MOLECULAR STUDY ATYPICAL UREMIC HEMOLYTIC SYNDROME (CFB GENE) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4190

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	32 days
Information:
Atypical hemolytic uremic syndrome is a disease that primarily affects kidney function. This condition, which can occur at any age, makes abnormal blood clots (thrombi) in small blood vessels in the kidneys. The atypical HUS is characterized by three important features related to coagulation disorders: hemolytic anemia, thrombocytopenia and kidney failure. The atypical hemolytic uremic syndrome should be distinguished from a more common condition called hemolytic uremic syndrome typical. The two disorders have different causes and different signs and symptoms. Unlike the atypical form, typical form is caused by infection with certain strains of the bacterium Escherichia coli that produce toxic substances called shiga-like toxins. The typical form is characterized by severe diarrhea and most commonly affects children under 10 years. In the typical form is less likely than in the atypical form appearing recurrent attacks of renal lesions that lead to ESRD. Mutations in at least seven genes appear to increase the risk of developing the disorder. Mutations in a gene called CFH are most common, found in 30 percent of cases of atypical hemolytic uremic syndrome. Mutations in other genes have been identified in each with a small percentage of cases, for example, CD46 (12%), CFI (5-10%), C3 (5%), THBD (3-5%), and CFB (4%). Most cases of atypical HUS are sporadic. Less than 20 percent of all cases are familial. When the disorder is hereditary, may have a pattern of autosomal dominant or autosomal recessive.
Links:
Atypical Hemolytic-Uremic Syndrome - GeneReviews™ - NCBI Bookshelf
OMIM Entry - # 612924 - HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4; AHUS4
Orphanet- Atypical hemolytic uremic syndrome with C3 anomaly
OMIM Entry - + 138470 - COMPLEMENT FACTOR B; CFB

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