Primary Malignant Peritoneal Mesothelioma Associated with Renal Cell Carcinoma. A Concise Review Based on a Clinical Case Baseada num Caso Clínico

O Mesotelioma peritoneal maligno é um tumor maligno relacionado frequentemente com exposição prolongada a fibras de amianto, de mau prognóstico, de diagnóstico geralmente tardio, face à pouca expressão clínica na fase inicial da doença. Como o mesotelioma evolui geralmente só na cavidade peritoneal, doentes seleccionados poderão ter maior sobrevivência se for possível a peritonectomia extensa e quimioterapia hipertérmica intraperitoneal intraoperatória. Os autores referem a sincronicidade ainda não descrita, de mesotelioma peritoneal maligno primário e carcinoma de Grawitz. São revistos concisamente: a clínica destes tumores, síndromes paraneoplásicos (disfunção bioquímica hepática, emagrecimento extremo); etiopatogenia da acção cancerígena das fibras de amianto; mecanismos de disseminação intraperitoneal; avaliação tomodensitométrica; importância da imunohistoquímica no diagnóstico histopatológico; estadiamento; importância do tratamento multidisciplinar destes tumores.

Renal Replacement Therapy in Critically Ill Patients - What Modality Should We Choose?

A lesão renal aguda é uma complicação comum nas unidades de cuidados intensivos. A mortalidade do doente crítico que requer diálise é extremamente elevada, apesar dos avanços significativos dos cuidados prestados a estes doentes. Há várias décadas que se discute o tipo de modalidade dialítica a oferecer a estes doentes (continua ou intermitente) e os principais fatores que pesam na decisão clínica são os meios e a experiência do centro, bem como a condição clínica do doente. Vários estudos tentaram estabelecer a melhor abordagem ao doente crítico com lesão renal aguda e necessidade dialítica, em termos de sobrevida do doente e recuperação renal. Nesta revisão tentarei resumir as evidências disponíveis sobre este tema.

Impacto da Terapia de Ressincronização Cardíaca na Qualidade de Vida em Doentes com Insuficiência Cardíaca Congestiva Refractária

A terapêutica de ressincronização cardíaca (TRC), associada ou não a cardioversor-desfibrilhador, está recomendada no tratamento de doentes com insuficiência cardíaca congestiva (ICC) refractária e disfunção sistólica grave do ventrículo esquerdo, com evidência de dessíncronia. Objectivo: avaliar o impacto da TRC na qualidade de vida de doentes com ICC refractária ao tratamento farmacológico optimizado.

Phaeohyphomycosis Caused by Alternaria Infectoria Presenting as Multiple Vegetating Lesions in a Renal Transplant Patient

The genus Alternaria is one of the most common black moulds and appears to be increasing as a causative agent of subcutaneous phaeohyphomycosis, particularly among immunosuppressed patients. A 53-year-old patient who had received a kidney transplant presented with multiple verrucous lesions on the distal extremities. Positive histopathology and cultures, in addition to rDNA ITS region sequencing, identified the fungal isolate as Alternaria infectoria. Oral itraconazole was administered for 10 months. A follow-up at 15 months demonstrated no signs of infection. Clinical manifestations of cutaneous alternariosis vary significantly and only a few cases have been described in the literature. Although optimal treatment options remain controversial, this case of phaeohyphomycosis was successfully treated with itraconazole monotherapy.

Simulador de Técnicas de Depuração Extra-Renal/Hemofiltração: Uso da Simulação para Treino no Manuseamento deste Dispositivo

