Registro de pacientes con inmunodeficiencias primarias en los tres principales centros de referencia del Perú

García-Gomero, David; Córdova-Calderón, Wilmer; Becerra, Juan Carlos Aldave

doi:10.17843/rpmesp.2018.353.3317

Cited by 6 publications

(9 citation statements)

References 1 publication

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“…Also, more than half reported having suspected PIDD, a higher percentage relative to a previous national report (42%). (23) In this study, 44.6% of physicians reported having ordered ancillary tests when dealing with PIDD patients, the most common being laboratory tests, such as serum immunoglobulin levels differential lymphocyte count. This finding is somewhat different from those of a study conducted with pediatricians in the United Arab Emirates.…”

Section: ❚ Discussionmentioning

confidence: 74%

“…However, specialized laboratories have not followed this trend. (8) Antibody deficiency has been singled out as the most common PIDD in several studies (6,12,(23)(24)(25) and the diagnosis of this condition does not require complex laboratory infrastructure. (26) Nevertheless, a Peruvian report including 13 national hospitals reported limited access to immunological tests, such as immunoglobulin levels (56.5%).…”

Section: ❚ Discussionmentioning

confidence: 99%

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Awareness of primary immunodeficiency diseases at a national pediatric reference center in Peru

Veramendi-Espinoza

Zafra-Tanaka

Toribio-Dionicio

et al. 2021

Einstein (São Paulo)

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Objective: To investigate the level of awareness of primary immunodeficiency diseases among physicians working at Instituto Nacional de Salud del Niño. Methods: Cross-sectional study including pediatric residents and pediatricians working at the Instituto Nacional de Salud del Niño during the study period (2017)(2018)(2019). Physicians working at the immunology unit and surgery departments were excluded. Three aspects of awareness of primary immunodeficiency diseases were investigated: education, general knowledge, and diagnostic suspicion and actions taken in the face of suspicion. Results: This sample comprised 83 physicians with a median age of 33 years. Most physicians were women (71.1%) and half were pediatric residents. During their undergraduate studies, 43.1% had taken primary immunodeficiency disease courses, and 39.2% had attended conferences on this topic. During their residency training, 25.9% had taken primary immunodeficiency disease courses, and 60.3% had participated in conferences on this topic. Among pediatricians, 50% had taken primary immunodeficiency disease courses, and 53.1% had attended conferences on this topic. Only 39.8% of physicians reported being familiar with the list of 10 warning signs developed by the Jeffrey Modell Foundation. More than half of physicians considered the lack of access to laboratory tests the major challenge in making diagnosis of primary immunodeficiency diseases. Conclusion: This study revealed limited awareness of primary immunodeficiency diseases among physicians working at Instituto Nacional de Salud del Niño. Although most physicians suspected primary immunodeficiency diseases in patients with a history of recurrent infections and frequent use of antibiotics, not all of them were familiar with the list of 10 warning signs proposed by the Jeffrey Modell Foundation, nor were they able to describe ancillary tests requested in suspected cases.

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Section: ❚ Discussionmentioning

confidence: 74%

Section: ❚ Discussionmentioning

confidence: 99%

Awareness of primary immunodeficiency diseases at a national pediatric reference center in Peru

Veramendi-Espinoza

Zafra-Tanaka

Toribio-Dionicio

et al. 2021

Einstein (São Paulo)

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“…En Perú, existe un infradiagnóstico de inmunodeficiencias primarias (IDP), ello debido en gran parte a las dificultades logísticas y económicas para la realización de un diagnóstico confirmatorio (9) . Por su parte, los defectos en la producción de anticuerpos son las IDP más frecuentes reportadas en Perú y su tratamiento implica la utilización de inmunoglobulina humana, medicamento fundamental para alterar la historia natural de la enfermedad, evitar infecciones a repetición y hospitalizaciones (10) .…”

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“…Se realizó un estudio descriptivo que incluyó a pacientes menores de 18 años con sospecha clínica de agammaglobulinemia primaria que acudieron al Centro de Referencia Nacional de Alergia e Inmunología (CERNAAI) del Instituto Nacional de Salud del Niño (INSN), pero que en muchos casos se atienden actualmente en otros centros de tercer nivel. Los pacientes pertenecen a un registro peruano de pacientes con inmunodeficiencias primarias, previamente reportado (10) . Se incluyeron pacientes menores de 18 años con diagnóstico de agammaglobulinemias primarias establecido por un inmunólogo clínico en base a criterios de la International Union of Immunological Societies (IUIS) con cuadro clínico compatible y de linfocitos B CD19+ ausentes (1) entre el 1 de junio de 2011 al 1 de junio de 2014.…”

