Pseudohypoaldosteronism associated with hypertrophic cardiomyopathy, hypertension and thrombocytosis due to mutation in the ELAC2 gene: a case report.

OBJECTIVES: PHA1 is a rare heterogeneous disorder featured by changes in renal electrolyte transport due to mineralocorticoid resistance. The aim of the current study is to report the case of a child with 5-year follow-up presenting mutation in the ElaC Ribonuclease Z 2 (ELAC2) gene and clinical-laboratory diagnosis of pseudohypoaldosteronism type 1 (PHA1), as well as atypical clinical manifestations such as thrombocytosis, borderline aldosterone levels, and plasma renin activity. CASE PRESENTATION: The patient was treated with corticosteroids and salt replenishment. His cardiological condition presented gradual regression and the introduction of new food items in his diet dismissed the need of salt replenishment. CONCLUSIONS: This new molecular mechanism should be taken into consideration in differential diagnoses in children with hyperkalemia, hyponatremia, delayed growth, hypertension and hypertrophic cardiomegaly.

Hypomagnesemia and its relation with chronic low-grade inflammation in obesity.

INTRODUCTION:: The accumulation of visceral fat in obesity is associated with excessive production of proinflammatory adipokines, which contributes to low-grade chronic inflammation state. Moreover, the literature has shown that mineral deficiency, in particular of magnesium, has important role in the pathogenesis of this metabolic disorder with relevant clinical repercussions. OBJECTIVE:: To bring updated information about the participation of hypomagnesemia in the manifestation of low-grade chronic inflammation in obese individuals. METHOD:: Articles published in PubMed, SciELO, LILACS and ScienceDirect, using the following keywords: "obesity," "magnesium" and "low grade inflammation." RESULTS:: Scientific evidence suggests that magnesium deficiency favors the manifestation of low-grade chronic inflammation in obese subjects. CONCLUSION:: From literature data, it is evident the participation of magnesium through biochemical and metabolic reactions in protecting against this metabolic disorder present in obesity.

Hypomagnesemia and its relation with chronic low-grade inflammation in obesity / Hipomagnesemia e sua relação com a inflamação crônica de baixo grau na obesidade

Summary Introduction: The accumulation of visceral fat in obesity is associated with excessive production of proinflammatory adipokines, which contributes to low-grade chronic inflammation state. Moreover, the literature has shown that mineral deficiency, in particular of magnesium, has important role in the pathogenesis of this metabolic disorder with relevant clinical repercussions. Objective: To bring updated information about the participation of hypomagnesemia in the manifestation of low-grade chronic inflammation in obese individuals. Method: Articles published in PubMed, SciELO, LILACS and ScienceDirect, using the following keywords: "obesity," "magnesium" and "low grade inflammation." Results: Scientific evidence suggests that magnesium deficiency favors the manifestation of low-grade chronic inflammation in obese subjects. Conclusion: From literature data, it is evident the participation of magnesium through biochemical and metabolic reactions in protecting against this metabolic disorder present in obesity.

Resumo Introdução: O acúmulo de gordura visceral na obesidade está associado à produção excessiva de adipocinas pró-inflamatórias, o que contribui para o estado de inflamação crônica de baixo grau. A literatura também tem mostrado que a deficiência de minerais, em particular do magnésio, possui papel importante na patogênese desse distúrbio metabólico com repercussões clínicas relevantes. Objetivo: Trazer informações atualizadas sobre a participação da hipomagnesemia na inflamação crônica de baixo grau em indivíduos obesos. Método: Bases de dados Pubmed, SciELO, Lilacs e ScienceDirect, utilizando as palavras-chave: "obesity", "magnesium" e "low grade inflammation". Resultados: As evidências científicas sugerem que a deficiência de magnésio favorece a manifestação da inflamação crônica de baixo grau em indivíduos obesos. Conclusão: É evidente a participação do magnésio, por meio de reações bioquímicas e metabólicas, na proteção contra esse distúrbio metabólico presente na obesidade.

