Il Lupus Eritematoso Sistemico (LES) è una connettivite autoimmune sistemica che coinvolge più frequentemente la cute e il sistema muscolo-scheletrico e articolare. Quadri di LES “grave” all'esordio possono presentarsi con manifestazioni cliniche aspecifiche ed evolvere rapidamente verso l'insufficienza multiorgano. Abbiamo riportato il caso di un paziente affetto da LES sistemico, non precedentemente diagnosticato, esordito con sintomatologia gastrointestinale e iperpiressia. I dati di laboratorio all'ingresso segnalavano insufficienza renale acuta, proteinuria ed emoglobinuria. L'evoluzione rapida e infausta verso l'insufficienza multiorgano e l'exitus (venti giorni) sottolineano l'importanza di riconoscere tempestivamente segni clinici e di laboratorio suggestivi per LES “grave”, in modo da avviare il più precocemente possibile una terapia immunosoppressiva specifica.
Pseudoxantoma elasticum (PXE) is an autosomal recessive disease caused by mutations in the ABCC6 gene. It is characterized by elastic fiber mineralization and fragmentation of connective tissue mostly within the dermis of the skin, Bruch's membrane of the retina, and the mid layers of the arterial blood vessels. Rarely, multiple calcifications have also been reported in PXE patients’ kidneys.
We here report the case of a 40-year-old man who came to our observation for microhematuria, proteinuria, and multiple calcifications in the kidneys detected by ultrasound examination, in the absence of PXE skin lesions. Fundoscopic examination was positive for angioid streaks, and the genetic test confirmed ABCC6 mutation. Fundoscopy can thus be useful for excluding the diagnosis of PXE in patients with isolated multiple calcifications of the kidneys.
The authors report the case of a 51-year-old man with a 1-month history of mild gastroenteritic symptoms, daily fever and malaise. The patient was febrile (38.5°C) and laboratory data showed renal failure (creatinine 2.5 mg/dL), proteinuria and hemoglobinuria. A 10-day antibiotic therapy was started since an infective gastrointestinal process was initially suspected. When autoimmune immunologic patterns, associated with renal, neurologic and hematologic signs, confirmed the diagnosis of systemic lupus erythematous the patient was infused with high-dose intravenous corticosteroids. Despite the treatment, the patient developed rhabdomyolysis, acute pancreatitis, worsening of renal function (creatinine 5.5 mg/dL) to oliguria, and marked cognitive impairment. Our case focuses on the importance of an early recognition of laboratory and anamnestic data that may suggest a systemic autoimmune involvement, so as to rapidly undertake an aggressive immunosuppressive therapy.
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