Minimal Change Disease in a Patient with Multiple Endocrine Neoplasia Type 1 / 대한내과학회지

Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant disorder characterized by two or more tumors of the parathyroid gland, duodenum-pancreas, and anterior pituitary. Membranous nephropathy is the most common manifestation of paraneoplastic glomerulopathy. However, minimal change disease in patients with MEN 1 has yet to be reported. Here, we report a case of minimal change disease in a 59-year-old man with MEN 1, along with a review of the relevant literature.

Renal Failure with Branchio-Oto-Renal Syndrome / 대한내과학회지

Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder that is characterized by preauricular pits, branchial fistula, branchial cyst, hearing impairment, and kidney anomalies. Hearing impairment is the single most common feature of BOR syndrome, affecting 89% of patients. Preauricular pits (77%), kidney anomalies (66%), branchial fistula (63%), external auditory canal anomalies (41%) are also common. For most patients, BOR syndrome does not affect life expectancy. The major life-threatening feature of this condition is kidney dysfunction, which occurs with about 6% of kidney anomalies. Therefore, once BOR syndrome is recognized in a patient, careful evaluation to detect renal anomalies and treatment of any kidney involvement are necessary. No case reports of BOR syndrome involving adult-onset end-stage kidney disease have been published in the Korean medical literature. We report a case of end-stage kidney disease in a 19-year-old male patient with BOR syndrome, together with a review of the pertinent literature.

A Patient with Henoch-Schönlein Purpura with Intussusception and intractable Nephritis

Henoch-Schönlein purpura (HSP) is the most common vasculitis in children, mainly affecting the small vessels of the skin, joints, gastrointestinal tract, and kidneys. Although most cases of HSP resolve spontaneously without sequelae, serious nephrological and intestinal problems may occur in some cases. We experienced a case of HSP complicated by simultaneous intussusception and nephritis in a 14-year-old boy who developed a sudden abdominal pain and gross hematuria on the 11th day after onset of the disease. Imaging studies revealed intussusception that required emergency laparotomy. Despite treatment with steroid and angiotensin-converting enzyme inhibitors, nephritis and nephrosis progressed for 4 weeks, and renal biopsy was performed to confirm the diagnosis. Cyclosporin A therapy was started, and remission of proteinuria was achieved after 5 months. However, the nephritis recurred and worsened to end-stage renal failure during 15 years of follow-up.

A Case of Recurrent Adrenocortical Carcinoma with Stomach Metastasis

Adrenocortical carcinoma (ACC) is a rare disease with poor prognosis. We experienced a case of recurrent ACC with stomach metastasis which had been completely cured a long while ago. A 52-year-old man who presented with right thigh pain was hospitalized. We found a lumbar spine mass on magnetic resonance imaging scan. And this lesion was identified as metastatic adrenocortical carcinoma. The patient had been treated as stage II non-functioning ACC 19 years ago. At that time radical resection and adjuvant chemotherapy were successfully done. And the follow-up evaluation was discontinued, since it had been checked as no evidence of disease (NED) state for 5 years. But this time, there were multiple metastatic sites revealed in positron emission tomography-computed tomography scan including stomach. Therefore, we report a case of ACC herewith that it could be recurred even though long-term NED state was passed after treatment and stomach could be a metastatic site of ACC.

A Case of Multiple Myeloma Presenting Acute Renal Failure in a Patient with Rheumatoid Arthritis

It is known that rheumatoid arthritis (RA) patients show increased incidence of multiple myeloma (MM), despite its rarity. Only one case of MM with seronegative RA was reported in Korea, thus far. We report a case of MM with seropositive RA. The patient was a 66 year old female who had been diagnosed with seropositive RA 4 years ago. Over the last 1 month, the patient experienced general weakness and weight loss of 10 kg. It was found that her serum creatinine had increased and her urine analysis showed proteinuria. To evaluate renal failure and proteinuria, renal biopsy, bone marrow biopsy and electrophoresis were carried out. A diagnosis of myeloma cast nephropathy was made. We report this rare case of MM represented as acute renal failure during the treatment for RA, and include a review of the literature.

