RESUMEN
OBJECTIVE: Immunoglobulin-A vasculitis (IgAV) is an inflammatory disease that affects small blood vessels. This study was performed to identify an association between protein tyrosine phosphatase non-receptor type 22 (PTPN22) + 788G > A (rs33996649), transforming growth factor-beta (TGF-ß) -509C > T (rs18004069), interleukin 1-beta (IL-1ß) -511C > T (rs16944), interleukin 5 (IL-5) -746C/T (rs2069812), and angiotensin-converting enzyme (ACE) I/D (rs4646994) gene polymorphisms, susceptibility to IgAV, as well as the mRNA levels of IL-1ß, IL-1ß, and TGF-ß. METHOD: A total of 53 patients with IgAV and 50 healthy controls were enrolled. PTPN22, TGF-ß, IL-1ß, ACE gene polymorphisms, ACE gene I/D polymorphisms, and mRNA expression levels were analyzed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, allele-specific PCR, and real-time PCR with TaqMan kits, respectively. RESULTS: PTPN22, TGF-ß, IL-1ß, IL-5, and ACE variants showed no genotype or allele differences between patients with IgAV and controls. Increased levels of IL-1ß and TGF-ß mRNA expressions were observed in patients with IgAV (p < 0.001). Patients with the IL-1ß AG genotype showed significantly increased amounts of arthritis than patients with non-AG (p = 0.004). Age at disease onset was found to be significantly different in patients with IgAV according to the presence of TGF-ß TT genotype (p = 0.047). CONCLUSION: Polymorphisms in PTPN22, TGF-ß, IL-5, IL-1ß, and ACE genes are unlikely to confer susceptibility to IgAV. However, the presence of the AG genotype of IL-1ß is associated with susceptibility to IgAV-related arthritis. This is the first study to report a significant increase in serum mRNA levels of IL-1ß and TGF-ß in IgAV patients, supporting a susceptibility to IgAV in childhood.
Asunto(s)
Artritis , Vasculitis por IgA , Niño , Humanos , Interleucina-5/genética , Vasculitis por IgA/genética , Factor de Crecimiento Transformador beta/genética , Peptidil-Dipeptidasa A/genética , Polimorfismo Genético/genética , Genotipo , Reacción en Cadena en Tiempo Real de la Polimerasa , ARN Mensajero/genética , Expresión Génica , Predisposición Genética a la Enfermedad , Frecuencia de los Genes/genética , Estudios de Casos y Controles , Polimorfismo de Nucleótido Simple/genéticaRESUMEN
Background: APECED is a syndrome characterized by autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy. The most observed clinical findings are chronic mucocutaneous candidiasis, hypoparathyroidism, and autoimmune adrenal insufficiency. Case Presentation. A three-year-old male patient was admitted with classical signs of juvenile idiopathic arthritis and treated with nonsteroidal anti-inflammatory drugs. During follow-up, signs of autoimmunity, candidiasis, nail dystrophy, and onychomycosis were observed. The parents were consanguineous, and targeted next-generation sequencing was performed. A homozygous mutation in the AIRE gene SAND domain (c.769C > T, p.Arg257Ter) was detected, and the patient was diagnosed with APECED syndrome. Conclusion: Inflammatory arthritis is rarely described in association with APECED and is often misdiagnosed as juvenile idiopathic arthritis. In APECED cases, nonclassical symptoms such as arthritis may occur before developing classical symptoms and considering the diagnosis of APECED in patients with CMC and arthritis is useful for early diagnosis before development of complications and management of disease.
Asunto(s)
Coagulantes/uso terapéutico , Encía/efectos de los fármacos , Hemorragia/tratamiento farmacológico , Fitoterapia/métodos , Extractos Vegetales/uso terapéutico , Trombastenia/tratamiento farmacológico , Niño , Femenino , Hemorragia/etiología , Humanos , Medicina Tradicional/métodos , Trombastenia/complicacionesRESUMEN
This retrospective study included seven paediatric cases aged from 4 to 14 (10.2±3.4) years with pathologically proved haemophagocytic lymphohistiocytosis from a single institution during 2009 and 2013. Over this time period, 496 patients with brucellosis were diagnosed. None of the patients (3 boys and 4 girls) had a history of any haematologic disorder. All patients had an anamnesis for recently consumed unpasteurised homemade dairy products or had a contact history with sheep and/or cows. The diagnosis of brucellosis was confirmed by standard tube agglutination test in all patients; titres were 1: 1280 in seven patients. Blood culture was positive for Brucella melitensis in three patients (42%). Bone marrow cultures were positive for B. melitensis in four patients (57%). Fever was present in all patients (100%) with haemophagocytic lymphohistiocytosis. The other most common symptoms were malaise, myalgia, anorexia, sweating and weight loss. In addition, sweating was observed in five patients, and lymphadenopathy, petechiae, and weight loss were observed in one patient. Hepatomegaly, splenomegaly, and hepatosplenomegaly were found in four (57%), six (85%) and four (57%), patients, respectively. Haemophagocytosis was documented in bone marrow examinations of all children except in two cases. All patients recovered completely, and their peripheral blood counts returned to normal by 2 to 4 weeks after antibiotic treatment of brucellosis.