Síndrome de Vogt-Koyanagi-Harada / Vogt-Koyanagi-Harada Syndrome

El síndrome de Vogt-Koyanagi-Harada es una enfermedad autoinmune multisistémica crónica, caracterizada por panuveítis difusa granulomatosa bilateral con desprendimiento exudativo de retina y papilitis. Compromete el sistema nervioso central (meninges, disacusia neurosensorial) así como piel y mucosas. A pesar de ser una enfermedad compleja y poco frecuente, se hace necesario comprender la importancia del diagnóstico rápido y el tratamiento oportuno con seguimiento especializado. Es por ello que se decidió realizar una revisión de la literatura con el objetivo de actualizar los conocimientos existentes sobre este tema. La búsqueda se realizó en diferentes publicaciones y textos básicos de la especialidad. Las fuentes consultadas fueron las bases de datos PubMed y Google Scholar. El diagnóstico de la enfermedad es esencialmente clínico y son los oftalmólogos quienes más lo sospechan por ser los síntomas oculares los más frecuentes y dramáticos. El pronóstico visual de los pacientes es generalmente bueno si el diagnóstico es precoz y se indica un tratamiento adecuado. Los corticosteroides sistémicos a altas dosis asociados a inmunosupresores y agentes biológicos tienen gran impacto en la evolución de la enfermedad, sobre todo estos últimos a nivel mundial, previniendo complicaciones y permitiendo resultados visuales satisfactorios para una mejor calidad de vida del paciente(AU)

Vogt-Koyanagi-Harada syndrome is a chronic multisystem autoimmune disease characterized by bilateral diffuse granulomatous panuveitis with exudative retinal detachment and papillitis. It involves the central nervous system (meninges, sensorineural dysacusis) as well as skin and mucous membranes. In spite of being a complex and infrequent disease, it is necessary to understand the importance of rapid diagnosis and timely treatment with specialized follow-up. For this reason, it was decided to carry out a review of the literature with the aim of updating the existing knowledge on this subject. The search was carried out in different publications and basic texts of the specialty. The sources consulted were the PubMed and Google Scholar databases. The diagnosis of the disease is essentially clinical and it is the ophthalmologists who suspect it the most because the ocular symptoms are the most frequent and dramatic. The visual prognosis of patients is generally good if the diagnosis is early and adequate treatment is indicated. Systemic corticosteroids at high doses associated with immunosuppressants and biological agents have a great impact on the evolution of the disease, especially the latter worldwide, preventing complications and allowing satisfactory visual results for a better quality of life of the patient(AU)

Tratamiento sustitutivo en la insuficiencia suprarrenal crónica / Replacement treatment for chronic adrenal failure

La insuficiencia suprarrenal crónica es una enfermedad que se caracteriza por el déficit de las hormonas de la corteza adrenal. Necesita tratamiento sustitutivo de por vida para lograr suplir ese déficit y así poder desarrollar una vida normal y con calidad. Para el éxito del tratamiento sustitutivo es muy importante conocer sus pautas y variantes, lo que resulta un arma en el trabajo diario de los galenos. Conocer las tendencias actuales resulta algo imprescindible, por lo que el propósito del siguiente trabajo es revisar las diferentes variantes del tratamiento que se pueden usar en este grupo de enfermos(AU)

Chronic adrenal failure is a disease characterized by shortage of adrenal cortex hormones. It requires lifelong replacement treatment to overcome this shortage in order to enjoy quality normal life. For the replacement treatment to be successful, it is very important to learn about its guidelines and variants, which is a useful tool in the daily work of physicians. Knowing the present trends is indispensable; therefore, the objective of this paper was to review the different treatment variants that may be used in this group of patients(AU)

Síndrome da dor vesical/cistite intersticial: aspectos atuais / Bladder pain syndrome/interstitial cystitis: current aspects

Síndrome da dor vesical é a nomenclatura proposta para substituir o termo antigamente conhecido como cistite intersticial. Deve ser diagnosticada com base nas queixas de dor, pressão ou desconforto pélvico crônico, relacionados à bexiga acompanhados por pelo menos outro sintoma urinário como urgência ou aumento de frequência. A prevalência estimada é de 300 por 100.000 mulheres. A etiologia e a fisiopatologia ainda não foram elucidadas, mas mecanismos neurológicos centrais, fatores genéticos, imunológicos e infecciosos parecem estar envolvidos. O diagnóstico é de exclusão e deve ser baseado nos sintomas. O teste com cloridrato de potássio intravesical não deve ser usado como ferramenta diagnóstica. A cistoscopia com hidrodistensão e biópsia auxilia na documentação e classificação da doença. O tratamento deverá ser multidisciplinar e multimodal, associando-se medicações orais com intravesicais, modificações na dieta e no estilo de vida e medidas não farmacológicas

