Anca negative pauci-immune crescentic glomerulonephritis and mixed connective tissue disease: a case study / Glomerulonefrite crescêntica pauci-imune ANCA-negativa e doença mista do tecido conjuntivo: relato de um caso

Abstract One of the most common causes of rapidly progressive glomerulonephritis (RPGN) is pauci-immune crescentic glomerulonephritis (CrGN). In the majority of cases, this condition has a positive serologic marker, the anti-neutrophil cytoplasmic antibodies (ANCAs), but in approximately 10% there are no circulating ANCAs, and this subgroup has been known as the ANCA-negative pauci-immune CrGN. RPGN can be associated with systemic diseases, but there are only few case reports describing the association with mixed connective tissue disease (MCTD). The authors report a case of ANCA-negative CrGN associated with a MCTD.

Resumo Uma das causas mais comuns da glomerulonefrite rapidamente progressiva (GNRP) é a glomerulonefrite crescêntica (GNC) pauci-imune. Na maioria dos casos, a patologia apresenta um marcador sorológico positivo, o anticorpo anticitoplasma de neutrófilos (ANCA), mas em cerca de 10% dos pacientes não há ANCAs circulantes, perfazendo um subgrupo da patologia conhecido como GNC pauci-imune ANCA-negativa. A GNRP pode estar associada a doenças sistêmicas, mas são poucos os relatos de caso que descrevem sua associação com doença mista do tecido conjuntivo (DMTC). O presente artigo relata um caso de GNC ANCA-negativa associada a DMTC.

Pancreatitis y apendicitis aguda como complicación en una paciente con enfermedad mixta del tejido conectivo / Pancreatitis and acute appendicitis as a complication in a patient with mixed connective tissue disease

Introducción: la enfermedad mixta del tejido conectivo es una afección que incluye manifestaciones clínicas de diversas enfermedades reumáticas. Se caracteriza sobre todo por la presencia de afectación en todos los órganos y sistemas de órganos del cuerpo humano. Las complicaciones relacionadas con el aparato digestivo han sido señaladas como una de las que con mayor frecuencia se presentan. La pancreatitis y la apendicitis suelen presentarse de forma aislada, pero al presentarse al unísono complican más aún la evolución del paciente. Objetivo: dar a conocer los elementos clínicos, de laboratorio e imagenológicos que posibilitan llegar al diagnóstico de apendicitis y pancreatitis en una paciente con enfermedad mixta del tejido conectivo. Caso clínico: se presenta el caso de una paciente de 29 años de edad con diagnóstico de enfermedad mixta del tejido conectivo de 3 años de evolución que es remita al servicio de emergencia con elementos clínicos, de laboratorio e imagenológicos que permiten llegar al diagnóstico de una apendicitis y pancreatitis de presentación conjunta. Conclusiones: la enfermedad mixta del tejido conectivo es una enfermedad sistémica que cursa con una amplia variedad de manifestaciones clínicas y complicaciones. Los procesos agudos como la apendicitis y la pancreatitis suponen un peligro sobreañadido y un factor desencadenante de la actividad de la enfermedad(AU)

Introduction: mixed connective tissue disease is a condition that includes clinical manifestations of various rheumatic diseases. It is characterized above all by the presence of affectation in all organs and organ systems of the human body. Complications related to the digestive system have been identified as one of the most frequent. Pancreatitis and appendicitis usually occur in isolation, but when presented in unison, they complicate the evolution of the patient even more. Objective: to present the clinical, laboratory and imaging elements that make it possible to reach the diagnosis of appendicitis and pancreatitis in a patient with mixed connective tissue disease. Clinical case: the case of a 29-year-old patient with a diagnosis of mixed connective tissue disease of 3 years of evolution is presented, which is referred to the emergency service with clinical, laboratory and imaging elements that allow to reach the diagnosis of a appendicitis and pancreatitis of joint presentation. Conclusions: Mixed connective tissue disease is a systemic disease that presents with a wide variety of clinical manifestations and complications. Acute processes such as appendicitis and pancreatitis pose an added danger and a triggering factor in the activity of the disease(AU)

Mycobacterium chelonae cutaneous infection in a patient with mixed connective tissue disease

