Etanercept in the treatment of ankylosing spondylitis and nephrotic syndrome in the context of AA amyloidosis: A 48-month follow-up / Etanercept en el tratamiento de la espondilitis anquilosante y el síndrome nefrótico en el contexto de la amiloidosis aa: un seguimiento de 48 meses

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Acquired perforating dermatosis with associated complicated cellulitis and amputation in a hemodialysis patient.

INTRODUCTION: Cutaneous manifestations related to chronic kidney disease (CKD) are common and associated with high morbidity. Acquired perforating dermatosis (APD) occurs mostly in diabetic or CKD patients, namely those undergoing hemodialysis. CASE REPORT: A 58-year-old male with type 2 diabetes, with long-term insulin use, several microvascular and macrovascular complications, and on maintenance hemodialysis for 5 years presented with a 1-week history of painful, pruritic, umbilicated papules and some punctiform necrotic lesions on his left forearm, both hands, and both amputation stumps. There was no evidence of infection or vascular alterations, and the patient was not responsive to an initial course of topical corticosteroid. These lesions rapidly evolved to larger, coalescent necrotic injuries, with aggravated pain, intense left-hand skin peeling, and the appearance of similar lesions in the trunk, requiring hospital admission. Calciphylaxis and APD were suspected. Skin biopsy was performed and directed treatment initiated, including intradialytic sodium thiosulfate. Histology findings were compatible with APD and also excluded findings suggestive of vasculitis or calciphylaxis. Soon after, difficult-to-treat cellulitis of the left hand and forearm progressed to critical ischemia and amputation. Microbiology analysis revealed Serratia marcescens as the causative agent. DISCUSSION: To our knowledge, there are no previously described cases of APD-related cellulitis. Its treatment can be particularly challenging, as lesions can persist and relapse, and chronic scars can develop. S. marcescens behaves as an opportunistic and difficult-to-treat pathogen, complicating the prognosis. CONCLUSION: APD can be associated with cellulitis and all of its complications in patients with underlying severe vasculopathy. Awareness of this complication in APD with early referral and aggressive treatment might improve the outcomes and quality of life of such patients.

Persistent exit-site infection in peritoneal dialysis - An unrecognized window to abdominal viscera.

Exit-site (ES) infection is a common complication in peritoneal dialysis (PD). Pseudomonas spp. is particularly difficult to treat, and catheter removal should be considered in persistent infections. The authors present a chronic ES infection resistant to directed antibiotic therapy in which catheter salvage was not possible. Removal was very difficult due to the presence of white sponge-like tissue with petrous consistency surrounding the catheter, all the way into the peritoneum. Histology revealed well-differentiated adenocarcinoma infiltrates. Abdominal computed tomography scan revealed a solid pancreatic (tail) lesion, nodular images on the greater epiploon, an adnexal lesion and a hepatic solid lesion, consistent with metastasis. The patient was referred for palliative care but maintained PD until untreatable pain and deterioration of general status aroused. Somewhere along the course of a chronic ES infection, the peritoneal catheter (and inflammation) was the metastatic path of an unknown pancreatic cancer, with neoplastic tissue reaching the skin. Catheter removal was crucial for diagnosis.

Gaucher disease and Lupus: A rare association? / Gaucher y lupus: ¿una rara asociación?

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Overhydration prevalence in peritoneal dialysis - A 2 year longitudinal analysis.

BACKGROUND AND OBJECTIVES: Hypervolemia is a major concern in dialysis patients, and is associated with increased cardiovascular risk and death. Cross sectional analysis have previously demonstrated that peritoneal dialysis (PD) patients are not more overhydrated when compared to haemodialysis ones. This study was designed to evaluate longitudinal trends in hydration status and corporal composition in a PD population. METHODS: We conducted a 2 year prospective observational study of 58 PD patients from a single centre. Incident and prevalent patients were included. Yearly measurements were performed using multifrequency electric bioimpedance. Overhydration (OH) was defined as an extra-cellular water (ECW)/total body water (TBW) over 15%. Clinical and biochemical variables were also explored. RESULTS: A total of 30 patients completed evaluation (female 63.3%, mean age 56.9 years, BMI 25.0 kg/m², diabetes 10.0%, APD-50.0%). Median PD vintage was 21.9 months, and 36.7% were anuric. At baseline 6.7% were overhydrated. On longitudinal analysis no significant changes were found in hydration status, systolic blood pressure, pro-BNP, nor albumin levels. Similar results were found among incident (n=11; APD- 45.5%; anuric- 9.1%) and prevalent (n=19; APD- 52.6%; anuric- 52.6%) patients (p>.05). However, at the second year, prevalent patients were moderately overhydrated compared to incident ones (median 10.2% vs 3.5%; p=.009). Nonetheless, no statistical difference was observed considering adequacy, TBW, or ECW. Moreover, nutritional parameters remained stable. CONCLUSIONS: Peritoneal dialysis maintenance without increasing volume status, nor major deleterious corporal composition trends, is feasible under careful therapy strategies. Longitudinal application of BIA may be a useful clinical tool to evaluate adequacy beyond Kt/V.