Bladder pain syndrome is the nomenclature proposed to replace the term formerly known as interstitial cystitis. It should be diagnosed based on complaints of pain, chronic pelvic pressure or discomfort related to bladder accompanied by at least one other urinary symptom, such as urgency or increased frequency. The estimated prevalence is 300 per 100,000 women. The etiology and pathophysiology have not been elucidated, but central neurologic mechanisms, genetic, immunological and infectious factors seem to be involved. The diagnosis is by exclusion and should be based on symptoms. The test with intravesical potassium chloride should not be used as a diagnostic tool. Cystoscopy with hydrodistenstion and biopsy assist in the documentation and classification of the disease. Treatment should be multidisciplinary and multimodal, associating intravesical and oral medications, changes in diet and in lifestyle and nonpharmacological measures

Endoteliopatía corneal autoinmune como manifestación de uveitis intermedia / Corneal autoimmune endotheliopathy as manifestation of intermediate uveitis in children

Background: Intermediate Uveitis (IU) is an important cause of uveitis in children. It is considered a chronic intraocular inflammation that mainly affects the anterior vitreous and peripheral retina. Pars Planitis is a subtype of IU, consisting of a white opacity that covers the pars plana and ora serrata plus vitreous condensations in the eye. Corneal endothelium disease is a rare clinical finding associated with pars planitis. Objective: Describe the corneal manifestations in IU and its associated treatment between ophthalmology and pediatric rheumatology. Case-report: A 5 years-old boy with autoimmune endotheliopathy and unilateral pars planitis in the right eye. Initially, he was treated topically, but evolved with intraocular complications that required systemic medication. Long-term follow-up was performed, searching for associated systemic diseases, until one of these entities appeared. Conclusion: It is very important to search for inflammation in the anterior vitreous and pars plana in all children with corneal endotheliopathy, considering that an early and integral management of IU could diminish the risk of visual impairment as a complication.

Introducción: La Uveitis Intermedia (UI) es una causa importante de uveitis infantil. Se considera como una inflamación intraocular crónica que afecta principalmente a la retina periférica y vitreo anterior. La Pars Planitis es un subtipo de UI caracterizada por opacidades blanquecinas sobre la pars plana y ora serrata más condensaciones vitreas. La enfermedad del endotelio corneal es un hallazgo clínico infrecuente asociado con la Pars Planitis. Objetivo: Destacar la manifestación corneal de una UI y el tratamiento de la enfermedad entre oftalmólogo y reumatólogo infantil. Caso clínico: Se presenta caso clínico de niño de 5 años de edad con endoteliopatía autoinmune asociada a Pars Planitis unilateral del ojo derecho, que en principio se trató localmente, pero evolucionó con complicaciones intraoculares que requirieron medicación sistémica y se efectuó un seguimiento clínico por varios años buscando enfermedades sistémicas asociadas a UI hasta que ella apareció. Conclusión: Es necesario buscar la presencia de inflamación de pars plana y vitreo en todo niño que se presente con endoteliopatía corneal, considerando que el tratamiento oportuno y manejo integral del paciente con UI puede disminuir el riesgo de pérdida visual asociado a las complicaciones de esta enfermedad.

Cushing's syndrome: aftermath of the cure

Cushing's syndrome (CS) is a chronic and systemic disease caused by endogenous or exogenous hypercortisolism, associated with an increase of mortality rate due to the clinical consequences of glucocorticoid excess, especially cardiovascular diseases. After cure, usually obtained by the surgical removal of the tumor responsible for the disease, the normalization of cortisol secretion is not constantly followed by the recovery of the clinical complications developed during the active disease, and it is often followed by the development of novel clinical manifestations induced by the fall of cortisol levels. These evidences were mostly documented in patients with pituitary-dependent CS, after surgical resection of the pituitary tumor. Indeed, despite an improvement of the mortality rate, metabolic syndrome and the consequent cardiovascular risk have been found to partially persist after disease remission, strictly correlated to the insulin resistance. Skeletal diseases, mainly osteoporosis, improve after normalization of cortisol levels but require a long period of time or the use of specific treatment, mainly bisphosphonates, to reach the normalization of bone mass. A relevant improvement or resolution of mental disturbances has been described in patients cured from CS, although in several cases, cognitive decline persisted and psychological or psychiatric improvement was erratic, delayed, or incomplete. On the other hand, development or exacerbation of autoimmune disorders, mainly thyroid autoimmune diseases, was documented in predisposed patients with CS after disease remission. The totality of these complications persisting or occurring after successful treatment contribute to the impairment of quality of life registered in patients with CS after disease cure.

