Background: There is a need for better prediction of disease severity in patients infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Soluble angiotensin-converting enzyme 2 (sACE2) arises from shedding of membrane ACE2 (mACE2) that is known to be a receptor for the spike protein of SARS-CoV-2; however, its value as a biomarker for disease severity is unknown. This study evaluated the predictive value of sACE2 in the context of other known biomarkers of inflammation and tissue damage (C-reactive protein [CRP], growth/differentiation factor-15 [GDF-15], interleukin-6 [IL-6], and soluble fms-like tyrosine kinase-1 [sFlt-1]) in patients with and without SARS-CoV-2 with different clinical outcomes. Methods: For univariate analyses, median differences between biomarker levels were calculated for the following patient groups classified according to clinical outcome: reverse transcription polymerase chain reaction (RT-PCR)-confirmed SARS-CoV-2 positive (Groups 1 – 4); RT-PCR-confirmed SARS-CoV-2 negative following previous SARS-CoV-2 infection (Groups 5 and 6); and RT-PCR-confirmed SARS-CoV-2 negative controls (Group 7). Results: Median levels of CRP, GDF-15, IL-6, and sFlt-1 were significantly higher in patients with SARS-CoV-2 who were admitted to hospital compared with patients who were discharged (all p<0.001), whereas levels of sACE2 were significantly lower (p<0.001). Receiver operating characteristic curve analysis of sACE2 provided cut-offs for the prediction of hospital admission of ≤0.05 ng/mL (positive predictive value: 89.1%) and ≥0.42 ng/mL (negative predictive value: 84.0%). Conclusion: These findings support further investigation of sACE2, either as a single biomarker or as part of a panel, to predict hospitalisation risk and disease severity in patients infected with SARS-CoV-2.
Objectives Congenital X-linked adrenal hypoplasia is a rare disease with a known genetic basis characterized by adrenal insufficiency, hypogonadotropic hypogonadism, and a wide variety of clinical manifestations. Case presentation We present the case of a 26-day old male newborn with symptoms consistent with adrenal insufficiency, hyponatremia, and hyperkalemia. Following NaCl and fludrocortisone supplementation, the patient remained clinically stable. 17-OH-progesterone testing excluded congenital adrenal hyperplasia. The rest of hormones were within normal limits, except for adrenocorticotropic hormone (ACTH), which was significantly elevated, and aldosterone, which was below the reference value. Further testing included very long chain fatty acids to exclude adrenoleukodystrophy, the CYP11B2 gene (aldosterone synthase), and an MRI to screen for other morphological abnormalities. All tests yielded normal results. Finally, after cortisol deficiency was detected, expanded genetic testing revealed a mutation in the NR0B1 gene, which led to a diagnosis of congenital adrenal hypoplasia. Conclusions Diagnosis of congenital adrenal hypoplasia is challenging due to the heterogeneity of both clinical manifestations and laboratory abnormalities. As a result, diagnosis requires close monitoring and genetic testing.
Resumen Objetivos La hipoplasia suprarrenal congénita ligada al cromosoma X es una enfermedad rara con base genética conocida, que se presenta con insuficiencia suprarrenal e hipogonadismo hipogonadotrófico y expresión clínica variable. Caso clínico Paciente varón, de 26 días, que ingresó con síntomas compatibles con insuficiencia suprarrenal, hiponatremia e hiperpotasemia, requiriendo sueroterapia con suplementos de NaCl y fludrocortisona, consiguiéndose estabilidad clínica. Se descartó la hiperplasia suprarrenal congénita tras la medición de 17-OH-progesterona. El resto de hormonas estaban dentro de los intervalos de referencia, salvo la hormona adrenocorticotrópica (ACTH), sensiblemente por encima, y la aldosterona, por debajo. En los siguientes análisis se estudiaron los ácidos grasos de cadena muy larga para descartar adrenoleucodistrofia, el gen CYP11B2 (aldosterona sintasa), y se realizó una RMN para descartar otras alteraciones morfológicas. Todas estas pruebas resultaron normales. Finalmente, tras detectar déficit de cortisol en una analítica, se realizó un estudio genético más amplio donde se describió una mutación en el gen NR0B1, estableciéndose el diagnóstico de hipoplasia suprarrenal congénita. Conclusiones La hipoplasia suprarrenal congénita es una enfermedad de diagnóstico complejo debido a la variabilidad en la expresión clínica y el grado de alteración de las pruebas de laboratorio, requiriéndose un seguimiento exhaustivo y la realización de pruebas genéticas para llegar al diagnóstico.
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