Screening and diagnostic algorithm of hereditary metabolic nephropathies in newborns

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