ISSN:
1432-1076
Keywords:
Key words Complement
;
C1q deficiency
;
Point mutation
;
Systemic lupus erythematosus
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract A 7-year-old male with recurrent erythematous and desquamated skin lesions and respiratory infections was diagnosed as selective complete C1q deficiency following detailed studies of the complement system. His asymptomatic sister also had selective complete C1q deficiency. During a follow up period of 3 years, his skin lesions persisted, he suffered from recurrent bronchopneumonias and glomerulonephritis developed. Renal function deteriorated with the appearance of anti-DNA antibodies. Renal biopsy was consistent with systemic lupus erythematosus. The patient was treated with immunosuppressive drugs, but died of renal failure. It is postulated that in this patient defective clearance of antigen-antibody complexes by the reticulo- endothelial system resulted in progressive renal disease as observed in other complement deficiencies. A retrospective molecular study disclosed a point mutation in the ClqA chain gene in a heterozygous state in parents and two siblings; in a homozygous state in the asymptomatic sister. The reason why some individuals with this defect are asymptomatic is not known at present. Diagnosis of heterozygotes by molecular studies is extremely important to give genetic counselling to the family. Conclusion Patients with recurrent infections, ery-thematous desquamative skin lesions, malar rash and oral mucosal involvement should be screened for complement Clq deficiency.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004310050567
Permalink
