Síndrome de Berardinelli-Seip: identificação de anormalidades imunológicas e a relação com hipoleptinemia

Abstract

The Berardinelli-Seip syndrome (SBS) is a rare autosomal recessive disease characterized by a near complete absence of adipose tissue and metabolic disorders such as hypertriglyceridemia, hyperlipidemia and diabetes mellitus. The reduction of serum leptin concentration is another important finding in the SBS and is related to changes in adipocyte function. Leptin is an adipocytokine that plays an important role in the regulation of various systems, including the immune system, acting directly or indirectly on immunity. This study aimed to identify the presence of immunological abnormalities and evaluate the relationship between changes found and leptin deficiency. The study was approved by the Ethics Committee and were included 28 subjects, 10 males and 18 females, all diagnosed with SBS. Analyses were performed biochemical serum and leptin, in addition to evaluation of hematologic parameters, immunoglobulin dosages (IgA, IgG, IgM and IgE), complement proteins (C3 and C4) and the count of lymphocyte subpopulations (T lymphocytes, B and natural killer cells) using immunophenotyping by flow cytometry. All study subjects had significantly lower leptin averaging 1.00±0,45ng/mL. Immunological evaluation showed an increase in the concentrations of immunoglobulins and complement proteins compared with serum leptin was no statistically significant difference in IgA, IgM, C3 and C4. In the assessment of immunophenotype was no statistically significant difference with B lymphocyte count (CD19+) (p<0,05) compared with leptin. The results showed alterations in innate and adaptive immune response. The changes found may involve the development of various diseases, contributing mainly to the increased risk of infections. Additional studies are needed to confirm and assist in the investigation of the effect of leptin on immunity.