RESUMO
In the past year, two centers reported autosomal recessive mutations in tetratricopeptide repeat domain 7A (TTC7A) gene in patients with multiple intestinal atresia and immunodeficiency. Here, we present clinical progress of an infant with multiple intestinal atresia and combined immunodeficiency who carries novel compound heterozygote mutations in TTC7A gene.
Assuntos
Atresia Intestinal/diagnóstico , Mucosa Intestinal/fisiologia , Proteínas/genética , Sepse/diagnóstico , Imunodeficiência Combinada Severa/diagnóstico , Adulto , Sequência de Bases , Análise Mutacional de DNA , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Recém-Nascido , Atresia Intestinal/complicações , Atresia Intestinal/genética , Masculino , Dados de Sequência Molecular , Mutação de Sentido Incorreto/genética , Linhagem , Polimorfismo Genético , Sepse/complicações , Sepse/genética , Imunodeficiência Combinada Severa/complicações , Imunodeficiência Combinada Severa/genéticaRESUMO
Hereditary angioedema (HAE) is a rare genetic condition that manifests as painful and potentially life-threatening episodic attacks of cutaneous and submucosal swelling. It results from functional deficiency of C1 inhibitor (C1 INH), which is a regulator of the complement, fibrinolytic, kinin (contact), and coagulation systems. In patients with HAE, the low plasma concentration of functional C1 INH leads to overactivation of the kinin cascade and local release of bradykinin. Bradykinin is responsible for the pain, vascular permeability changes, and edema associated with HAE. Until recently, therapeutic options for HAE have been very limited. Many new therapies have emerged, however, such as C1 INH replacement drugs and medications aimed at components of the contact system (eg, plasma kallikrein inhibitor and bradykinin B2 receptor antagonist). The authors review current and novel treatments for patients with HAE.
