PMID: 2487375Jan 1, 1989Paper

Familial occurrence of C1-inhibitor deficiency and the effect of treatment

Archivum Immunologiae Et Therapiae Experimentalis
K MadalińskiM Chorazykiewicz

Abstract

Seventy one persons (67 children and 4 of their mothers) who came to the out-patient department of our hospital because of recurrent edemas of subcutaneous tissue and mucous membranes were the subjects of study. Serum haemolytic activity of complement and concentration of C1-esterase inhibitor, C1q, C4 and C3 were measured. Twenty six persons were related: altogether 12 families were studied, mostly sisters and brothers. In six patients (k 8.5% of the group studied) inherited type I defect of C1-inhibitor was detected and the diagnosis of angioneurotic edema confirmed. The results of complement determination in these patients (5 girls and 1 mother) were compared to the rest of the group and to healthy blood donors and showed clear differences in concentrations of C1-inhibitor, C1q, C4 and in haemolytic activity. Treatment consisted of fibrinolysis inhibitor, epsilon-aminocaproic acid and of antihistamine drugs. The value of this kind of therapy in the treatment of a very well responding child is discussed.

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.