The X-linked adrenoleukodystrophy (ALD) is a severe neurodegenerative disorder due to mutations in the ABCD1 gene. Objective: To report a case of a 19-year-old man with adrenal insufficiency due to adrenoleukodystrophy. Method: Case report and literature review. Result: A previously healthy 19-year-old male patient was admitted to the emergency room with nausea and vomiting for 5 days, who progressed to abdominal pain, severe asthenia, and fever (38.5˚C). He referred progressive darkening of the skin, oral mucosa, tongue and nail bed of the hands and feet, observed in the last 6 years. Emergency laboratory evaluation showed severe hyponatremia and hyperkalemia, which, together with decreased plasma cortisol, directed the investigation to causes of adrenal insufficiency. High ACTH (Adrenocorticotropic hormone) and very long chain fatty acid levels closed the diagnosis. Discussion: ALD is characterized by progressive demyelination in the central and peripheral nervous system and adrenal insufficiency consequence to the accumulation of very long chain fatty acids (VLCFA) in the adrenal. The overall incidence of ALD is 1:17,000. Adrenal insufficiency may be the first symptom of ALD in boys and adults. The diagnosis is based on the measurement of VLCFA plasma levels. Allogeneic bone marrow transplantation is the only treatment that provides a permanent cure when the procedure is performed at an early stage of brain demyelination, i.e. when patients are asymptomatic, although brain magnetic resonance imaging (MRI) is abnormal. Treatment of Addison's disease is obligatory, but does not change the course of neurological symptoms.
Obesity is a public health problem and its prevalence increases every year, resulting from a complex interaction between genetic, metabolic and environmental factors, as well as cultural influences. The Intestinal Microbiota is composed of trillions of microorganisms by forming a symbiotic relationship with the host and helping the absorption of various nutrients, increasing the extraction of components of the diet, the lipogenesis and intestinal permeability. Studies show that there is difference between the composition of the intestinal microbiota of an obese person and a healthy one. The purpose of this article is to review the literature on the relationship between the Intestinal Microbiota, Obesity and Insulin Resistance and also illustrate some studies on the subject.
Time in Range is a new concept in Diabetology, defining the percentage of the length of time in which the patient stays within a predetermined range of blood glucose. Electronic devices, from which the concept of Time in Range derived, help promote a better comprehension of these procedures, and may lead to a decrease in glycemic variability and to a lower risk of complications. It may also ease the control and adjustments in the treatment of diabetes. Therefore, the application of the Time in Range concept could generate a better diabetes control. Diabetes Mellitus is a chronic metabolic disease caused by hyperglycemia due to changes related to insulin production and action. It has high morbidity and mortality and high prevalence and may affect several age groups. Currently, its classification is based on its etiology, with the most common diagnoses being pre-diabetes, type 1, type 2 and gestational diabetes. It should be investigated early in patients who have risk factors such as obesity and physical inactivity. It is diagnosed by alterations in fasting or random glucose measurement, oral glucose tolerance test and glycated hemoglobin. Its control and monitoring should be based on glycemic stability. Even more mechanisms are being developed to help the patient in the control of blood glucose, avoiding risks of acute and chronic complications, which can be severe and limiting.
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