X-linked sideroblastic anemia (XLSA) is due to deficient activity of erythroidspecific 5-aminolevulinate synthase (ALAS2). We report here a patient who developed sideroblastic anemia at the age of 81 years while undergoing hemodialysis. The diagnosis of sideroblastic anemia was established by the presence of ringed sideroblasts in the bone marrow, and treatment with oral pyridoxine completely eliminated the ringed sideroblasts. We identified a novel point mutation in the fifth exon of this patient's ALAS2 gene, which resulted in an amino acid change at residue 159 from aspartic acid to asparagine (Asp159Asn IntroductionX-linked sideroblastic anemia (XLSA) is an X-linked recessive hypochromic, microcytic anemia with ringed sideroblasts in the bone marrow, resulting from the deficient activity of erythroidspecific 5-aminolevulinate synthase (ALAS2, or ALAS-E; EC 2.3.1.37). XLSA typically presents by the fourth decade of life, however, there are rare cases that may manifest later in life. Late-onset XLSA merits special mention not only because it is extremely rare (only 3 cases have been reported), but also because there has been no direct evidence that the mutations of ALAS2 resulted in the disease. [1][2][3] In this study, we report a patient with late-onset XLSA who developed the disease following hemodialysis. The diagnosis was confirmed by molecular analysis of the ALAS2 gene. Study design Case reportAn 81-year-old male patient was admitted to Kyoto Minute-I-Ren Central Hospital in September 2000, with the diagnosis of chronic renal failure and sideroblastic anemia. Prior to admission, he had been treated with hemodialysis for 2 1/2 years. Erythropoietin was administered (3000 U subcutaneously 3 times weekly), yet he remained anemic (red blood cell , 4.6 ϫ 10 9 /L) with an increased red cell distribution width of 19.8% (normal, 11.6%-15.0%). The peripheral blood smear revealed both normocytic and microcytic erythrocyte populations. The MCV dropped to 82.4 fL before additional packed red cell transfusions were administered. A bone marrow examination revealed a hypocellular marrow with a normal myeloid-erythroid ratio. Prussian blue staining of bone marrow cells revealed the presence of numerous ringed sideroblasts (49% of the erythroblasts). The serum ferritin concentration was elevated at 797 g/L. A myelodysplastic syndrome was suspected, namely refractory anemia with ringed sideroblasts (RARS) and additional packed red cell transfusions were administered. A serum pyridoxal level was less than 2.0 ng/mL (normal, 6.0-40.0 ng/mL) and oral pyridoxine (200 mg/d) was started. After 2 weeks of pyridoxine therapy, the anemia stabilized and no further transfusions were required. The bone marrow examination was repeated and ringed sideroblasts were no longer evident. Hemoglobin levels were maintained at or higher than 70 g/L with continued pyridoxine treatment, but the patient died of aspiration pneumonia in November 2000. Identification of an ALAS2 mutationAn autopsy sample of the patient's liver, which had been stor...
BackgroundActinomycosis is a chronic, slowly progressive infection caused by the Actinomyces species. Lumbar vertebral involvement of Actinomyces israelii is extremely rare; this is the first case report of lumbar vertebral osteomyelitis and psoas abscess caused by Actinomyces israelii after an operation under general anesthesia.Case presentationA 66-year-old Japanese man with end-stage renal disease was admitted to our hospital for an operation for cervical canal stenosis. After the operation under general anesthesia, during which tracheal intubation and nasogastric tube insertion were performed, he developed low back pain. During a second hospitalization, computed tomography revealed osteolysis of the lumbar endplates of L2 and L3, swelling of the intervertebral disk of L2/L3, and swelling of the left psoas major muscle. Percutaneous drainage of the intervertebral disc was performed, and the culture of the aspirate grew Actinomyces israelii. Based on the susceptibility, ampicillin was administered but his condition did not improve. We changed the antibiotics to ampicillin-sulbactam for coverage of unidentified oral commensals, and his symptoms and signs finally improved.ConclusionOur patient’s long-term end-stage renal disease had made the oral and gastrointestinal mucosal barriers very fragile. Under these conditions, even mildly invasive procedures such as tracheal intubation and nasogastric tube insertion could be the cause of infectious complication by oral commensals, including Actinomyces.
Splenic hemorrhage is a potentially life-threatening complication usually occurring after blunt trauma to the abdomen. Atraumatic splenic rupture (ASR) is an uncommon condition, and mostly results from pathology affecting the spleen, such as tumor infiltration or infection. Here, we report a case of atraumatic rupture of a normal spleen in a patient undergoing peritoneal dialysis, and review similar cases in the literature. The case involved a 58-year-old man with nephrotic syndrome who had been undergoing peritoneal dialysis for 1 year. He presented to the hospital with abdominal pain, nausea, and blood-stained dialysate. Laboratory data revealed severe anemia, with a hemoglobin of 4.3 g/dL. An abdominal computed tomography (CT) scan demonstrated a high-density area around the spleen and malposition of the catheter. Laparoscopy revealed large amounts of coagulated blood surrounding the spleen. The patient was diagnosed with atraumatic splenic bleeding. He improved with bed rest and blood transfusion, and could continue with peritoneal dialysis. It was considered that the etiology of bleeding was directly from the spleen. However, due to the temporary malposition of the peritoneal catheter, catheter-induced splenic trauma could not be ruled out. ASR is a rare entity that needs a high index of suspicion for diagnosis. Using CT scanning and peritoneal fluid analysis, these modalities may assist in the diagnosis. Emergency intervention is required upon definitive diagnosis. Increased awareness of ASR can enhance the early diagnosis and effective treatment.
A 45-year-old male had proteinuria for 3 years. For persistent proteinuria over 2 g/day, he underwent renal biopsy. Light microscopy revealed focal segmental glomerulosclerosis together with diffuse capillary wall thickening. Periodic acid methenamine silver (PAM) staining showed a prominent bubbly appearance without spike formation could be found in almost all capillary walls. Electron microscopy revealed many microspheres measuring 50-70 nm in diameter distributed in diffuse and global fashion together with the thickened glomerular basement membrane. A few cytoplasmic processes of the podocytes showed infolding to the GBM. The patient exhibited no symptoms and no physical and serological findings suggesting autoimmune disease, such as systemic lupus erythematosus or Sjögren's syndrome. Therefore, the present case is important, because the peculiar microstructure in the GBM was noted in focal segmental glomerulosclerosis, which has never been reported in the literature.
We report a case of idiopathic nodular glomerulosclerosis (ING) mimicking diabetic Kimmelstiel-Wilson glomerulopathy. A 72-year-old man suffering from nephritic syndrome and renal dysfunction had no prior history of diabetes mellitus, but had impaired glucose tolerance and a history of hypertension and smoking. A kidney biopsy showed increased mesangial matrix with Kimmelstiel-Wilson-like nodules, glomerular basement membrane thickening and capillary microaneurysms. Additionally, a large amount of fibrin caps detectable as electron-dense subendothelial material by electron microscopy were observed. Although ING with fibrin caps has been rarely reported, the large number of fibrin caps seen in this case may be due to the advanced clinical stage.
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