RESUMEN
Atypical haemolytic uraemic syndrome (aHUS) is a severe, life-threatening condition that requires early recognition and urgent treatment. In aHUS rare genetic variants in CFH, CFI, CD46, C3 and CFB predispose to complement over activation. This case describes a case of aHUS in which there was a strong temporal association between disease onset and the use of smoked cocaine. The patient was found to have a rare genetic variant in the CFI gene which may have been unmasked by first-time exposure to cocaine. The patient stabilized and improved with early administration of eculizumab, supporting the notion of an underlying immunological pathogenesis and the importance of early intervention.
Asunto(s)
Anticuerpos Monoclonales Humanizados/administración & dosificación , Síndrome Hemolítico Urémico Atípico , Fumar Cocaína , Factor I de Complemento/genética , Insuficiencia Renal , Trombocitopenia , Síndrome Hemolítico Urémico Atípico/genética , Síndrome Hemolítico Urémico Atípico/fisiopatología , Síndrome Hemolítico Urémico Atípico/terapia , Biopsia/métodos , Fumar Cocaína/efectos adversos , Fumar Cocaína/prevención & control , Humanos , Riñón/patología , Riñón/fisiopatología , Pruebas de Función Renal/métodos , Masculino , Persona de Mediana Edad , Mutación , Pronóstico , Diálisis Renal/métodos , Insuficiencia Renal/diagnóstico , Insuficiencia Renal/terapia , Trombocitopenia/diagnóstico , Trombocitopenia/etiología , Trombocitopenia/terapia , Microangiopatías Trombóticas/etiología , Microangiopatías Trombóticas/patología , Resultado del TratamientoRESUMEN
BACKGROUND: Secondary hyperparathyroidism (SHPT) in chronic kidney disease is associated with cardiovascular and bone pathology. Measures to achieve parathyroid hormone (PTH) target values and control biochemical abnormalities associated with SHPT require complex therapies, and severe SHPT often requires parathyroidectomy or the calcimimetic cinacalcet. In Australia, cinacalcet was publicly funded for dialysis patients from 2009 to 2015 when funding was withdrawn following publication of the EVOLVE study, which resulted in most patients on cinacalcet ceasing therapy. We examined the clinical and biochemical outcomes associated with this change at Australian renal centres. AIM: To assess changes to biochemical and clinical outcomes in dialysis patients following cessation of cinacalcet. METHODS: We conducted a retrospective study of dialysis patients who ceased cinacalcet after August 2015 in 11 Australian units. Clinical outcomes and changes in biochemical parameters were assessed over a 24- and 12-month period, respectively, from cessation of cinacalcet. RESULTS: A total of 228 patients was included (17.7% of all dialysis patients from the units). Patients were aged 63 ± 15 years with 182 patients on haemodialysis and 46 on peritoneal dialysis. Over 24 months following cessation of cinacalcet, we observed 26 parathyroidectomies, 3 episodes of calciphylaxis, 8 fractures and 50 deaths. Eight patients recommenced cinacalcet, meeting criteria under a special access scheme. Biochemical changes from baseline to 12 months after cessation included increased levels of serum PTH from 54 (interquartile range 27-90) pmol/L to 85 (interquartile range 41-139) pmol/L (P < 0.0001), serum calcium from 2.3 ± 0.2 mmol/L to 2.5 ± 0.1 mmol/L (P < 0.0001) and alkaline phosphatase from 123 (92-176) IU/L to 143 (102-197) IU/L (P < 0.0001). CONCLUSION: Significant increases in serum PTH, calcium and alkaline phosphatase occurred over a 12-month period following withdrawal of cinacalcet. Longer-term follow up will determine if these biochemical and therapeutic changes are associated with altered rates of parathyroidectomies and cardiovascular mortality and morbidity.
Asunto(s)
Calcimiméticos/administración & dosificación , Cinacalcet/administración & dosificación , Hiperparatiroidismo Secundario/sangre , Fallo Renal Crónico/terapia , Diálisis Renal/tendencias , Privación de Tratamiento/tendencias , Anciano , Fosfatasa Alcalina/sangre , Australia , Biomarcadores/sangre , Calcio/sangre , Femenino , Estudios de Seguimiento , Humanos , Hiperparatiroidismo Secundario/diagnóstico , Hiperparatiroidismo Secundario/terapia , Fallo Renal Crónico/complicaciones , Masculino , Persona de Mediana Edad , Hormona Paratiroidea/sangre , Paratiroidectomía , Diálisis Renal/efectos adversos , Estudios RetrospectivosRESUMEN
AIMS: Acute thrombosis of hemodialysis (HD) arteriovenous access is an urgent problem for HD patients and is commonly managed by endovascular thrombolysis. Pulmonary embolism (PE) is a recognized complication of HD access thrombosis and thrombolysis but the risk and outcomes are unclear. This study aims to determine the incidence, predictors, and outcomes of PE after endovascular thrombolysis of HD arteriovenous access in patients presenting with acute thrombosis. MATERIALS AND METHODS: A single-center retrospective study was performed for all adult chronic kidney disease patients undergoing arteriovenous access thrombolysis between January 1, 2012, and December 31, 2014. Investigation for PE with CT pulmonary angiography or ventilation/perfusion scintigraphy (V/Q scan) was performed as clinically directed by the managing clinicians. In cases diagnosed with PE, the pulmonary embolism severity index (PESI) was calculated. RESULTS: A total of 48 (median age 68) patients underwent 74 thrombolysis procedures. Thrombolysis techniques were divided into pharmacological (44.6%), mechanical (17.6%), or pharmacomechanical (37.8%). Clinical success was achieved in 56/74 (75.7%) of procedures. Five episodes of thrombolysis for access thrombosis (6.8%) were associated with clinically symptomatic PE. The PESI score ranged from 51 to 127. All patients with PE were managed with 3 - 6 months of anticoagulation and recovered clinically. There were no statistically significant differences in baseline characteristics, methods of thrombolysis, or clot burden in patients that developed a PE. CONCLUSION: There is a clinically significant risk of symptomatic PE after arteriovenous access thrombolysis for access thrombosis in HD patients.â©.