Endocrine Abstracts

Introduction: Hydroxymethylglutaric aciduria is a rare metabolic disease that is caused by the deficiency of the enzyme 3-hydroxy-3-methylglutaryl-CoA lyase, which participates in the metabolism of leucine and in the formation of ketone bodies. The symptomatology usually occurs in the first two years of life and consists of nausea, vomiting, diarrhea, hypotoniaanddepressed level of consciousness. Metabolic acidosis occurs during crises as a result of the accumulation of metabo...

Introduction: Recently, PCSK9 inhibitors have been approved in our country for familial hypercholesterolemia and for patients with cardiovascular diseases. They are still scarce data in real life patients effects.Objective: Analyse the features of first patients treated with PCSK9 inhibitors in a specific unit of familial dyslipidemia and the effect on lipid profile and other clinical variables.Material and methods: Data from patie...

Introduction: Hyponatraemia is the most common electrolytic disorder in clinical practice. We designed a protocol, based on the latest consensus statements and adapted to our Hospital, for the use of 3% hypertonic saline solution (HSS) in patients with hyponatraemia.Material and methods: Unicentric observational study of a case series. We collected data from 14 adult patients with severe hyponatraemia (serum sodium [SNa] <125 mmol/l) and mild-moderat...