Around 50 mycobacteria species cause human disease. Immunosuppressive states predispose to non-tuberculous mycobaterium infection, such as Mycobacterium chelonae: AFB, non-tuberculous, fast growth of low virulence and uncommon as a human pathogen. It may compromise the skin and soft tissues, lungs, lymph nodes and there is also a disseminated presentation. The diagnosis involves AFB identification and culture on Agar and Lowenstein-Jensen medium base. A 41-year-old female with MCTD (LES predominance) is reported, presenting painless nodules in the right forearm. She denied local trauma. Immunosuppressed with prednisone and cyclophosphamide for 24 months. Lesion biopsy has demonstrated positive bacilloscopy (Ziehl-Neelsen stain) and M.chelonae in culture (Lowenstein-Jensen medium base), therefore clarithromycin treatment has been started (best therapy choice in the literature).

Cutaneous mucinosis in mixed connective tissue disease* / Mucinose cutanea na doenca mista do tecido conjuntivo

Cutaneous mucinosis is a group of conditions involving an accumulation of mucin or glycosaminoglycan in the skin and its annexes. It is described in some connective tissue diseases but never in association with mixed connective tissue disease. This report concerns two cases of cutaneous mucinosis in patients with mixed connective tissue disease in remission; one patient presented the papular form, and the other reticular erythematous mucinosis. These are the first cases of mucinosis described in mixed connective tissue disease. Both cases had skin lesions with no other clinical or laboratorial manifestations, with clinical response to azathioprine in one, and to an association of chloroquine and prednisone in the other.

A mucinose cutânea é um grupo de condições em que há um acúmulo de mucina ou glicosaminoglicanos na pele e seus anexos. É descrita em algumas doenças do tecido conjuntivo, porem nunca em associação com doença mista do tecido conjuntivo. Relatamos dois casos de mucinose cutânea em pacientes com doença mista do tecido conjuntivo em remissão, um apresentava-se sob a forma papular e outro sob a forma reticular eritematosa de mucinose. Estes são os primeiros casos de mucinose descritos na doença mista do tecido conjuntivo. Ambos os casos apresentaram o quadro cutâneo de modo isolado, sem nenhuma outra manifestação clínico-laboratorial, havendo resposta à azatioprina em um e à cloroquina associada a prednisona no outro.

Successful Etanercept Therapy for Refractory Sacroiliitis in a Patient with Ankylosing Spondylitis and Mixed Connective Tissue Disease

The concurrence of ankylosing spondylitis (AS) in a patient with mixed connective tissue disease (MCTD) is rarely described in the literature. Significant and sustained efficacy with tumor necrosis factor (TNF)-alpha blockers has been demonstrated in AS patients. However, evidence to date has revealed associated side effects, including antinuclear antibody induction and development of a lupus-like syndrome. Several authors have reported lupus-like manifestations in MCTD patients treated with TNF-alpha blockers used to control peripheral polyarthritis. In our case report, we demonstrate a good response to etanercept therapy for refractory sacroiliitis in a patient with coexisting AS and MCTD, without development of a lupus-like syndrome. This demonstrates that etanercept therapy may be an appropriate therapeutic agent for sacroiliitis in MCTD patients, as it is in AS alone.

Reunión clínica interhospitales / Diagnosis of mixed connective tissue disease

Se presenta el caso clínico de una paciente de 18 años, catalogado inicialmente como LES, con presencia de Ac antiRNP( +) y otras características que hacían planteable la posibilidad de enfermedad mixta del tejido conectivo (EMTC), quien evoluciona con cuadro de hipertensión arterial severa, llegando a emergencia hipertensiva, en relación a dos episodios de crisis convulsiva tónico-clónicas, no presentando deterioro de función renal. Su cuadro hipertensivo se manejó con uso de inhibidor de enzima convertidora de angiotensina (lECA) logrando normalización de cifras tensionales y desaparición de síntomas neurológicos, sin otros parámetros de enfermedad activa, lo que hizo pensar en la posibilidad de un cuadro similar a la crisis renal esclerodérmica, pero en el contexto de esta paciente con probable EMTC. Apoyaría lo anterior el hecho de la excelente evolución sin necesidad de aumentar la terapia esteroidal, ni de asociar otro inmunosupresor en ese momento.

