Screening and diagnostic algorithm of hereditary metabolic nephropathies in newborns

• Fuentes Milián, Yangel ^[1] ; Tamayo Ribeaux, Danyer Daniel ^[2] ; Cepero Rodríguez, Anabel ^[3] ; Martínez Pérez, Bárbara ^[4]
  1. [1] Universidad de Ciencias Médicas de Pinar del Río. Facultad de Ciencias Médicas “Dr. Ernesto Che Guevara de la Serna”. Hospital General Docente “Abel Santamaría Cuadrado”. Servicio de Nefrología. Pinar del Río. Cuba
  2. [2] Universidad de Ciencias Médicas de Granma. Facultad de Ciencias Médicas “Celia Sánchez Manduley”. Hospital Clínico-Quirúrgico Docente “Celia Sánchez Manduley”. Servicio de Medicina Interna. Granma. Cuba
  3. [3] Universidad de Ciencias Médicas de Ciego de Ávila. Facultad de Ciencias Médicas “José Assef Yara”. Departamento de Ciencias Básicas Biomédicas. Ciego de Ávila. Cuba
  4. [4] Universidad de Ciencias Médicas de Guantánamo. Facultad de Tecnología y Enfermería “Rafael García Moreaux”. Hospital General Docente “Dr. Agustino Neto”. Servicio de Laboratorio Clínico. Guantánamo. Cuba

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• Localización: Multidisciplinar (Montevideo), ISSN-e 3046-4064, Nº. 2, 2024 (Ejemplar dedicado a: Multidisciplinar (Montevideo))
• Idioma: inglés
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  • Introduction: inborn errors of metabolism expressed as hereditary nephropathies, entail various biochemical abnormalities that facilitate their screening and diagnosis in the newborn.Objective: to offer a useful, ideal, simple and reliable screening alternative as a tool for the diagnosis of hereditary metabolic nephropathies in newborns.Methods: an observational and cross-sectional study was carried out during the period September 2021-February 2023, at the Abel Santamaría Cuadrado General Teaching Hospital, Pinar del Río province, Cuba. The universe consisted of 90 patients and a representative sample of 63 was taken. The variables were studied: glycemia, lactinemia, ammonemia, arterial hemogasometry, urinalysis, hyperazotemia, heel test and perinatal risk factors associated with hyperazotemia. Empirical, theoretical and statistical methods were used. Medical ethics were respected.Results: the correlation predominated hypoglycemia, hyperlactinemia and hyperammonemia with an incidence of 55.56% and patients with metabolic acidosis in 49.21%. A greater frequency was observed in the correlation of patients with alterations in the urinary supernatant and hyperazoemia, for 33.33% of the sample. The number of patients with negative neonatal screening was higher, at 87%. Low birth weight and prematurity were the perinatal risk factors most associated with hyperazoemia in the patients treated, 36.51% and 33.33% respectively.Conclusions: the results obtained show high sensitivity and low specificity, but they still give us a reliable parameter and a tool to help diagnose hereditary metabolic nephropathies