Medicina clinica
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To analyse the differences in the cardio-metabolic profile of patients with primary aldosteronism (PA) and autonomous cortisol secretion (ACS) matched by age and sex. ⋯ Despite the higher prevalence of hypertension in the patients with PA than in the patients with ACS matched by age and sex, no differences were detected in the prevalence of other cardio-metabolic comorbidities. However, the PA patients showed a greater deterioration in kidney function and lipid profile throughout the follow-up than the ACS patients.
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The overgrowth syndromes related to phosphatidylinositol-4,5-bisphosphate 3-kinase (PI3K) are grouped under the concept of PROS (PIK3CA-related overgrowth spectrum). It is a heterogeneous group of diseases, considered a rare disease (ORPHA: 530313), which combines the presence of vascular malformations with segmental overgrowth of some parts of the body. All these diseases are caused by mutations in the gene that encodes for the alpha subunit of PI3K. ⋯ Depending on the stage of embryonic development and the affected germ layers, the phenotype will be very different, from syndromes with extensive involvement to isolated forms. Although there are clinical criteria, identification of the mutation by biopsy, although complex, confirms the diagnosis. The objective of the present study is to review the pathophysiological, clinical, diagnostic, and therapeutic aspects of PROS, in order to optimize its identification.