Comparison of neoadjuvant adriamycin and docetaxel versus adriamycin, cyclophosphamide followed by paclitaxel in patients with operable breast cancer / 대한외과학회지

PURPOSE: Neoadjuvant chemotherapy is the standard treatment for patients with locally advanced breast cancer and is increasingly considered for patients with operable disease. Recently, as many clinical trials have demonstrated favorable outcomes of anthracycline-taxane based regimen, this approach has been widely used in the neoadjuvant setting. METHODS: We compared women who received adriamycine and docetaxel (AD) with adriamycin, cyclophosphamide followed by paclitaxel (AC-T) as neoadjuvant chemotherapy. The AD group was scheduled for six cycles of AD (50 mg/m2 and 75 mg/m2, respectively) at a 3-week interval. The AC-T group was scheduled for four cycles of adriamycin and cyclophosphamide (50 mg/m2 and 500 mg/m2, respectively) followed by four cycles of paclitaxel (175 mg/m2) at a 3-week interval. RESULTS: The responses of chemotherapy were equivalent (overall response rate [AD, 75.7% vs. AC-T, 80.9%; P = 0.566], pathologic complete response [pCR] rate [breast and axilla: AD, 10.8% vs. AC-T, 12.8%; P = 1.000; breast only: AD, 18.9% vs. AC-T, 14.9%, P = 0.623], breast conserving surgery rate [P = 0.487], and breast conserving surgery conversion rate [P = 0.562]). The pCR rate in the breast was higher in the human epidermal growth factor receptor 2 (HER2) positive cases (HER2 positive 33.3% vs. negative 10%, P = 0.002). Although nonhematologic toxicities were comparable, hematologic toxicities were more severe in the AD group. Most women in the AD group suffered from grade 3/4 neutropenia (P < 0.001) and neutropenic fever (P < 0.001). CONCLUSION: Tumor responses were not different in various variables between the two groups. However, AC-T was a more tolerable regimen than AD in patients with breast cancer receiving neoadjuvant chemotherapy.

A Case of Sarcoidosis Associated with Renal Failure in a Kidney Transplant Patient / 대한내과학회지

Sarcoidosis, systemic inflammatory disease characterized by non-caseating granulomas, is rarely associated with renal failure in a kidney transplant. We report a 51-year-old woman with a kidney transplant who was diagnosed to have renal sarcoidosis. After 7 years of renal transplantation, the patient presented with relatively rapid deterioration of renal function and, subsequently, she underwent kidney transplant biopsy. Renal biopsy revealed interstitial nephritis with non-caseating granulomas compatible with granulomatous interstitial nephritis (GIN). She was also found to have granulomatous lymphadenitis and skin lesions. Diagnosis of sarcoidosis was made based on histopathologic findings, the high serum angiotensin converting enzyme level and exclusions of other causes of GIN including tuberculosis, ANCA associated glomerulonephritis and tubulointerstitial nephritis and uveitis syndrome. The patient was started on oral prednisolone, and subsequently her renal function improved.

Granulocytic Sarcoma in Breast after Bone Marrow Transplantation / 한국유방암학회지

Granulocytic sarcoma is a localized extramedullary solid tumor composed of immature myeloid cell and is usually associated with acute myeloid leukemia or myelodysplastic syndrome. Although it can involve any site, commonly in lymph nodes, skin, bone and soft tissue, the involvement of breast is unusual. Especially, the involvement of the breast as a pattern of relapse after bone marrow transplantation is extremely rare. We have experienced 2 cases of granulocytic sarcoma after bone marrow transplantation. One case was a 39-year-old woman with right breast mass diagnosed with granulocytic sarcoma. She had received an unrelated bone marrow transplantation due to biphenotype acute leukemia 3 years before our presentation. Another case was a 48-year-old woman with acute myeloid leukemia, who was diagnosed with granulocytic sarcoma on both breasts 8 months after allogenic bone marrow transplantation. We also discuss the clinicopathologic features of granulocytic sarcoma in breast after bone marrow transplantation.

