A Case of Fabry Disease, Pathologically Revealed as Focal Segmental Glomerulosclerosis / 대한신장학회지

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.

Clinical Study on Prognostic Markers in IgA Nephropathy / 대한신장학회잡지

BACKGROUND: IgA nephropathy is the most common type of glomerulonephritis to progress to the end-stage renal disease. The variable course and long natural history of the disease make it difficult to predict prognosis. The aim of the present study was to search for significant predictive factors at the time of biopsy. METHODS: Authors investigated the association between prognosis of IgA nephropathy and clinical (age, sex, hypertension, compliance), laboratory (serum creatinine and uric acid, proteinuria, selective proteinuria index, IgA/C3 ratio), and histologic findings at the time of biopsy from 50 patients who were biopsy-proven IgA nephropathy and followed for more than 5 years at our hospital. Two outcomes were analysed. The first, only 46 cases (initial GFR > or =60) were divided into two groups:group 1 (last GFR > or =60 mL/min), group 2 ( or =30% and GFR <90 mL/min). RESULTS: Risk factors for chronic renal failure by multivariate analysis (Cox proportional hazards model) were compliance. And histopathologic classification as Haas has predictive value for rapid deterioration of GFR (p<0.005). CONCLUSION: Compliance may be predictors for renal survival in the patients with IgA nephropathy by multivariate analysis. Histopathologic classification as Haas was related with rapid reduction of renal function. And hyperuricemia seems to be related with prognosis of IgA nephropathy. But these outcome may need further evaluation by long-term and large cohort study.

Clinical characteristics of rapidly progressive glomerulonephritis / 대한내과학회지

BACKGROUND: Rapidly progressive glomerulonephritis (RPGN) is microscopically characterized by formation of crescents in more than 50% of glomeruli observed. The patients usually move on rapidly to renal failure and the prognosis is not favorable. But there was only a few study because of the rarity in incidence. METHODS: We reviewed and analyzed the records of 15 patients diagnosed as crescentic glomerulonephritis (CrGN) by renal biopsy from March 1990 to December 2003. RESULTS: Fifteen out of 1055 biopsy cases were CrGN including 6 (40%) of pauci-immune glomerulonephritis (PIGN) and 9 (60%) of immune complex glomerulonephritis (ICGN). Underlying diseases of PIGN were: unknown 2, Wegener's granulomatosis 2, focal segmental glomerulosclerosis 1, and rectal cancer 1. For ICGN were: IgA nephropathy 3, lupus nephritis class IV 3, Henoch-Schonlein purpura 2, and HBV-associtated membranoproliferative glomerulonephritis type I. The incidence of major manifestation in PIGN vs. ICGN was respectively: hypertension 50% vs. 22.2%, nephrotic syndrome 50% vs. 88.9%, percents of crescents 73.9% vs. 57.3%. The levels of BUN (mg/dL) and serum creatinine (mg/dL) were higher in PIGN as 76.8 +/- 14.3 and 6.6 +/- 1.2 vs. 26.9 +/- 8.9 and 1.6 +/- 0.3 in ICGN. With methylprednisolone pulse, 5 out of 7 patients showed some improvement in their renal function. A case of Wegener's granulomatosis taken oral prednisolone and another case of lupus nephritis given cyclophosphamide pulse also had relatively favorable course. At the end of follow-up, the more crescents they had the higher creatinine level (r=0.711, p<0.01). CONCLUSION: RPGN manifested nephrotic syndrome commonly and many of them progressed to the chronic kidney disease or even developed end stage renal disease. But appropriate immunosuppre- ssive treatment could help to preserve renal function. When considering the proportion of crescentic glomeruli, it was related to the worse prognosis. It is necessary to make an effort to diagnose early and treat vigorously.