Section: El Estudiounclassified

Diagnóstico genético de pacientes con agammaglobulinemia primaria atendidos en centros peruanos de tercer nivel

Matos-Benavides¹,

García-Gomero

Inocente-Malpartida

et al. 2019

Rev Peru Med Exp Salud Publica

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Las agammaglobulinemias primarias (AP) resultan de alteraciones específicas en las células B, lo cual, conduce a baja producción de anticuerpos. La sospecha diagnóstica se establece con el antecedente de infecciones a repetición, inmunoglobulinas bajas y la ausencia linfocitos B CD19+. El diagnóstico se confirma mediante el análisis genético y la detección de una mutación ligada en el cromosoma X o autosómico recesiva o dominante. En Perú, no hay literatura sobre AP ni reportes sobre el genotipo de los pacientes con sospecha de AP. Bajo este escenario, se realizó un estudio que describió el genotipo de pacientes con sospecha de AP. Se encontraron 20 pacientes con mutaciones en el gen BTK y una mutación autosómica recesiva IGHM. Se hallaron 13 mutaciones hereditarias y siete mutaciones de novo. Se concluye que las AP son, en su mayoría, mutaciones en el gen BTK que corresponden con AP ligadas al cromosoma X.

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“…In Peru, there is still limited access to molecular diagnosis for most the genetic disorders including A-T. To the best of our knowledge, there are only clinical reports of A-T based on clinical criteria [Lazo Rivera et al, 2014;García Gomero et al, 2018].…”

Section: Introductionmentioning

confidence: 99%

Novel Compound Heterozygous Mutation c.3955_3958dup and c.5825C>T in the ATM Gene: Clinical Evidence of Ataxia-Telangiectasia and Cancer in a Peruvian Family

et al. 2021

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Pathogenic and likely pathogenic variants in the ATM gene are associated both with Ataxia-telangiectasia disease or ATM syndrome and an increased cancer risk for heterozygous carriers. We identified a novel compound heterozygous mutation c.3955_3958dup (p.Asp1320delinsValTer) and c.5825C>T (p.Ala1942Val) in the ATM gene in a Peruvian patient with progressive ataxia combined with other movement disorders, mild conjunctival telangiectasia and increased alpha-fetoprotein, without history of recurrent infection or immunodeficiency. We also determined the carrier status of the family members, and we were able to detect gastric and breast cancer at an early stage during the cancer risk assessment in the mother (c.3955_3958dup). Here, we describe clinical evidence for the novel compound heterozygous mutation and c.3955_3958dup not previously reported.

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Registro de pacientes con inmunodeficiencias primarias en los tres principales centros de referencia del Perú

Cited by 6 publications

References 1 publication

Awareness of primary immunodeficiency diseases at a national pediatric reference center in Peru

Awareness of primary immunodeficiency diseases at a national pediatric reference center in Peru

Diagnóstico genético de pacientes con agammaglobulinemia primaria atendidos en centros peruanos de tercer nivel

Novel Compound Heterozygous Mutation c.3955_3958dup and c.5825C>T in the <b><i>ATM</i></b> Gene: Clinical Evidence of Ataxia-Telangiectasia and Cancer in a Peruvian Family

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Registro de pacientes con inmunodeficiencias primarias en los tres principales centros de referencia del Perú

Cited by 6 publications

References 1 publication

Awareness of primary immunodeficiency diseases at a national pediatric reference center in Peru

Awareness of primary immunodeficiency diseases at a national pediatric reference center in Peru

Diagnóstico genético de pacientes con agammaglobulinemia primaria atendidos en centros peruanos de tercer nivel

Novel Compound Heterozygous Mutation c.3955_3958dup and c.5825C&#x3e;T in the <b><i>ATM</i></b> Gene: Clinical Evidence of Ataxia-Telangiectasia and Cancer in a Peruvian Family

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Novel Compound Heterozygous Mutation c.3955_3958dup and c.5825C>T in the <b><i>ATM</i></b> Gene: Clinical Evidence of Ataxia-Telangiectasia and Cancer in a Peruvian Family