Differential Diagnosis in Idiopathic Granulomatous Mastitis and Tuberculous Mastitis / 한국유방암학회지

PURPOSE: Idiopathic granulomatous mastitis (IGM) is a rare chronic inflammatory disease of unknown etiology. The diagnosis of IGM requires that other granulomatous lesions in the breast be excluded. Tuberculous mastitis (TM) is also an uncommon disease that is often difficult to differentiate from IGM. The purpose of this study is to develop a new algorithm for the differential diagnosis and treatment of IGM and TM. METHODS: Medical records of 68 patients (58 with IGM and 10 with TM) between July 1999 and February 2009 were retrospectively reviewed. RESULTS: The mean age of the patients was 33.5 (IGM) and 40 (TM) years (p=0.018). The median follow-up was 84 months. Of the total 10 patients with TM, 5 patients had a history of pulmonary tuberculosis. The most common symptoms of the diseases were breast lump and pain. However, axillary lymphadenopathy was more seen in TM (50%) compared to IGM (20.6%) (p=0.048). TM showed more cancer-mimicking findings on radiologic study (p=0.028). In IGM, 48 patients (82.7%) underwent surgical wide excision and 21 patients (36.2%) were managed with corticosteroid therapy and antibiotics. All of the TM patients received anti-tuberculosis medications and 9 patients (90%) underwent wide excision. The mean treatment duration was 2.8 months in IGM and 8.4 months in TM. Recurrence developed in 5 patients (8.6%) in IGM and 1 patient (10%) in TM. CONCLUSION: This study shows different characteristics between IGM and TM. The IGM patients were younger and had more mastalgia symptoms than the TM patients. Axillary lymphadenopathy was seen more often in TM patients. Half of the TM patients had pulmonary tuberculosis or tuberculosis lymphadenitis. Surgical wide excision might be both therapeutic and useful for providing an exact diagnosis.

Thrombotic Microangiopathy during Ganciclovir Treatment for Cytomegalovirus Infection in a Patient with Autologous Hematopoietic Stem Cell Transplantation / 임상소아혈액종양

Thrombotic microangiopathy (TMA) is a known complication of hematopoietic stem cell transplantation (HSCT). Here, we describe a case of TMA after autologous HSCT, which was associated with ganciclovir treatment. A 5-year-old boy presented with Coombs-negative hemolytic anemia, thrombocytopenia, gross hematuria, massive proteinuria, and hypertension during ganciclovir treatment after autologous HSCT. TMA was confirmed by renal biopsy which showed swelling of endothelial cells, occlusion of the glomerular lumina, duplication of glomerular basement membranes, and mesangiolysis. There was complete resolution of TMA in both laboratory and clinical manifestations after ganciclovir cessation only with supportive cares and hydration.

Role of Corticotrophin-releasing Factor in the Stress-induced Dilation of Esophageal Intercellular Spaces

Corticotrophin-releasing factor (CRF) plays a major role in coordinating stress responses. We aimed to test whether blocking endogenous CRF activity can prevent the stress-induced dilation of intercellular spaces in esophageal mucosa. Eighteen adult male rats were divided into 3 groups: 1) a non-stressed group (the non-stressed group), 2) a saline-pretreated stressed group (the stressed group), 3) and an astressin-pretreated stressed group (the astressin group). Immediately after completing the experiments according to the protocol, distal esophageal segments were obtained. Intercellular space diameters of esophageal mucosa were measured by transmission electron microscopy. Blood was sampled for the measurement of plasma cortisol levels. Mucosal intercellular spaces were significantly greater in the stressed group than in the non-stressed group. Mucosal intercellular spaces of the astressin group were significantly smaller than those of the stressed group. Plasma cortisol levels in the stressed group were significantly higher than in the non-stressed group. Pretreatment with astressin tended to decrease plasma cortisol levels. Acute stress in rats enlarges esophageal intercellular spaces, and this stress-induced alteration appears to be mediated by CRF. Our results suggest that CRF may play a role in the pathophysiology of reflux-induced symptoms or mucosal damage.

Thrombotic Microangiopathy during Ganciclovir Treatment for Cytomegalovirus Infection in a Patient with Autologous Hematopoietic Stem Cell Transplantation / 임상소아혈액종양

Thrombotic microangiopathy (TMA) is a known complication of hematopoietic stem cell transplantation (HSCT). Here, we describe a case of TMA after autologous HSCT, which was associated with ganciclovir treatment. A 5-year-old boy presented with Coombs-negative hemolytic anemia, thrombocytopenia, gross hematuria, massive proteinuria, and hypertension during ganciclovir treatment after autologous HSCT. TMA was confirmed by renal biopsy which showed swelling of endothelial cells, occlusion of the glomerular lumina, duplication of glomerular basement membranes, and mesangiolysis. There was complete resolution of TMA in both laboratory and clinical manifestations after ganciclovir cessation only with supportive cares and hydration.