Introdução: A simulação possibilita o ensino e treino de técnicas de suporte de vida complexas sem riscos para o doente. Até ao momento, as únicas opções de treino no manuseamento de terapêuticas de depuração extra-renal contínua (TDEC) eram a aprendizagem directa em doentes submetidos a esta técnica ou mediante observação dos efeitos da manipulação do circuito não conectado ao doente. Por este motivo foi elaborado um simulador de TDEC, usado em cursos de simulação realizados para treino de equipas de cuidados intensivos pediátricos (UCIP). Objectivos: Analisar a performance e utilidade de um novo simulador que possibilita o controlo externo do dispositivo de TDEC, simulando "in situ" cenários que mimetizam condições de doentes tratados com TDEC. Métodos: Foi criado um dispositivo que, uma vez conectado ao aparelho de TDEC, permite o controlo em tempo real de todas as pressões de hemofiltração, de acordo com as condições clínicas e acções dos participantes. Foram simulados diversos cenários e complicações possíveis em doentes submetidos a estas técnicas e avaliada a performance deste dispositivo "in vitro". A satisfação dos participantes foi avaliada mediante a aplicação de um inquérito. Resultados: Foram realizados 4 cursos de TDEC de Maio de 2009 a Março de 2012. Incluídos 60 participantes, todos com experiência clínica prévia em UCIP. Realizados 32 cenários, abrangendo complicações relacionados com o cateter, coagulação dos filtros e ajuste inadequado dos parâmetros de hemofiltração. Nos cenários simulados, o dispositivo simulador permitiu, em tempo real, mudanças simples e rápidas nas pressões do monitor de TDEC e em resposta às atitudes tomadas pelos participantes para a sua resolução. Não foram registadas intercorrências relacionadas com disfunção do dispositivo. Os participantes consideraram-no muito útil como ferramenta de aprendizagem activa, permitindo uma gestão realista das condições clínicas simuladas, com potencial impacto sobre a sua futura prática diária. Os instrutores consideraram-no fácil de manusear e realista. Conclusões: Este simulador permite uma simulação mais fidedigna dos cenários de TDEC, resolvendo o problema da interferência do instrutor no cenário simulado. Este poderia melhorar as capacidades dos simuladores de alta fidelidade disponíveis e utilizar-se como uma ferramenta docente na formação de profissionais de saúde.

A Prospective Assessment of Renal Transplantation Versus Haemodialysis: Which Therapeutic Modality Is Good Value for Society?

Background: Economic evaluations help health authorities facing budget constraints. This study compares the health-related quality of life (HRQOL) and costs in patient subgroups on haemodialysis (HD) and renal transplantation (KT). Methods: In a prospective study with follow-up of 1-3 years, we performed a costutility analysis of KT vs. HD, adopting a lifetime horizon. A societal perspective was taken. Costs for organ procurement, KT eligibility, transplant surgery and follow-up of living donors were included. Key clinical events were recorded. HRQOL was assessed using the EuroQol instrument. Results: The HRQOL remained stable on HD patients. After KT, mean utility score improved at 3 months while mean EQ-VAS scores showed a sustained improvement. Mean annual cost for HD was 32,567.57€. Mean annual costs for KT in the year-1 and in subsequent years were, 60,210.09€ and 12,956.77€ respectively. Cost for initial hospitalization averaged 18,740.74€. HLA-mismatches increased costs by 75% for initial hospitalization (p < 0.001) and 41% in the year-1 (p < 0.05), and duplicate the risk of readmission in the year-1 (p < 0.05). The incremental costutility ratio was 5,534.46€/QALY, increasing 35% when costs for organ procurement were added. KT costs were 41,541.63€ more but provided additional 7.51 QALY. Conclusions: The KT is cost-effective compared with HD. Public funding should reflect the value created by the intervention and adapt to the organ demand.

Insuficiência Pulmonar Valvular Congénita

Descrevem-se 4 casos de Insuficiência Pulmonar Valvular Congénita com septo interventricular intacto em crianças de sexo masculino com idades compreendidas entre os 20 meses e os 10 anos, na 1a observação na Consulta de Cardiologia Pediátrica. 0 diagnóstico clínico de regurgitação pulmonar foi confirmado por electrocardiograma, fonocardiograma e radiografia de tórax em todos os doentes e também por ecocardiograma, exame hemodinâmico e angiocardiográfico em 3 deles. Após um follow-up que variou entre 1 e 9 anos, média 5 anos e 2 meses, concluiu-se que a Insuficiência Pulmonar Valvular Congénita, como cardiopatia isolada, é bem tolerada em idades pediátricas e compatível com desenvolvimento físico e actividade normais.

