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Familial C4B deficiency and immune complex glomerulonephritis
- Publication Year :
- 2010
- Publisher :
- Academic Press, 2010.
-
Abstract
- Homozygous complement C4B deficiency is described in a Southern European young female patient with Membranoproliferative Glomerulonephritis (MPGN) type III characterized by renal biopsies with strong complement C4 and IgG deposits. Low C4 levels were independent of clinical evolution or type of immunosuppression and were found in three other family members without renal disease or infections. HLA typing revealed that the patient has homozygous A*02, Cw*06, B*50 at the class I region, and DRB1*08 and DQB1*03 at the class II region. Genotypic and phenotypic studies demonstrated that the patient has homozygous monomodular RCCX in the HLA class III region, with single long C4A genes coding for C4A3 and complete C4B deficiency. Her father, mother, son and niece have heterozygous C4B deficiency. The patient’s deceased brother had a history of Henoch-Schönlein Purpura (HSP), an immune complex-mediated proliferative glomerulonephritis. These findings challenge the putative pathophysiological roles of C4A and C4B and underscore the need to perform functional assays, C4 allotyping and genotyping on patients with persistently low serum levels of a classical pathway complement component and glomerulopathy associated with immune deposits.
- Subjects :
- Adult
Heterozygote
Nephrotic Syndrome
Genotype
Glomerulonephritis, Membranoproliferative
Immunology
030232 urology & nephrology
chemical and pharmacologic phenomena
Human leukocyte antigen
Biology
Kidney
Article
03 medical and health sciences
Classical complement pathway
0302 clinical medicine
Complemento C4b
HLA Antigens
Glomerulopathy
Immunopathology
Membranoproliferative glomerulonephritis
medicine
Complement C4b
Humans
Immunology and Allergy
030304 developmental biology
0303 health sciences
Homozygote
Complement C4a
Tenascin
Glomerulonephritis
Complement deficiency
medicine.disease
Immune complex
Pedigree
3. Good health
Proteinuria
Haplotypes
Creatinine
Female
Steroid 21-Hydroxylase
Polymorphism, Restriction Fragment Length
Glomerulonefrite Membranoproliferativa
Membranoproliferative Glomerulonephritis
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....328b44615eb814728c974a2245fd2238