A case of mycoplasma pneumonia associated with pulmonary and bronchial eosinophilia / 천식및알레르기

Epidemiologic evidences suggest a close linking exist between Mycoplasma infection and asthma exacerbation, and possibly as a factor in the pathogenesis of asthma. However, little is known about the pathogenetic mechanism of respiratory M. pneumonia infection on airway inflammation. We report a case of mycoplasma pneumonia associated with pulmonary and bronchial eosinophilia. A 25-year-old man developed fever, coughing and dyspnea for 5 days prior to the admission. Initial chest x-ray showed bilateral interstitial or nodular infiltration and right pleural effusion. In High-resolution chest CT, demonstrated bilateral interstitial thickening with perivascular blurring. Pulmonary function test showed mild restrictive ventilatory pattern. Differential cell count in induced sputum showed marked eosinophilia(70% of non-squamous cells). Furthermore, bronchoalveolar lavage fluid analysis showed excessive eosinophils(39%). Mycoplasmal antibody was detected in patient's serum in titer of 1 to 160 by indirect hemagglutination method. Methacholine PC20 was 11.4 mg/ml. After treatment with macrolide antibiotics only, patient's subjective symptoms, abnormalities in chest x-ray film and bronchial hyperreactivity were disappeared.

A Case of Hypertrophic Osteoarthropathy Associated with Nasopharyngeal Carcinoma in a Child

Hypertrophic osteoarthropathy is characterized by clubbing of the digital tips and periosteal reaction of long bones. Most of the cases are associated with malignancy or other conditions such as congenital heart disease, liver cirrhosis, pulmonary fibrosis, biliary atresia, and gastrointestinal polyps. Hypertrophic osteoarthropathy associated with malignancy is rare in children. A few cases of hypertrophic osteoarthropathy in children with nasopharyngeal carcinoma have been reported, however, there has been no report of such case in Korea. We present a case of hypertrophic osteoarthropathy associated with nasopharyngeal carcinoma with lung metastasis in a 14-yr-old boy. In this case, hypertrophic osteoarthropathy regressed after intensive chemotherapy, but subsequently the patient died of progressive lung metastasis.

Clinical Outcome of the Chromosomal Abnormalities in Acute Myeloid Leukemia with M2 Subtype / 대한혈액학회지

BACKGROUND: Acute myelod leukemia (AML) is a hematologic malignant disease characterized by uncontrolled proliferation of myeloid cells in marrow and arrest in their maturation. It accounts for 70~80% of chromosomal abnormalities and t (8;21) has been found in 40% of AML-M2. Because cytogenetic studies can help classifying the disease, providing the clues of disease progression and monitoring remission after chemotherapy, we have performed cytogenetic studies to identify the incidence of t (8;21) and other chromosomal abnormalities and to assure their prognostic significance in patients with AML-M2. METHODS: From August 1998 to July 2000, 38 patients with AML-M2 were treated with ara-C and idarubicin in order to induce complete remission. We evaluated chromosomal abnormalities by high resolution banding technique. We divided patients into 3 groups. Patients having normal and intermediate risk karyotype belonged to group A, t (8;21) to group B and, unfavorable and undetermined prognostic karyotype to group C. RESULTS: The incidence of chromosomal abnormalities was 71% (27/38), and the proportion of A, B, and C group were 40%, 30% and 30%, respectively. The median follow up duration of evaluable patients was 381 (55~1,295) days. The complete remission (CR) rate accounted for 79% (30/38). The CR rate in A, B and C group were 88% (14/16), 91% (10/ 11) and 55% (6/11), respectively (P=0.06). The median remission duration had not been reached yet. The median remission duration of group A and B had not been reached yet, but that of group C was 337 days (P=0.60). The overall median survival duration was 567 days, and the median survival duration of group B had not been reached yet, otherwise those that of group A and C were 432 days and 364 days, respectively (P=0.02). CONCLUSION: The incidence of chromosomal abnormalities was observed 71% in patients with AML-M2. The patients with t (8;21) showed higher complete remission rate and tendency to have longer remission duration and survival duration.