Practical Standardization in Renal Biopsy Reporting

BACKGROUND: To standardize renal biopsy reporting and diagnosis, The Renal Pathology Study Group of the Korean Society of Pathologists (RPSKSP) has developed a renal pathology reporting format for the native and allograft kidney. METHODS: A consensus checklist of a provisional renal biopsy format was sent to all members of the RPSKSP. Feed back opinions regarding the practical application of the checklist to the diagnostic work were received. RESULTS: Kidney biopsies require three essential examinations: by light microscopy, immunofluorescence (IF), and electron microscopy (EM). A final report of a renal biopsy should include information on specimen adequacy and a description of the morphologic change using a systematic semiquantitative method for each of the compartments, with optional separate IF and EM reports. CONCLUSIONS: A standard renal biopsy report format is important in establishing clinicopathologic correlations, making reliable prognostic considerations, comparing the findings in sequential biopsies and evaluating the effects of therapy.

A Case of Acute Renal Failure Complicated by the Poisoning of Amanita virgineoides / 대한신장학회지

Mushroom poisonings are potentially fatal. Most fatalities are due to the amatoxin that causes fulminant hepatic failure and acute renal failure. We report a patient who developed acute renal failure after ingesting Amanita virgineoides, which required renal replacement therapy, despite recovery of liver injury. A kidney biopsy showed acute tubular necrosis. The patient was recovered with the supportive care and temporary hemodialysis.

18F-FDG PET/CT Finding in a Case of Xanthogranulomatous Pyelonephritis / 핵의학분자영상

Xanthogranulomatous pyelonephritis is an uncommon chronic renal infection, which is usually found on middle-aged women and is rare in infant. Sometimes it forms focal mass like lesion of kidney with pathologically characteristic lipid-laden macrophage. A 1-month female infant was admitted for fever and moaning sound. On work-up of urinary tract infection, abdomen ultrasonography and computed tomography revealed a large mass on the upper portion of right kidney and PET/CT showed homogeneously increased 18F-FDG uptake. The radical nephrectomy of right kidney was performed and histology revealed a focal xanthogranulomatous pyelonephritis. To our knowledge, this is the first report presenting the finding of 18F-FDG PET/CT in the childhood xanthogranulomatous pyelonephritis.

Bucillamine-induced Nephropathy / 대한류마티스학회지

OBJECTIVE: Bucillamine is a disease-modifying antirheumatic drug that's widely used in Korea and Japan, and it is reported to be a cause of proteinuria. However, the clinical course of the nephropathy associated with the use of bucillamine in rheumatoid arthritis patients has not been described in detail in Korea. METHODS: We examined clinical records of 835 patients who were treated with bucillamine for rheumatoid arthritis at least 2 months at Ajou University Hospital from 2003 to 2008, and we found 23 patients (2.75%) with proteinuria. Each patient was followed up until the proteinuria had resolved. RESULTS: At the time the proteinuria developed, the mean age of patients was 53.8+/-11.0 years. Only one patient had marked hypoalbuminemia (<3.0 g/dL). The mean value of the random urine protein-creatinine ratio was 3.44+/-2.99. The proteinuria appeared 4~18 months after the initiation of the treatment with bucillamine. Among the patients, renal biopsy was carried out in 18 patients, and pathological findings were 17 cases of membranous glomerulopathy and 1 case of focal segmental glomerulosclerosis. On the follow-up of the 18 patients, the proteinuria in all the patients had resolved completely without deterioration of renal function. But the time to resolution of the proteinuria was positively correlated with the length of bucillamine treatment after the onset of proteinuria (p<0.001, r=0.744). CONCLUSION: Prevalence of proteinuria in patients receiving bucillamine was 2.75%, and bucillamine-induced nephropathy showed a good prognosis in Korea. The most important thing for resolving the bucillamine-induced proteinuria is to discontinue the bucillamine.