Overhydration prevalence in peritoneal dialysis –A 2 year longitudinal analysis / Prevalencia de la sobrehidratación en la diálisis peritoneal: estudio longitudinal de 2 años

Background and objectives: Hypervolemia is a major concern in dialysis patients, and is associated with increased cardiovascular risk and death. Cross sectional analysis have previously demonstrated that peritoneal dialysis (PD) patients are not more overhydrated when compared to haemodialysis´ ones. This study was designed to evaluate longitudinal trends in hydration status and corporal composition in a PD population. Methods: We conducted a 2 year prospective observational study of 58 PD patients from a single centre. Incident and prevalent patients were included. Yearly measurements were performed using multifrequency electric bioimpedance. Overhydration (OH) was defined as an extra-cellular water (ECW)/total body water (TBW) over 15%. Clinical and biochemical variables were also explored. Results: A total of 30 patients completed evaluation (female 63.3%, mean age 56.9 years, BMI25.0 kg/m2, diabetes 10.0%, APD-50.0%). Median PD vintage was 21.9 months, and 36.7% were anuric. At baseline 6.7% were overhydrated. On longitudinal analysis no significant changes were found in hydration status, systolic blood pressure, pro-BNP, nor albumin levels. Similar results were found among incident (n=11; APD-45.5%; anuric- 9.1%) and prevalent (n=19; APD- 52.6%; anuric- 52.6%) patients (p>.05). However, at the second year, prevalent patients were moderately overhydrated compared to incidentones (median 10.2% vs 3.5%; p=.009). Nonetheless, no statistical difference was observed considering adequacy, TBW, or ECW. Moreover, nutritional parameters remained stable. Conclusions: Peritoneal dialysis maintenance without increasing volume status, nor major deleterious corporal composition trends, is feasible under careful therapy strategies. Longitudinal application of BIA may be a useful clinical tool to evaluate adequacy beyond Kt/V (AU)

Antecedentes y objetivos: La hipervolemia constituye un gran problema en los pacientes de diálisis, y se asocia a un incremento del riesgo cardiovascular y muerte. Los análisis transversales han demostrado previamente que los pacientes de diálisis peritoneal (DP) no sufren de sobrehidratación, en comparación a los pacientes de hemodiálisis. Este estudio fue diseñado para evaluar las tendencias longitudinales de composición corporal e hidratación en una población de pacientes de DP. Métodos: Realizamos un estudio observacional prospectivo de dos años a 58 pacientes de DP de un único centro. Se incluyó pacientes incidentales y prevalentes. Se realizaron mediciones anuales utilizando bioimpedancia eléctrica de multifrecuencia. La sobrehidratación se definió como el ratio agua extra-celular (ECW)/agua corporal total (ACT) superior al 15%. También se exploraron variables clínicas y bioquímicas. Resultados: Un total de 30 pacientes completarán el estudio (mujeres: 63,3%, edad media 56,9años, IMC 25,0 kg/m2, diabetes 10,0%, DPA-50,0%). La antigüedad media de DP fue de 21,9meses, y el 36,7% padecía anuria. Al inicio, el 6,7% padecía sobrehidratación. En los análisis longitudinales no se hallaron cambios en cuanto a hidratación, presión sanguínea sistólica, pro-BNP, o niveles de albúmina. Se hallaron resultados similares entre los pacientes incidentales (n = 11; APD- 45,5%; anuria- 9,1%) y prevalentes (n = 19; DPA- 52,6%;anuria- 52,6%) (p > 0,05). Sin embargo, al segundo año, los pacientes prevalentes estaban moderadamente sobrehidratados en comparación con los incidentales (media 10,2% frente a3,5%; p = 0,009). En cambio, no se observó una diferencia estadística en cuanto a adecuación, ACT, o ECW. Además, los parámetros nutricionales permanecieron estables. Conclusiones: La a prevalencia de la diálisis peritoneal sin incremento de volumen ni alteración de los índices de composición corporal es factible si se aplican estrategias terapéuticas prudentes. La aplicación longitudinal de BIA puede constituir una herramienta clínica para evaluar la adecuación por encima de Kt/V (AU)

Impact of chronic kidney disease on the natural history of alkaptonuria.

