RESUMO
Hepatocrinology explores the intricate relationship between liver function and the endocrine system. Chronic liver diseases such as liver cirrhosis can cause endocrine disorders due to toxin accumulation and protein synthesis disruption. Despite its importance, assessing endocrine issues in cirrhotic patients is frequently neglected. This article provides a comprehensive review of the epidemiology, pathophysiology, diagnosis, and treatment of endocrine disturbances in liver cirrhosis. The review was conducted using the PubMed/Medline, EMBASE, and Scielo databases, encompassing 172 articles. Liver cirrhosis is associated with endocrine disturbances, including diabetes, hypoglycemia, sarcopenia, thyroid dysfunction, hypogonadotropic hypogonadism, bone disease, adrenal insufficiency, growth hormone dysfunction, and secondary hyperaldosteronism. The optimal tools for diagnosing diabetes and detecting hypoglycemia are the oral glucose tolerance test and continuous glucose monitoring system, respectively. Sarcopenia can be assessed through imaging and functional tests, while other endocrine disorders are evaluated using hormonal assays and imaging studies. Treatment options include metformin, glucagon-like peptide-1 analogs, sodium-glucose co-transporter-2 inhibitors, and insulin, which are effective and safe for diabetes control. Established standards are followed for managing hypoglycemia, and hormone replacement therapy is often necessary for other endocrine dysfunctions. Liver transplantation can address some of these problems.
Assuntos
Diabetes Mellitus , Hipoglicemia , Sarcopenia , Humanos , Automonitorização da Glicemia , Sarcopenia/diagnóstico , Sarcopenia/etiologia , Sarcopenia/terapia , Glicemia/metabolismo , Cirrose Hepática/complicações , Cirrose Hepática/diagnóstico , Cirrose Hepática/terapia , Sistema Endócrino/metabolismo , Diabetes Mellitus/epidemiologia , Insulina/uso terapêutico , Hipoglicemia/complicaçõesRESUMO
BACKGROUND: Obesity is a multifactorial chronic disease with a high, increasing worldwide prevalence. Genetic causes account for 7% of the cases in children with extreme obesity. DATA SOURCES: This narrative review was conducted by searching for papers published in the PubMed/MEDLINE, Embase and SciELO databases and included 161 articles. The search used the following search terms: "obesity", "obesity and genetics", "leptin", "Prader-Willi syndrome", and "melanocortins". The types of studies included were systematic reviews, clinical trials, prospective cohort studies, cross-sectional and prospective studies, narrative reviews, and case reports. RESULTS: The leptin-melanocortin pathway is primarily responsible for the regulation of appetite and body weight. However, several important aspects of the pathophysiology of obesity remain unknown. Genetic causes of obesity can be grouped into syndromic, monogenic, and polygenic causes and should be assessed in children with extreme obesity before the age of 5 years, hyperphagia, or a family history of extreme obesity. A microarray study, an analysis of the melanocortin type 4 receptor gene mutations and leptin levels should be performed for this purpose. There are three therapeutic levels: lifestyle modifications, pharmacological treatment, and bariatric surgery. CONCLUSIONS: Genetic study technologies are in constant development; however, we are still far from having a personalized approach to genetic causes of obesity. A significant proportion of the affected individuals are associated with genetic causes; however, there are still barriers to its approach, as it continues to be underdiagnosed. Video Abstract (MP4 1041807 KB).
Assuntos
Leptina , Obesidade Mórbida , Criança , Humanos , Pré-Escolar , Leptina/genética , Estudos Prospectivos , Estudos Transversais , Obesidade , Obesidade Mórbida/genética , Melanocortinas/genéticaRESUMO
El síndrome de reacción a fármacos con eosinofilia y síntomas sistémicos es una reacción de hipersensibilidad a fármacos poco común, pero con una alta mortalidad, por ello se requiere un diagnóstico precoz y un manejo oportuno. Presentamos el caso de una mujer de 32 años con diagnóstico de epilepsia y trastorno esquizofreniforme orgánico, secundarios a encefalitis viral, y que ha recibido tratamiento con múltiples fármacos. Tres semanas después de añadir carbamazepina de liberación prolongada a su terapia habitual, la paciente presentó una erupción cutánea difusa tipo habón, edema facial, fiebre, linfadenopatía, leucocitosis con eosinofilia y elevación de las transaminasas. La administración de la carbamazepina fue suspendida, se administró antihistamínicos y glucocorticoides por vía oral, y la paciente mejoró.
The drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a rare but highly lethal drug hypersensitivity reaction. Thus, it requires an early diagnosis and timely management. We present the case of a 32-year-old female patient with a diagnosis of epilepsy and organic schizophreniform disorder, secondary to viral encephalitis, who was treated with multiple drugs. Three weeks after the addition of extended-release carbamazepine to her usual therapy, the patient presented a diffuse welt-type skin rash, facial edema, fever, lymphadenopathy, leukocytosis with eosinophilia and elevated transaminases. Carbamazepine administration was discontinued, antihistamines and glucocorticoids were administered orally, and the patient showed a remarkable improvement.
RESUMO
RESUMEN Presentamos el caso de un paciente de 40 años con diagnóstico previo de neurofibromatosis y un antecedente crónico de episodios de rectorragias intermitentes que acude al servicio de emergencia por una rectorragia asociada a hipotensión y taquicardia, y es hospitalizado. En los exámenes complementarios se evidencian hemorroides internas de grado 1 que no se correlacionaban con las características clínicas del paciente. Debido a la naturaleza intermitente del cuadro hemorrágico se sospechó de alguna malformación vascular, la cual se confirmó posteriormente mediante una angiografía abdomino-pélvica.
ABSTRACT We present the case of a 40-year-old male with a previous diagnosis of neurofibromatosis and a chronic history of intermittent rectal bleeding episodes. He visited the emergency service for frequent rectal bleeding associated with hypotension and tachycardia, and was hospitalized. Complementary tests evidenced grade 1 internal hemorrhoids not associated with the clinical features of the patient. Due to the intermittent nature of the bleeding, a vascular malformation was suspected, which was subsequently confirmed by a pelvic and abdominal angiography.