Renal Disease in Madeira Islands: Twenty-Seven Years' Experience of Native Kidney Biopsies

Introduction: Renal biopsy plays an essential role either in the diagnosis or in the prognosis of patients with renal disease. In order to assess its epidemiology and evolution in Madeira Islands, we analysed twenty-seven years of native kidney biopsies. Methods: We performed a retrospective analysis of clinical records, including histological revision from 1986 to 2012, totalling 315 native kidney biopsies. They were assessed regarding the temporal evolution both for the quality/indications for renal biopsy and for the patterns of kidney disease. Results: A total of 315 native kidney biopsies were analysed. The patients’ mean age was of 40.8 ± 18.4 years and 50.5%(n = 159) were males. The most common indications for renal biopsy were nephrotic syndrome (36.2%, n = 114) and acute kidney injury (20.0%, n = 63). Among primary glomerular diseases (41.5%, n = 115) the most common were IgA nephropathy (26.1%, n = 30) and focal-segmental glomerulosclerosis (17.4%, n = 20) and among secondary glomerular diseases (31.4%, n = 87), lupus nephritis (51.7%, n = 45) and amyloidosis (20.7%, n = 18). Statistical analysis revealed significant correlation between gender and major pathological diagnosis (Fisher’s exact test, p <.01) and between indications for renal biopsy and major pathological diagnosis (χ2, p <.01). Regarding the temporal evolution, no statistically significant differences were found in the number of renal biopsies (χ2, p =.193), number of glomeruli per sample (Fisher’s exact test, p =.669), age (Kruskal-Wallis, p =.216), indications for renal biopsy (χ2, p =.106) or major pathological diagnosis groups (χ2,p =.649). However, considering the specific clinico-pathological diagnoses and their temporal variation, a statistically significant difference (Fisher’s exact test, p <.05) was found for lupus nephritis and membranous nephropathy with an increasing incidence and for amyloidosis with an opposite tendency. Discussion: The review of the native kidney biopsies from a population with particular characteristics, geographically isolated, such as those from Madeira Islands, showed parallel between epidemiological numbers referring to other European subpopulations, allowing simultaneously a comprehensive approach to our renal biopsy policies.

Atheroembolic Renal Disease As a Cause of Allograft Primary Non-Function

Atheroembolic renal disease, also referred to as cholesterol crystal embolization, is a rare cause of renal failure, secondary to occlusion of renal arteries, renal arterioles and glomerular capillaries with cholesterol crystals, originating from atheromatous plaques of the aorta and other major arteries. This disease can occur very rarely in kidney allografts in an early or a late clinical form. Renal biopsy seems to be a reliable diagnostic test and cholesterol clefts are the pathognomonic finding. However, the renal biopsy has some limitations as the typical lesion is focal and can be easily missed in a biopsy fragment. The clinical course of these patients varies from complete recovery of the renal function to permanent graft loss. Statins, acetylsalicyclic acid, and corticosteroids have been used to improve the prognosis. We report a case of primary allograft dysfunction caused by an early and massive atheroembolic renal disease. Distinctive histology is presented in several consecutive biopsies. We evaluated all the cases of our Unit and briefly reviewed the literature. Atheroembolic renal disease is a rare cause of allograft primary non -function but may become more prevalent as acceptance of aged donors and recipients for transplantation has become more frequent.

Angioplastia da Artéria Renal

Efectuámos angioplastia transiuminal percutânea (ATP) da artéria renal em 59 doentes hipertensos e houve benefício inicial na tensão arterial em 91,5% e tardio em 79,6%. Obtivemos melhores resultados nas lesões unilaterais (81,4%) do que nas bilaterais (72,7%); nas lesões fora do ostium (82,5%) do que nas do ostium (7 1,4%); nas lesões de origem fibromuscular (88,9%) do que nas de origem aterosclerótica(75%); e nos doentes com idade igual ou inferior a 55 anos (84,8%) do que em doentes com idade superior (71,4%). Estas diferenças não foram contudo significativas. Os bons resultados da ATP da artéria renal na hipertensão renovascular levam-nos a considerar esta forma de intervenção como uma alternativa do seu tratamento.