In alkaptonuria, deficiency of homogentisate 1,2-dioxygenase leads to the accumulation of homogentisic acid (HGA) and its metabolites in the body, resulting in ochronosis. Reports of patients with alkaptonuria who have decreased kidney function are rare, but this seems to play an important role in the natural history of the disease. We describe a 68-year-old female with chronic kidney disease (CKD) of unknown etiology who started peritoneal dialysis (PD) after 5 years of follow-up and who was diagnosed with alkaptonuria at this time. Progressive exacerbation of ochronotic manifestations had been noted during these last few years, as kidney function worsened. After PD initiation, the disease continued to progress, and death occurred after one year and a half, due to severe aortic stenosis-related complications. Her 70-year-old sister was evaluated and also diagnosed with alkaptonuria. She had no renal dysfunction. Higher HGA excretion and significantly milder ochronosis than that of her sister were found. We present two alkaptonuric sisters with similar comorbidities except for the presence of CKD, who turned out to have totally different evolutions of their disease. This report confirms that kidney dysfunction may be an important factor in determining the natural history of alkaptonuria.

[Description of a new mutation in a female patient with Fabry disease]. / Mutação de novo causadora de doença de Fabry em paciente do sexo feminino.

Fabry disease is caused by intracellular accumulation of glycosphingolipids in various tissues, secondary to mutations in the GLA gene (Xq22). Classically described as affecting hemizygous males with no residual alpha-galactosidase A activity, it is now known to affect both sexes, with later and less severe manifestations in females. The manifestations of this disease are systemic: neurological, cutaneous (angiokeratomas), renal, cardiovascular (left ventricular hypertrophy, valve thickening or rhythm disturbances), cochlear-vestibular, and cerebrovascular. In the absence of treatment there is progressive damage to vital organs with renal failure, stroke, heart failure or rhythm perturbations, leading to severe impairment of quality of life as well as reduced life expectancy. We describe the case of a female patient with a history of cryptogenic ischemic stroke at the age of 38 years and chronic renal failure with proteinuria, who presented to the emergency room with atrial fibrillation. The echocardiogram revealed concentric left ventricular hypertrophy, diastolic dysfunction and decreased longitudinal strain in the basal septum. In the context of a screening protocol, she was diagnosed with Fabry disease and a previously undescribed mutation was identified.

Atheroembolic renal disease with rapid progression and fatal outcome.

Atheroembolic renal disease is caused by foreign-body reaction to cholesterol crystals flushed from the atherosclerotic plaques into the small-vessel system of the kidneys. It is an underdiagnosed entity, mostly related to vascular procedures and/or anticoagulation, and prognosis is considered to be poor. Besides the benefit of aggressive medical prevention of further embolic events, use of steroid therapy has been associated with greater survival. Here we report a case of a patient with a multisystemic presentation of the disease days after performance of percutaneous coronary intervention and anticoagulation initiation due to an episode of myocardial infarction. Renal, cutaneous, ophthalmic, neurological, and possibly muscular and mesenteric involvement was diagnosed. Although medical treatment with corticosteroids and avoidance of further anticoagulation was applied, the patient rapidly progressed to end-stage renal disease requiring hemodialysis and died 6 months after diagnosis. This is a case of catastrophic progression of the disease resistant to therapeutic measures. Focus on diagnosis and more efficient preventive and therapeutic protocols are therefore needed.

[Thymus hyperplasia in a patient with antiphospholipid syndrome]. / Hiperplasia do timo em doente com síndrome antifosfolipídico.

Thymus is an important central lymphoid organ that plays a pivotal role in the generation of peripheral T-lymphocytes. Thymoma and thymus hyperplasia have been associated with various autoimmune disorders, mainly myasthenia gravis. There is no established relationship between thymus pathology and antiphospholipid syndrome; however, there are some reported cases of antiphospholipid syndrome associated with myasthenia gravis or following thymectomy. We present the case of a patient with antiphospholipid syndrome and thymic lymphoid follicular hyperplasia. We discuss the association between both entities and suggest a diagnostic approach of a patient with a radiological disorder of the thymus and antiphospholipid syndrome.