Development of systemic lupus erythematosus in a patient with selective complete C1q deficiency
| Autor: | Franz Petry, Aysin Bakkaloglu, Michael Loos, Ersoy F, A. I. Berkel, K. Tinaztepe, Ozden Sanal |
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| Rok vydání: | 1997 |
| Předmět: |
Male
medicine.medical_specialty Pathology Blood Protein Disorders Renal function Disease Asymptomatic Fatal Outcome medicine Humans Lupus Erythematosus Systemic Point Mutation Renal Insufficiency Child Lupus erythematosus medicine.diagnostic_test business.industry Complement C1q Glomerulonephritis medicine.disease Dermatology Complement system Pediatrics Perinatology and Child Health Renal biopsy medicine.symptom business Malar rash |
| Zdroj: | European Journal of Pediatrics. 156:113-115 |
| ISSN: | 1432-1076 0340-6199 |
| DOI: | 10.1007/s004310050567 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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