A síndrome de Cushing (SC) é uma desordem sistêmica crônica causada por hipercortisolismo endógeno ou exógeno, associada a um aumento da taxa de mortalidade devido às conseqüências clínicas do excesso de glicocorticóides, especialmente a doença cardiovascular. Após a cura, usualmente obtida pela remoção cirúrgica do tumor responsável pela desordem, a normalização da secreção de cortisol não é sistematicamente seguida da recuperação das complicações clínicas desenvolvidas durante a fase ativa da doença, e é freqüentemente seguida pelo surgimento de novas manifestações clínicas induzidas pela queda dos níveis de cortisol. Estas evidências foram, na sua maioria, documentadas em pacientes com SC de origem hipofisária, após a ressecção cirúrgica do tumor na hipófise. Na verdade, a despeito de uma melhoria na taxa de mortalidade, a síndrome metabólica e seu conseqüente risco cardiovascular têm se mostrado parcialmente persistentes após a remissão da doença, em estrita relação com a resistência à insulina. Anormalidades esqueléticas, especialmente a osteoporose, melhoram após a normalização dos níveis de cortisol, mas requerem um longo tempo ou o uso de tratamento específico, principalmente bisfosfonatos, para se obter a normalização da massa óssea. Uma melhora significativa ou mesmo resolução dos distúrbios mentais têm sido descritos em pacientes curados da SC, embora em vários casos o declínio cognitivo persista e a melhora psicológica ou psiquiátrica tenham sido erráticas, demoradas ou incompletas. Por outro lado, o desenvolvimento ou exacerbação de processos autoimunes, em especial as doenças autoimunes da tiróide, foram documentadas em pacientes predispostos com SC, após a remissão da doença. A totalidade dessas complicações, persistentes ou ocorrendo após o tratamento bem sucedido, contribuem para um prejuízo da qualidade de vida registrado em pacientes com SC após a cura da doença.

Molecular mimicry between Trypanosoma cruzi and host nervous tissues

Increasing evidence suggests that in Chagas' disease chronic-phase pathology is autoimmune in nature. There are at least two nonexclusive explanations for the generation of autoimmunity in Chagas disease: a) infection with the parasite perturbs immunoregulation, leading to loss of tolerance for self-antigens; b) immune recognition of T. cruzi antigens is crossreactive with selected mammalian antigens, leading to autoimmunity (molecular mimicry). Through this latter mechanism, T. cruzi antigens that share epitopes with mammalian nervous tissue may drive autoreactive B- or T-cell clones to expand and cause autoimmune lesions in chronic chagasic patients. Several different antigens sharing this characteristic have been studied, as for example the 160-kDa flagellum-associated surface protein (Fl-160), which has a nervous tissue crossreactive epitope composed by twelve amino acids. Additionally, it has been demonstrated that a trypomastigote stage-specific 85kDa surface glycoprotein (Gp85) has terminal galactosyl(alpha 1-3)galactose terminal residues, which are reactive with chronic chagasic sera. Common glycolipid antigens have also been reported, as for example galactocerebroside, sulfogalactocerebroside and sulfoglucuronylcerebroside, all of them specifically present at high concentrations in mammalian nervous system and in T. cruzi trypomastigotes. Chronic chagasic patients produce elevated levels of antibodies against these three glycolipid antigens. They also do against terminal galactosyl(alpha 1-3)galactose residues present on several acid and neutral glycolipids common either to nervous system or parasite. These antibodies are powerful lytic for circulating T. cruzi trypomastigotes. Another common strongly immunogenic residues are galactosyl(alpha 1-2)galactose, galactosyl(alpha 1-6)galactose and galactofuranosyl(beta 1-3)mannose residues present on several glycoinositolphospholipids (GIPL), against which chronic chagasic patients have elevated levels of specific antibodies. In brief, very specific host-parasite relationships existing only in Chagas' disease may explain the particular peripheral nervous tissue damage seen in acute or chronic stages of this disease. This specificity could depend either on invasion of autonomic ganglia by T. cruzi trypomastigotes and modification of nervous cell surface structures by some of the several mechanisms of acquired molecular mimicry

Cirrose biliar primária associada a esclerodermia e síndrome de Sjögren / Primary biliary cirrhosis associated with scleroderma and Sjogren's syndrome

Relatamos um caso clínico de uma paciente de 49 anos que apresentava cirrose biliar primária, associada a esclerodermia e Síndrome de Sjögren. O diagnóstico da cirrose biliar primária foi confirmado através de dosagem de fosfatase alcalina, anticorpos anti-mitocondriais e biópsia hepática; o de esclerodermia através da clínica e da biópsia da pele. Para a Síndrome de Sjögren realizamos teste de Shirmer, Rosa-bengala e biópsia labial. Pretendemos com este relato levantar a possibilidade de uma etiopatogenia comum para diferentes doenças auto-imunes