.


2014 ◽  
Vol 25 (9) ◽  
pp. 2053-2065 ◽  
Author(s):  
Maria Chiara Marinozzi ◽  
Laura Vergoz ◽  
Tania Rybkine ◽  
Stephanie Ngo ◽  
Serena Bettoni ◽  
...  

2010 ◽  
Vol 25 (5) ◽  
pp. 947-951 ◽  
Author(s):  
Hanan Tawadrous ◽  
Tara Maga ◽  
Josefina Sharma ◽  
Juan Kupferman ◽  
Richard J. H. Smith ◽  
...  

2007 ◽  
Vol 44 (1-3) ◽  
pp. 178-179 ◽  
Author(s):  
Elena Goicoechea de Jorge ◽  
Claire L. Harris ◽  
Jorge Esparza-Gordillo ◽  
Luis Carreras ◽  
Elena Aller Arranz ◽  
...  

2014 ◽  
Vol 34 (6) ◽  
pp. 691-695 ◽  
Author(s):  
Michinori Funato ◽  
Osamu Uemura ◽  
Katsumi Ushijima ◽  
Hidenori Ohnishi ◽  
Kenji Orii ◽  
...  

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