Angioedema hereditário: considerações sobre terapia

Chagas, Kélem de Nardi; Arruk, V G; Andrade, Maria Elisa Bertocco; Vasconcelos, Dewton de Moraes; Kirschfink, Michael; Duarte, Alberto José da Silva; Grumach, Anete Sevciovic

doi:10.1590/s0104-42302004000300041

Cited by 6 publications

(4 citation statements)

References 24 publications

(28 reference statements)

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“…Church JA reported the use of 0.1 mg/kg/day in a child and virilizing effects were seen. The drug has to be formulated so decreasing concentrations could be tried (level III evidence) 86, 87.…”

Section: Resultsmentioning

confidence: 99%

International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency

Farkas

Martinez‐Saguer²,

Bork

et al. 2016

Allergy

167

277

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BackgroundThe consensus documents published to date on hereditary angioedema with C1 inhibitor deficiency (C1‐INH‐HAE) have focused on adult patients. Many of the previous recommendations have not been adapted to pediatric patients. We intended to produce consensus recommendations for the diagnosis and management of pediatric patients with C1‐INH‐HAE.MethodsDuring an expert panel meeting that took place during the 9th C1 Inhibitor Deficiency Workshop in Budapest, 2015 (www.haenet.hu), pediatric data were presented and discussed and a consensus was developed by voting.ResultsThe symptoms of C1‐INH‐HAE often present in childhood. Differential diagnosis can be difficult as abdominal pain is common in pediatric C1‐INH‐HAE, but also commonly occurs in the general pediatric population. The early onset of symptoms may predict a more severe subsequent course of the disease. Before the age of 1 year, C1‐INH levels may be lower than in adults; therefore, it is advisable to confirm the diagnosis after the age of one year. All neonates/infants with an affected C1‐INH‐HAE family member should be screened for C1‐INH deficiency. Pediatric patients should always carry a C1‐INH‐HAE information card and medicine for emergency use. The regulatory approval status of the drugs for prophylaxis and for acute treatment is different in each country. Plasma‐derived C1‐INH, recombinant C1‐INH, and ecallantide are the only agents licensed for the acute treatment of pediatric patients. Clinical trials are underway with additional drugs. It is recommended to follow up patients in an HAE comprehensive care center.ConclusionsThe pediatric‐focused international consensus for the diagnosis and management of C1‐INH‐HAE patients was created.

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Section: Resultsmentioning

confidence: 99%

International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency

Farkas

Martinez‐Saguer²,

Bork

et al. 2016

Allergy

167

277

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“…Although it is an autosomal dominant disease, it is detected more frequently and severely in women. [1][2][3][4][5] Family history with similar clinical manifestations reinforces the HAE diagnosis. About 75-80% of HAE cases occur in the same family while 20-25% of cases are due to novel spontaneous mutations.…”

Section: Resultsmentioning

confidence: 90%

“…(2) C1-INH dysfunction due to a mutation in exon 8 of the SERPING1 gene that results in the secretion of a non-functional protein; and (3) normal C1-INH that may be associated with mutations in the F12, ANGPT1, PLG, and Kininogen 1 (KNG1) genes, mainly found in female patients with normal C1-INH protein levels and activity. [1][2][3][4][5][6][7][8][9][10][11][12][13][14] A variant of the ANGPT1 gene was reported to interfere with the interaction between the angiopoietin protein and its natural receptor, endothelial tunica of the kinase cell-(TIE2), in endothelial cells leading to increased vascular permeability and edema. 12,15, 16 A mutation in the PLG gene has also been reported to increase fibrinolysis, which in turn causes plasmin formation and increased levels of bradykinin, leading to edema (PLG).…”

Section: Resultsmentioning

confidence: 99%

Study of angiopoietin and plasminogen genes in hereditary angioedema

Kruk

Chong-Neto

Dias

et al. 2020

Rev. Assoc. Med. Bras.

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SUMMARY OBJECTIVE To investigate the presence of the Angiopoietin 1 (ANGPT1) and Plasminogen (PLG) mutations in patients with Hereditary Angioedema (HAE) and normal C1 esterase inhibitor (C1-INH) levels, who do not harbor the F12 gene mutation. METHODS Patients clinically diagnosed with HAE but without C1-INH deficiency or dysfunction and F12 gene mutation were evaluated. DNA extraction, quantification, and dilution were performed at a concentration of 100 ng/µL, followed by a DNA amplification (PCR) for molecular evaluation of exon 2 of the ANGPT1 gene and exon 9 of the PLG gene for identification of mutations c.807G>T / p.A119S and c.988A>G / p.K330E, respectively. The PCR product was evaluated in 1% agarose gel electrophoresis. Sequencing was performed using the Sanger method. The electropherograms were analyzed using the FASTA® program. RESULTS DNA samples from 15 women were sequenced. Their ages ranged from 10 to 60 years and the normal C1 esterase and C4 inhibitor serum levels ranged from 22 to 39 mg/dL and from 10 to 40 mg/dL, respectively. No mutations were detected in the analyzed exons of ANGPT1 and PLG. However, a single-nucleotide polymorphism (SNP) was detected in two homozygotic and five heterozygotic patients. CONCLUSION Further studies are needed to evaluate these SNPs and scrutinize their potential for use as molecular markers of HAE and as novel therapeutic targets.

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“…Nas crises agudas de AEH, o tratamento consiste na administração de concentrado purificado de C1-INH ou na falta deste, na infusão de plasma fresco congelado (Chagas et al;2004). A profilaxia com andrógenos atenuados (danazol, estanazolol e oxandrolona) é efetiva na prevenção dos sintomas quando sua freqüência e gravidade afetam a qualidade de vida.…”

Section: -Angioedema Hereditáriounclassified

Avaliação de mutações no gene do inibidor de C1 esterase em pacientes com angioedema hereditário

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Angioedema hereditário: considerações sobre terapia

Cited by 6 publications

References 24 publications

International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency

International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency

Study of angiopoietin and plasminogen genes in hereditary angioedema

Avaliação de mutações no gene do inibidor de C1 esterase em pacientes com angioedema hereditário

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