We present the case of a 18-year-old woman, initially diagnosed with SLE. Laboratory exams were positive for anti RNP antibodies. This and some other characterisitics led to the diagnosis of mixed connective tissue disease (MCTD). She evolved into severe arterial hypertension, reaching hypertensive emergency related to two episodes of convulsive tonic-clonic crisis, without kidney failure. Her hypertension was managed with an angiotensin converting enzyme inhibitor (ACE inhibitor), achieving normal tension parameters and disappearance of the neurologic symptoms, without other parameters of active disease, which made us think of a clinical case similar to scleroderma renal crisis, but in the context of this patient with probable MCTD. This is sustained by the fact that the evolution was excellent without the need to in crease steroidal therapy, nor to associate another immune suppressor at that time.

Síndrome de Sharp o conectivitis mixta / Sharp syndrome or mixed connectivitis

El Síndrome de Sharp es una conectivitis en cuyo cuadro clínico se combinan manifestaciones de varias de las mesenquimopatias más frecuentes. Entre sus principales síntomas destacan el Síndrome de Raynaud; las poliartralgias de manos y las mialgias. El Síndrome de Sharp, generalmente no compromete la piel ni las vísceras y entre ellas especialmente el riñón. En el aspecto inmunológico, es característica la presencia, en el suero, y a título elevados de anticuerpos anti RNP. El pronóstico del Síndrome de Sharp es habitualmente benigno y se describe incluso evoluciones regresivas.

Hipertensão arterial pulmonar nas doenças do tecido conjuntivo / Pulmonary arterial hypertension in connective tissue diseases

A hipertensão arterial pulmonar é uma causa importante de morbidade e mortalidade em pacientes com doenças difusas do tecido conjuntivo. É uma manifestação que ocorre em cerca de 10 por cento a 15 por cento dos pacientes com esclerose sistemica, isolada ou associada à doença intersticial pulmonar, e tem prognóstico ruim. Também pode acometer indivíduos com lúpus eritomatoso sistêmico e doença mista do tecido conjuntivo, e mais raramente artrite reumatóide e miopatias inflamatórias. Na esclerose sistêmica, pela pesquisa obrigatória de hipertensão arterial pulmonar no diagnóstico e seguimneto dos pacientes, é frequente o disgnóstico de formas precoces da doença.

Avaliação pulmonar em pacientes com doença mista do tecido conectivo / Pulmonary evaluation in patients with mixed conective tissue disease

Embora, as doenças pulmonares intersticiais difusas sejam consideradas, atualmente, uma característica marcante na doença mista do tecido conectivo, a prevalência e os mecanismos que desencadeiam essa complicação permanecem desconhecidos. O objetivo do nosso estudo foi descrever a prevalência e os padrões radiológicos das doenças pulmonares intersticiais difusas nesta síndrome e avaliar a relação desta complicação com a presença de envolvimento esofágico. Cinqüenta pacientes consecutivos com critérios diagnósticos de Kasukawa para doença mista do tecido conectivo foram incluídos neste estudo e submetidos a realização de testes de função pulmonar, tomografia computadorizada de alta resolução de tórax e manometria e pHmetria esofágica de 24 horas. /Although interstitial lung disease is clearly now a major feature of Mixed Connective Tissue Disease, the prevalence and pathologic mechanisms that trigger this complication in patients with the syndrome remain unknown. Our study was conceived to describe the prevalence and the radiologic patterns of interstitial lung disease in Mixed Connective Tissue Disease and evaluate its relation with the presence of esophageal involvement...

Colagenopatia y meningitis recurrente en una paciente de 88 años / Collagen diseases and recurrent meningitis in an 88 year old patient

La meningitis aséptica recurrente (MAR) en ancianos es rara y generalmente es secundaria a drogas. Su asociación a colagenopatías en ancianos ha sido raramente informada. El Síndrome de Sjögren (SS) en ocasiones afecta el sistema nervioso central, pero la MAR asociada a SS es rara en este grupo etario. Se presenta una paciente de 88 años, autoválida, con antecedentes de xerostomía, xeroftalmos, Raynaud, disfagia y agrandamiento parotídeo recurrente autolimitado. En el año 2001 cursó una meningitis linfocítica y evolucionó con recuperación completa. Un año después volvió a presentar una meningitis linfocítica aséptica. Se descartaroncausas infecciosas. Se demostró FAN 1/160 con patrón nucleolar moteado, Ac anti Ro y anti RNP positivosy anticoagulante lúpico positivo. Se confirmó sequedad ocular y la biopsia de labio fue compatible con SS.Evolucionó con resolución completa en 10 días sin tratamiento. Se interpretó como una enfermedad mixta deltejido conectivo (EMTC) con síntomas predominantemente de SS, que cursó una MAR en su forma pura. La EMTC y el SS deberían ser considerados entre los diagnósticos diferenciales de la MAR, inclusive en ancianos.

