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

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 (2017-2019). 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.

Ascending paresis as presentation of an unusual association between necrotizing autoimmune myopathy and systemic lupus erythematosus.

A 45 year-old man went to the emergency room due to disease duration of 15 days of insidious onset and progressive course. It began with symmetrical weakness and pain in feet and ankles that extends upward to the knees. Later, this progressed to paraparesis with Creatine phosphokinase levels of 44,270 U/L and respiratory failure that required mechanical ventilation. Electromyography and muscle biopsy of quadriceps were made. The patient responded to corticotherapy in pulses and supporting management. The presentation of ascending paresis suggested the diagnosis of Guillain-Barré syndrome. However, the degree of muscle involvement with rhabdomyolysis explains the neurological damage by itself. The biopsy revealed pathological criteria for necrotizing autoimmune myopathy (NAM), as well as other clinical and laboratory evidence. Patient disease continued and reached criteria for systemic lupus erythematosus (SLE). To our best knowledge, this is the first report of the NAM and SLE association.