Insuficiência Cardíaca Numa Criança com Síndroma de Cohen

O Síndroma de Cohen é uma doença autossómica recessiva, descrita pela primeira vez em 1973, tendo sido publicados desde essa altura cerca de 100 casos. O diagnóstico é baseado no quadro clínico e fenótipo típico. Em 1994 o gene para o Síndroma de Cohen foi localizado no cromossoma 8. Os autores apresentam o caso clínico de uma criança com características do Síndroma de Cohen, internado por insuficiência cardíaca sem cardiopatia estrutural.

Disruption of Urate Transport in Familial Renal Glucosuria and Report on SGLT2 Expression in Normal and Pathological Kidney

Familial renal glucosuria (FRG) is a rare co -dominantly inherited benign phenotype characterized by the presence of glucose in the urine. It is caused by mutations in the SLC5A2 gene that encodes SGLT2, a Na+ -glucose co -transporter. The purpose of our current work was twofold: to characterize the molecular and phenotype findings of an FRG cohort and, in addition, to detail the SGLT2 expression in the adult human kidney. The phenotype of FRG pedigrees was evaluated using direct sequencing for the identification of sequence variations in the SLC5A2 gene. The expression of SGLT2 in the adult human kidney was studied by immunofluorescence on kidney biopsy specimens. In the absence of renal biopsies from FRG individuals, and in order to evaluate the potential disruption of SGLT2 expression in a glucosuric nephropathy, we have selected cases of nucleoside analogues induced proximal tubular toxicity. We identified six novel SLC5A2 mutations in six FRG pedigrees and described the occurrence of hyperuricosuria associated with hypouricaemia in the two probands with the most severe phenotypes. Histopathological studies proved that SGLT2 is localized to the brush -border of the proximal tubular epithelia cell and that this normal pattern was found to be disrupted in cases of nucleoside analogues induced tubulopathy. We present six novel SLC5A2 mutations, further contributing to the allelic heterogeneity in FRG, and identified hyperuricosuria and hypouricaemia as part of the FRG phenotype. SGLT2 is localized to the brush -border of the proximal tubule in the adult human normal kidney, and aberrant expression of the co -transporter may underlie the glucosuria seen with the use of nucleoside analogues.

Propylthiouracil Induced Pulmonary-Renal Syndrome: a Case Report.

Propylthiouracil (PTU) is known to induce antineutrophil cytoplasmatic antibody (ANCA) seropositivity; however, small vessel vasculitis (SVV) with pulmonary and renal involvement is rare. We present the case of an 81-year-old woman on PTU treatment due to toxic nodular goitre who developed alveolar hemorrhage and rapidly progressive glomerulonephritis. The authors highlight the importance of early recognising drug-induced pulmonary-renal syndrome (PRS) in order to avoid unnecessary tests, a delay in the diagnosis and evolution to end-stage kidney disease or life-threatening conditions.

Renal Transplantation in HIV-Infected Patients: The First Portuguese Review

INTRODUCTION: With the introduction of combination antiretroviral therapy (cART), prognosis of human immunodeficiency virus (HIV) infection has been improved and kidney transplantation (KT) in HIV-positive patients became possible. METHODS: We reviewed the demographic, clinical, laboratory, and therapeutic data of all the HIV-infected patients who underwent KT between 2009 (first KT in Portugal in a HIV-infected patient) and May 2014. Case accrual was through all Portuguese KT centers where a KT in an HIV-infected patient was performed. Patients were transplanted following the American and Spanish guideline recommendations that included maintenance on cART, undetectable plasma HIV RNA copies, and absolute CD4 counts of ≥ 200 cells/μL in the last 6 months. RESULTS: Fourteen KT were performed on men and 3 on women. The mean age of patients at the time of transplantation was 49.9 ± 11.7 years. HIV status was known for 12 ± 5 years. Eight patients had AIDS in the past and all patients received grafts from deceased donors. Twelve patients (64.7%) underwent induction therapy with basiliximab and 2 patients experienced early graft loss. In 2 patients, humoral rejection was diagnosed and in 3 patients, cellular rejection. Two patients died and an additional patient had early graft loss. CONCLUSION: KT is a possible, but challenging, renal replacement therapy in selected HIV-positive patients. Even in those with AIDS criteria in the past, when the disease is controlled, and after the reconstitution of the immune system with cART, KT can be performed. Nevertheless, the risk-benefit ratio for each patient needs to be taken in consideration.