Mycobacterium Avium Arthritis with Extra-articular Abscess in a Patient with Mixed Connective Tissue Disease

A case of Mycobacterium avium arthritis in a 39-year-old female patient with mixed connective tissue disease (MCTD) was reported. An extra-articular abscess had formed outside the knee joint and extended down the calf. A culture was taken of the abscess and synovial fluid disclosed Mycobacteriun avium. This was resistant to most anti-tuberculosis agents. A combination of anti-tuberculosis drugs followed a total resection of the abscess. We concluded that M avium septic arthritis could insidiously develop into an extra-articular abscess. A combination of anti-tuberculosis drugs with a total resection of the abscess was an effective treatment.

Linear scleroderma and autoimmune hemolytic anaemia.

Coexistence of localized scleroderma with other autoimmune disorders is not seen frequently. It has been reported to occur with myasthenia gravis, hemiatrophy and systemic lupus erythematosus. In this report we describe an association wherein linear scleroderma coexisted with autoimmune haemolytic anaemia.

A Case of Cholestatic Autoimmune Hepatitis and Acute Liver Failure: an Unusual Hepatic Manifestation of Mixed Connective Tissue Disease and Sjogren's Syndrome

Although hepatomegaly is reported to occur occasionally in patients with mixed connective tissue disease (MCTD) or Sjogren's syndrome (SS), autoimmune liver diseases such as primary biliary cirrhosis, sclerosing cholangitis, and autoimmune hepatitis in association with MCTD or SS have rarely been described. We report a case of severe cholestatic autoimmune hepatitis presenting with acute liver failure in a 40-yr-old female patient suffering from MCTD and SS. The diagnosis of MCTD and SS was made at the age of 38. The patient presented severe jaundice and elevation of conjugated bilirubin. The patient denied alcohol and drug use and had no evidence of viral hepatitis. On the 8th day of her hospitalization, the patient developed grade III hepatic encephalopathy. She was diagnosed as autoimmune hepatitis presenting with acute liver failure based on clinical features, positive FANA and anti-smooth muscle antibodies, negative anti-mitochondrial antibodies, high titers of serum globulin, liver biopsy findings, and a good response to corticosteroid therapy, The patient was managed with prednisolone and the clinical symptoms, liver function test results, and liver biopsy findings showed much improvement after steroid therapy.

Capacidad de predecir una recaída de lupus eritematoso generalizado, mediante anticuerpos anti-DNA de hebra doble, por la técnica de Farr / Predictive capacity of double stranded anti DNA antibodies for relapses in patients with inactive systemic lupus erythematosus using Farr technique

Background: Patients with inactive systemic lupus erythematosus (SLE) and elevated high affinity double-stranded anti-DNA antibodies (anti-dsDNA), measured using Farr technique, would have a risk of relapse that fluctuates between 40 to 80 percent according to different series. Aim: To study the association between anti-dsDNA levels measured using Farr technique and disease activity and their predictive capacity for relapses. Material and methods: Anti-dsDNA antibodies were measured according to Farr method in 60 healthy subjects, 69 patients with other connective tissue diseases and in 120 patients with SLE. Farr positive were considered those individuals with anti-dsDNA levels over 10.4 IU/ml. Disease activity, assessed using MEX-SLEDAI score was related with anti-dsDNA levels in 101 patients. Forty seven patients with inactive disease were followed for 17ñ14 months. Results: Anti-dsDNA levels were 3ñ2.5 IU/ml (range 1-26) in subjects without LED, and 127ñ500 IU/ml (range 1-5280) in patients with LED. Sixty subjects had an active SLE and 43 (72 percent) were Farr positive; in 41 the disease was inactive and 13 (32 percent) were Farr positive (p <0.001), OR 5.45. Twelve of the 47 followed patients had a relapse and 10 (83 percent) were Farr positive. Of those that did not have a relapse, 13 (37 percent) were Farr positive (p< 0.02, RR 5.22). Six of 15 patients that were followed for more than on year (40 percent), were Farr positive. Conclusions: Elevated anti-dsDNA antibodies measured using Farr technique in patients with inactive generalised lupus erythematosus, predicted the risk of relapse. However less than half of patients with inactive disease and elevated Farr relapsed in a period of one year. The need to treat patients with inactive SLE and positive Farr should therefore be considered debatable

