Fabry disease is an X-linked recessive lysosomal storage disease that is caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. This deficiency results in progressive lysosomal accumulation of glycosphingolipid with particular globotriaosylceramide which accumulates in the heart, kidneys, and the nervous system. The classic Fabry diease affects males, who typically experience an early onset of neuropathic pain, angiokeratoma, and anhydrosis or hypohydrosis. The introduction of enzyme replacement therapy necessitates early awareness of Fabry disease and knowledge of disease- related complications. We experienced a man presenting with acroparesthesia, anhydrosis and proteinuria, who had no residual alpha-galactosidase A activity on leukocytes and mutation analysis demonstrated thiamine deletion at position 1077, exon 7 of GLA gene. He was initially diagnosed as focal segmental glomerulosclerosis without electron microscopic examination three years ago. Now he is being treated with recombinant alpha-galactosidase A via intravenous administration for 1 month.
Administration, Intravenous ; alpha-Galactosidase ; Angiokeratoma ; Enzyme Replacement Therapy ; Exons ; Fabry Disease* ; Glomerulosclerosis, Focal Segmental* ; Heart ; Humans ; Kidney ; Leukocytes ; Lysosomal Storage Diseases ; Male ; Nervous System ; Neuralgia ; Proteinuria ; Thiamine

Today, the duodenal tuberculosis is a very rare disease. Final diagnosis of duodenal tuberculosis is difficult due to inconsistent symptoms and nonspecific duodenal lesions. We found 2 cases of duodenal tuberculosis by gastrascopy. In gastroscopic findings, there were undetermined ulcers and irregular nodular mucosal changes.
Diagnosis ; Rare Diseases ; Tuberculosis* ; Ulcer

We report a case of methicillin-resistant Staphylococcus aureus (MRSA) endocarditis involving tricuspid valve in small ventricular septal defect with multiple pulmonary embolism. A 36-years-old woman presented with 7 days course of fever and mental abnormality. She had small-sized ventricular septal defect (VSD) and no risk factors for the infection such as history of intravenous drug abuse and hospitalization. Methicillin- resistant Staphylococcus aureus was isolated from all three sets of blood culture drawn on admission and from the huge pulmonary embolus retrieved during operation. Resection of pulmonary emboli and patch repair of ventricular septal defect were done. Teicoplanin was administered for a total of 28 days due to febrile rash associated with vancomycin treatment after operation. She was discharged without complication.
Embolism ; Endocarditis* ; Exanthema ; Female ; Fever ; Heart Septal Defects, Ventricular* ; Hospitalization ; Humans ; Methicillin Resistance* ; Methicillin-Resistant Staphylococcus aureus* ; Pulmonary Embolism* ; Risk Factors ; Staphylococcus aureus ; Substance Abuse, Intravenous ; Teicoplanin ; Tricuspid Valve* ; Vancomycin

BACKGROUND AND OBJECTIVES: Immunoglobulin G (IgG) subclass deficiency has been reported in patients with bronchial asthma and is associated with recurrent respiratory tract infections. Aspirin-sensitive asthma (ASA) which affects 10% of adult asthmatics, asthma runs a chronic course with frequent asthma exacerbations, often related to respiratory infections. We performed this study to identify the prevalence of IgG subclass deficiency and evaluate the association between recurrent asthma exacerbations and IgG subclass deficiency in ASA. SUBJECTS AND METHODS: We measured serum levels of IgG and IgG subclass in 26 aspirin- sensitive asthmatic patients (15 steroid used and 11 steroid not used) and 55 healthy controls using nephelometry. Reference values of each IgG subclass was defined as cumulative percentile between 2.5% to 97.5% of controls. RESULTS: Total IgG, IgG1, IgG2 and IgG3 of aspirin-sensitvie asthmatics, were significantly lower than for those of controls (p<0.05, respectively). However, there were no significant differences in total IgG and IgG subclass concentrations, between steroid-not-used asthma group and controls (p>0.05, respectively). CONCLUSION: Lowered levels of IgG, IgG1, IgG2 and IgG3 were noted in ASA sensitive asthma patients, which might be associated with use of steroid. Further studies will be needed to evaluate their clinical significance.
Adult ; Asthma* ; Humans ; Immunoglobulin G* ; Nephelometry and Turbidimetry ; Prevalence ; Reference Values ; Respiratory Tract Infections

Monoclonal gammopathies are associated with a wide range of renal diseases, including cast nephropathy, light chain amyloidosis, monoclonal immunoglobulin deposition diseases, and so on. We describe seven cases of monoclonal gammopathies involving kidney. The mean age was 61.6+/-3.6 years and male to female ratio was 1:1.3. Among 7 patients, diagnoses were cast nephropathy with light chain deposition disease, two light chain deposition diseases, three light chain amyloidosis and light chain deposition disease with light chain amyloidosis. Two cases were monoclonal gammopathy of undetermined significance and three cases were multiple myeloma in five cases underwent bone marrow biopsy. It showed that renal function was severly decreased in light chain deposition disease. It is clear that monoclonal gammopathies show various renal disease and clinical course in our cases. It is necessary to do renal biospy for adequate diagnosis and treatment even to old patients suspecting monoclonal gammopathy.
Amyloidosis ; Biopsy ; Bone Marrow ; Diagnosis ; Female ; Humans ; Immunoglobulins ; Kidney* ; Male ; Monoclonal Gammopathy of Undetermined Significance ; Multiple Myeloma ; Paraproteinemias*