[Bezafibrate in an infant with congenital generalized lipodystrophy and severe hypertriglyceridemia]. / Bezafibrato em lactente portador de lipodistrofia generalizada congênita e hipertrigliceridemia grave.

Congenital generalized lipodystrophy (CGL) with severe hypertriglyceridemia in a children less than 1 year of age is associated with worse metabolic risk. We used data from patient records, as well as extensive literature research to write the manuscript. We report the case of an infant with typical phenotype of CGL and hypertriglyceridemia of 1,360 mg/dL who was treated with bezafibrate at a dose of 30 to 60 mg/day from age 11 months to 5.5 years old, with a measurement of nadir of triglycerides of 55 mg/dL. Clinical evolution and clinical laboratory tests before and after bezafibrate were carried out over 5 years and 6 months. Phenotype was classified as CGL type 2. Despite the efficient control of hypertriglyceridemia and absence of development of diabetes mellitus, the use of bezafibrate did not prevent the onset of hepatic steatosis during evolution. Hypolipidemic therapy with bezafibrate proved effective in maintaining the levels of triglycerides, cholesterol and its fractions at normal levels, and its use was not correlated with severe side effects during the described period.

Bezafibrato em lactente portador de lipodistrofia generalizada congênita e hipertrigliceridemia grave / Bezafibrate in an infant with congenital generalized lipodystrophy and severe hypertriglyceridemia

Lipodistrofia congênita generalizada (CGL) com hipertrigliceridemia extrema desde o primeiro ano de vida está associada a piores riscos metabólicos. Foram utilizados dados contidos no prontuário do paciente, bem como revisão bibliográfica para composição do texto. Relatamos o caso de um lactente com fenótipo típico e hipertrigliceridemia de 1.360 mg/dL, que foi tratado com bezafibrato na dose de 30 a 60 mg/dia dos 11 meses aos 5 anos e 6 meses de idade, aferindo um nadir de triglicérides de 55 mg/dL. Evolução clínico-laboratorial antes e após bezafibrato foi feita ao longo de cinco anos e seis meses. O fenótipo apresentado foi classificado clinicamente em CGL tipo 2. Apesar do controle eficiente da hipetrigliceridemia e da ausência de desenvolvimento de diabetes melito, o uso de bezafibrato não impediu o aparecimento de esteatose hepática durante a evolução. A terapia antilipemiante com fibrato se mostrou eficaz em manter níveis normais de triglicerídeos, colesterol e suas frações e não se associou a efeitos colaterais graves durante o período descrito.

Congenital generalized lipodystrophy (CGL) with severe hypertriglyceridemia in a children less than 1 year of age is associated with worse metabolic risk. We used data from patient records, as well as extensive literature research to write the manuscript. We report the case of an infant with typical phenotype of CGL and hypertriglyceridemia of 1,360 mg/dL who was treated with bezafibrate at a dose of 30 to 60 mg/day from age 11 months to 5.5 years old, with a measurement of nadir of triglycerides of 55 mg/dL. Clinical evolution and clinical laboratory tests before and after bezafibrate were carried out over 5 years and 6 months. Phenotype was classified as CGL type 2. Despite the efficient control of hypertriglyceridemia and absence of development of diabetes mellitus, the use of bezafibrate did not prevent the onset of hepatic steatosis during evolution. Hypolipidemic therapy with bezafibrate proved effective in maintaining the levels of triglycerides, cholesterol and its fractions at normal levels, and its use was not correlated with severe side effects during the described period.

Síndrome de Cushing associada à hiperplasia macronodular das adrenais: apresentaçäo de um caso e revisäo da literatura / Cushing's syndrome associated with macronodular adrenal hyperplasia: report of a case and literature review

O objetivo dessa apresentaçäo é discutir a Síndrome de Cushing secundária à hiperplasia macronodular primária das adrenais. Inicialmente, será apresentado um caso clínico e, em seguida, seräo discutidos a apresentaçäo clínica, laboratorial, radiológica e histológica, e os possíveis mecanismos patogenéticos envolvidos no desenvolvimento dessa patologia.