Relación entre algunos agentes microbianos y ciertas dermatosis, incluidas algunas colagenopatías / The relation between some microbial agents and some dermatoses, including collagen diseases

Basándonos en una amplia revisión bibliográfica, consideramos que la mayoría, sino todas las enfermedades del tejido conectivo tienen agentes etiológicos disparadores de fenómenos inmunes. La identificación de éstos permitirá ajustar las medidas terapéuticas y profilácticas e impedir, cuando sea posible, el contagio y/o las consecuencias alejadas de estas infecciones

Trastornos funcionales del esófago / Esophageal function disorders

En esta revisión hemos elegido únicamente dos manifestaciones de patología esofágica en las cuales los trastornos motores están presentes: el dolor torácico no cardiogénico y las conectivopatías. El dolor torácico no cardiogénico DTNC es todo aquel que, en ausencia de afectación de la irrigación miocárdica, simula al dolor de origen coronario. Hasta un 30 por ciento de pacientes sometidos a coronariografía no presentan lesiones obstructivas significativas; del referido porcentaje con DTNC, hasta un 60 por ciento reconoce una causa esofágica. Las causas principales de DTNC son: Reflujo Gastroesofágico RGE, Trastornos Motores esofágicos TME y Esófago Irritable EI. La afectación esofágica es frecuente en las enfermedades autoinmunes sistémicas. La diversidad del compromiso esofágico muestra manifestaciones muy marcadas en la esclerosis sistémica progresiva, en la cual el reflujo gastroesofágico y la disfagia contribuyen sustancialmente a la morbilidad asociada con la enfermedad. En otros casos las manifestaciones pueden ser menores y no tener clínica relevante

Enfermedad Mixta del Tejido Conectivo / Mixed Connective Tissue Disease

Paciente de 35 años que ingresa con un cuadro de gangrena de dedos de ambas manos y ambos pies, con síndrome séptico que motiva la amputación de ambos pies. El estudio de su patología de base indicó una vasculitis, sin trombosis, ni fenómenos específicos, con disminución de las luces arteriales e infiltrados mononucleares, como manifestación de una Enfermedad Mixta del Tejido Conectivo. Se contemplan aspectos clínicos, laboratorio y conducta terapéutica.

Muscle ultrastructure in a case of mixed connective tissue disease and Sjogren's syndrome

Una mujer negra de 29 años de edad, con diagnósticos clínicos y serológicos de sindrome de Sjögren y enfermedad mixta del tejido conectivo, presentó un importante compromiso muscular, bilatera y proximal, consistente en debilidad y pérdida de masa. El estudio electromiográfico fue anormal y los niveles plasmáticos de enzimas musuculares estaban elevados. El estudio ultraestructural de una biopsia muscular mostró diferentes grados de atrofia y la presencia de una pérdida subsarcolémica de la estructura sarcomérica formándose regiones con material contráctil de diversas densidades electrónicas. Los capilares eran de tipo proliferativo con la luz distorsionada u ocluida, y con engrosamiento de la membrana basal. Una anormalidad capilar inusual fue la presencia de membranas basales engrosadas y plegadas, entremezcladas con porciones d eendotelio y de macrófagos. Se evidenció un infiltrado de células mononucleadas formado por linfocitos, células plasmáticas, macrófagos y escasos mastocitos. Este trabajo es el primer estudio ultraestructural de la patología muscular en un caso con diagnósticos de enfermedad mixta del tejido conectivo y sindrome de Sjögren, basados en hallazgos clínicos y en la presencia de anticuerpos contra los antígenos RNP, SS-A y SS-B