Alendronate sodium (Fosamax(R)) is an aminophosphonate used in treatment of postmenopausal osteoporosis by inhibition of osteoclastic activity. Esophageal ulcers related to alendronate use have been reported at the rate of 2~6%. However, there have been no reports of esophagitis or esophageal ulcer by alendronate in Korea. We present a case of esophageal ulcer caused by alendronate. The patient presented with retrosternal pain and severe odynophagia for a few days. Esophagogastroduodenoscopy revealed multiple deep ulcers at the esophagus. Her symptoms resolved completely after stopping alendronate. A follow-up esophagogastroduodenoscopy 6 weeks later revealed complete healing of the ulcers.
Alendronate* ; Endoscopy, Digestive System ; Esophagitis ; Esophagus ; Female ; Follow-Up Studies ; Humans ; Korea ; Osteoclasts ; Osteoporosis, Postmenopausal ; Ulcer*

Systemic Lupus Erythematosus (SLE) is an autoimmune disease characterized by the overprocuctionofautoantibodiesandthedepositionofimmune complexes in various organs. Unusual case of systemic lupus erythematosus (SLE) associated with minimal change nephrotic syndrome(MCNS) is described. A 30-year-old woman who has been diagnosed as SLE and treated with prednisolone presented symptoms of nephrotic syndrome. Renal biopsy revealed minor glomerular abnormalities without deposition of immune complexes. The initial heavy proteinuria promptly decreased after the prednisolone dosage was increased and disappeared 10 weeks later. She developed proteinuria again 3 years after the initial episode. Repeated renal biopsy revealed membranous nephropathy. T-cell dysfunction, which is present both in SLE and MCNS, might have triggered MCNS during the course of SLE.
Adult ; Antigen-Antibody Complex ; Autoimmune Diseases ; Biopsy ; Female ; Glomerulonephritis, Membranous ; Humans ; Lupus Erythematosus, Systemic* ; Nephrosis, Lipoid* ; Nephrotic Syndrome ; Prednisolone ; Proteinuria ; T-Lymphocytes

Eosinophilic gastroenteritis is an uncommon disease characterized by eosinophilic infiltration in the bowel wall and presents various symptoms depending on the affected site and bowel layer. Pseudomembranous colitis is an antibiotic-associated infection caused by abnormal overgrowth of the toxin-producing Clostridium difficile in the large bowel. A 16-year-old boy was admitted with abdominal pain for 6 days. On admission, we performed an endoscopy and diagnosed gastroduodenitis. Then, we prescribed gastritis medication but he still presented with diffuse abdominal pain and fever above 38.0degrees C after admission. We considered infectious enterocolitis, so we prescribed an antibiotic. The next day, he presented with bloody diarrhea. A diagnosis of pseudomembranous colitis was confirmed by a colonoscopic examination with a biopsy. We also obtained a diagnosis of eosinophilic gastroenteritis through a histological diagnosis. This is the first case of the simultaneous occurrence of eosinophilic gastroenteritis and pseudomembranous colitis in the Korean medical literature. We report this case with a brief review of the literature.
Abdominal Pain ; Adolescent ; Biopsy ; Clostridium ; Clostridium difficile ; Diarrhea ; Endoscopy ; Enteritis ; Enterocolitis ; Enterocolitis, Pseudomembranous ; Eosinophilia ; Eosinophils ; Fever ; Gastritis ; Gastroenteritis ; Humans

Clostridium difficile (C. difficile) is a cytotoxin-producing anaerobic gram-positive rod that is responsible for pseudomembranous colitis (PMC). The incidence of C. difficile is increasing in ulcerative colitis (UC) and inflammatory bowel disease patients and is associated with a more severe course, a longer hospital stay, higher financial costs, a greater likelihood of colectomy, and high mortality. PMC may occur anywhere along the intestinal tract, but it is often found in the distal colon. PMC involving the proximal colon with rectosigmoid sparing is rarely reported in patients with UC. We describe the case of a 35-year-old woman in remission from UC who presented with frequent diarrhea and abdominal pain. She was treated with ciprofloxacin for infectious enterocolitis at a local hospital; however, her symptoms did not improve. A colonoscopy revealed yellow-white plaques with edematous, erythematous from the proximal ascending colon to the cecum, and feces positive for C. difficile toxin. She was treated with metronidazole (500 mg, three times a day) for two weeks, and improved rapidly. Physicians should carefully examine the entire colon via colonoscopy, and perform stool exams for C. difficile in patients with UC who have been treated with antibiotics and in those who develop prolonged diarrhea despite medical treatment.
Abdominal Pain ; Adult ; Anti-Bacterial Agents ; Cecum ; Ciprofloxacin ; Clostridium difficile ; Colectomy ; Colitis, Ulcerative ; Colon ; Colon, Ascending ; Colonoscopy ; Diarrhea ; Enterocolitis ; Enterocolitis, Pseudomembranous ; Feces ; Female ; Humans ; Incidence ; Inflammatory Bowel Diseases ; Length of Stay ; Metronidazole ; Ulcer

Copper sulfate ingestion is a rare cause of corrosive gastrointestinal injury in the Republic of Korea. In developing countries, copper sulfate is chiefly used for agricultural purposes as a pesticide and in the leather industry. It is also used in school science classes in the form of bright blue crystals. Copper sulfate is a powerful oxidizing agent that is corrosive to mucous membranes. Concentrated solutions are acidic, with a pH of 4. We report a case of corrosive gastritis and esophagitis due to accidental copper sulfate ingestion in a 12-year-old boy.
Burns ; Child ; Copper ; Copper Sulfate ; Developing Countries ; Eating ; Esophagitis ; Gastritis ; Humans ; Hydrogen-Ion Concentration ; Mucous Membrane ; Republic of Korea