Introduction: Abnormal control of the complement alternative pathway (CAP)(factor H, factor I
and membrane cofactor protein (MCP) deficiencies) is a well established risk factor for the …

Atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G) are associated
with dysregulation and overactivation of the complement alternative pathway. Typically …

CASE PRESENTATION Two female siblings (patient 1: 12 6/12; Patient 2: 7 3/12 years old)
of consanguineous parents, presented with hematuria and proteinuria at five years (Patient …

Genetic studies have shown that mutations of complement inhibitors such as membrane
cofactor protein, Factors H, I, or B and C3 predispose patients to atypical hemolytic uremic …

Mutations in the plasma complement regulator factor H (CFH) and the transmembrane
complement regulator membrane co-factor protein (MCP) have been shown to predispose to …

METHODS Patients The subjects in this study were patients attending departments of
paediatric and adult nephrology and departments of internal medicine in several university …

Hemolytic uremic syndrome (HUS) is characterized by the triad of thrombocytopenia,
microangiopathic hemolytic anemia, and acute renal failure. The non–Shiga toxin …

Atypical hemolytic uremic syndrome (aHUS) is a disease of complement dysregulation. In
approximately 50% of patients, mutations have been described in the genes encoding the …

Genetic analyses in atypical hemolytic uremic syndrome (aHUS) and C3-glomerulopathy
(C3G) patients have provided an excellent understanding of the genetic component of the …

The familial hematuric diseases are a genetically heterogeneous group of monogenic
conditions, caused by mutations in one of several genes. The major genes involved are the …