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[NPHS2 Mutation analysis study in children with steroid-resistant nephrotic syndrome]. / Identificación de variantes del gen NPHS2 en niños con síndrome nefrótico corticorresistente.
Azocar, Marta; Vega, Álvaro; Farfán, Mauricio; Cano, Francisco.
Afiliação
  • Azocar M; Unidad de Nefrología, Servicio de Pediatría, Hospital Luis Calvo Mackenna, Departamento Pediatría y Cirugía Infantil Oriente, Facultad de Medicina, Universidad de Chile, Santiago, Chile. Electronic address: maazocar@med.uchile.cl.
  • Vega Á; Programa de Doctorado en Ciencias Médicas asociado a Especialidad Clínica (Pediatría), Facultad de Medicina, Universidad de Chile, Hospital Luis Calvo Mackenna, Santiago, Chile.
  • Farfán M; Laboratorio de Biología Molecular, Hospital Luis Calvo Mackenna, Departamento de Pediatría Oriente, Facultad de Medicina, Universidad de Chile, Santiago, Chile.
  • Cano F; Unidad de Nefrología, Servicio de Pediatría, Hospital Luis Calvo Mackenna, Departamento Pediatría y Cirugía Infantil Oriente, Facultad de Medicina, Universidad de Chile, Santiago, Chile.
Rev Chil Pediatr ; 87(1): 31-6, 2016.
Article em Es | MEDLINE | ID: mdl-26455708
UNLABELLED: Podocin is a protein located in the glomerular slit diaphragm where it takes part in the regulation of glomerular filtration. Mutations of the NPHS2 gene that codes podocin are the main cause of autosomal recessive steroid resistant nephrotic syndrome (SRNS). OBJECTIVES: To identify the NPHS2 mutations in Chilean children with SRNS, and to determine the prevalence of the most common variants in a group of healthy adults. PATIENTS AND METHODS: Mutation analysis of NPHS2 in 34 Chilean children with SRNS. Once the two most common variants of NPHS2 were identified, screening for these mutations was performed on 233 healthy adults. The mutation analysis was performed by the direct sequencing of the eight coding exons by polymerase chain reaction amplification. The DNA sequencing was performed using a fluorometric method, and then evaluated with SeqPilot software. The relationship between the presence of NPHS2 variants and SRNS was calculated by comparing the allele frequency between patients with SRNS and those of the healthy volunteers using the exact Fisher test. A P<.05 was considered significant. RESULTS: Pathogenic NPHS2 mutations were detected in 7 (21%) of the 34 patients studied, of which 6 were heterozygotes for p.R229Q and p.A284V. The presence of p.R229Q was 2.46% in the healthy volunteers. CONCLUSIONS: This study shows that p.R229Q and p.A284V are the most frequent variants in Chilean children with SRNS. It is the first time that this relationship has been reported in Chilean children. Based on this, a screening strategy is proposed for the genetic study in patients with SRNS and their families. A parallel or sequential search strategy for p.R229Q and p.A284V in these patients is proposed.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peptídeos e Proteínas de Sinalização Intracelular / Proteínas de Membrana / Mutação / Síndrome Nefrótica Tipo de estudo: Diagnostic_studies / Observational_studies / Prevalence_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged País/Região como assunto: America do sul / Chile Idioma: Es Revista: Rev Chil Pediatr Ano de publicação: 2016 Tipo de documento: Article País de publicação: Chile

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peptídeos e Proteínas de Sinalização Intracelular / Proteínas de Membrana / Mutação / Síndrome Nefrótica Tipo de estudo: Diagnostic_studies / Observational_studies / Prevalence_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged País/Região como assunto: America do sul / Chile Idioma: Es Revista: Rev Chil Pediatr Ano de publicação: 2016 Tipo de documento: Article País de publicação: Chile