ABSTRACT
INTRODUCTION: The porphyria diseases are inherited and may be exacerbated by environmental triggers. The most common symptoms are abdominal pain, constitutional symptoms, and mental symptoms. The diagnosis of acute intermittent porphyria is usually made during an attack. The initial diagnosis of porphyria is made with the help of biochemical tests in the blood, urine and feces. The best diagnostic approach for carriers of the genes for porphyria, regardless of the manifestation of symptoms, is a molecular test of the genetic mutations, according to which the porphyria can be divided into different types.
Subject(s)
Porphyria, Acute Intermittent , Abdominal Pain/diagnosis , Abdominal Pain/etiology , Humans , Mutation , Porphyria, Acute Intermittent/diagnosis , SeizuresSubject(s)
Community-Acquired Infections/complications , Pneumonia, Bacterial/complications , Shock, Septic/diagnosis , Adult , Community-Acquired Infections/microbiology , Female , Humans , Pneumonia, Bacterial/microbiology , Shock, Septic/microbiology , Streptococcus pyogenes/isolation & purification , Time FactorsABSTRACT
Type I cryoglobulinemia is associated with B cell proliferative diseases, whereas essential mixed cryoglobulinemia is classically associated with infections, malignancy, and autoimmune diseases, but may be idiopathic. Prognosis in patients with grave manifestations and renal involvement is often poor. We report a case of a 40-year-old woman, 2 weeks post-partum for pre-eclampsia who was hospitalized with nephritic syndrome and acute renal failure. The patient harbored type I and type II cryoglobulinemia. Renal and cutaneous biopsies confirmed the diagnosis; however, an underlying etiology was not established. A bone marrow biopsy suggested monoclonal gammopathy of undetermined source (MGUS). Despite therapy with intravenous cyclophosphamide, rituximab, plasmapheresis, dialysis, and bortezomib, the patient succumbed after 8 months of hospitalization. We suggest that an overlap entity of types I and II cryoglobulinemia with severe multi-organ involvement not only is rare but also may be resistant to conventional therapy and fatal.
Subject(s)
Cryoglobulinemia/complications , Cryoglobulinemia/therapy , Monoclonal Gammopathy of Undetermined Significance/complications , Monoclonal Gammopathy of Undetermined Significance/therapy , Adult , Cyclophosphamide , Dialysis , Fatal Outcome , Female , Humans , Immunoglobulin kappa-Chains/analysis , Kidney/pathology , Plasmapheresis , Rituximab , Skin/pathologyABSTRACT
Systemic Lupus erythematosus often involves the kidney. Classification created by the World Health Organization (I-V) grades patients with lupus nephritis, as diagnosed by renal biopsy and those with high grade nephritis (III and above) for treatment in order to preserve renal survival. Today the accepted treatment includes combination of steroids and cycLophosphamide. Mycophenolate mofetil (MMF, Cellcept), is an immunosuppressive agent that inhibits the purine de novo synthesis pathway. Mycophenotate mofetil mainly inhibits the proliferation of Lymphocytes and is commonly used for rejection prevention after solid organ transplantations. Three meta-analyses were performed with several hundred patients in each. ALL meta-analyses showed, with statistical significance (p < 0.05), an advantage in remission rates for MMF with a relative risk (RR) of 1.5 to 3.0. All meta-anaLyses reported statisticaLLy significant Lower rates of infectious complications (RR between 0.65 to 0.5) and amenorrhea was seen with a lower rate in all meta-analyses, although it was statically significant only in one. Treatment with MMF is associated with increased rates of gastrointestinal side effects, although only one meta-analysis showed this in a statisticaLly significant manner.