An Antinuclear Antibody-Negative Patient With Lupus Nephritis

Systemic lupus erythematosus (SLE) is a typical autoimmune disease that's characterized by various autoantibodies to nuclear and cytoplasmic antigens. The presence of antinuclear antibodies (ANA) in serum is generally considered a decisive diagnostic sign of SLE. However, a small subset of SLE patients who had the typical clinical features of SLE was reported to show persistently negative ANA tests. Our report describes a 16-yr-old female who presented with the clinical manifestations of SLE such as malar rash, photosensitivity, arthritis, lymphopenia, pericarditis and proteinuria. The serum autoantibodies were all negative and renal biopsy showed that the histopathological changes of immune complex mediated the focal segmental necrotizing glomerulonephritis with crescent formation. She was treated with monthly pulse cyclophosphamide along with corticosteroids. During the 2-yr follow-up period, the proteinuria was markedly decreased and all of the ANA and anti-double stranded DNA antibody tests were negative. This case suggests that ANA may not be required in the pathogenesis of lupus nephritis.

Fatal Infectious Mononucleosis: A case report / 대한법의학회지

Infectious mononucleosis(IM) is a benign self-limiting disease and result from a polyclonal B cell proliferation secondary to Epstein-Barr virus (EBV) infections. The infection is controlled by cytotoxic T cells triggered by EBV infected B cells. However, rare cases develop severe or fatal IM accompanied by hemophagocytic syndrome. We report a case of a 4-year-old girl who presented with high fever, hepatosplenomegaly, hepatic failure, pancytopenia and coagulopathy. Despite intensive treatment, the patient's condition deteriorated rapidly and died 3 days after admission. At autopsy, there was prominent infiltration of atypical lymphocytes with hemophagocytosis in multiple organs, especially liver, spleen and lymph nodes. Atypical lymphocytes were immunopositive for T cell markers and showed positive signal in EBV in situ hybridization.

Successful treatment of Staphylococcus aureus associated rapid progressive glomerulonephritis and pulmonary hemorrhage with plasmapheresis / 대한내과학회지

A 45-year-old man was admitted for fever, myalgia, and generalized edema with multiple localized erythema. He had no healthy problem before these symptoms developed. Abdominal CT scan showed multiple abscess in the right buttock, left psoas, and both inguinal area. Blood and wound culture drawn during the hospitalization grew methicillin sensitive Staphylococcus aureus (MSSA). Although antibiotic therapy and incisional drainage of abscess pocket, acute renal insufficiency was progressed and massive pulmonary hemorrhage and acute respiratory failure were developed. In addition to antibiotics, plasmapheresis and steroid pulse therapy made him improved dramatically from acute renal failure and pulmonary hemorrhage. The renal biopsy showed pauci-immune crescentic glomerulonephritis (GN). This result supports that plasmapheresis and steroid therapy may be beneficial in the treatment of staphylococcal infection-associated GN as several groups reported.

Prognostic Value of Bone Marrow Micrometastasis Detected by Nested RT-PCR for Cytokeratin 19 and Mammaglobin in Breast Cancer

PURPOSE: Breast cancers frequently undergo distant metastasis during the early phase, on which the survival of patients is greatly dependent. It has been suggested that the occurrence of micrometastasis relates with other prognostic features of breast cancer, such as lymph node metastasis and the presence of vascular invasion. The aim of this study was to examine the presence of keratin-19 and mammaglobin mRNA in bone marrow aspirates obtained from breast cancer patients, and their possible correlation with tumor staging and disease free survival. METHODS: Bone marrow samples were obtained from 254 breast cancer patients at the time of surgery. We separated the mononuclear fraction from the samples and carried out nested reverse transcriptase polymerase chain reaction for the detection of keratin-19 and mammaglobin mRNA using two different pairs of primers. We also studied the possible correlations between the tumor size, nodal involvement, stage, and distant metastasis. RESULTS: Seventy-five of the 254 samples were studied for cytokeratin 19 and the others for cytokeratin and mammaglobin. The median follow-up time was 21.1 months. Sixty-five (26%) of the 254 samples were cytokeratin 19 positive and 25 (14.3%) of the 175 were mammaglobin positive. Eight cases (12.3%) in the cytokeratin positive group showed a recurrent disease in distant organs. Whereas, six (3.2%) out of 185 cytokeratin negative patients had distant recurrences. Mammaglobin positivity was not correlated with distant metastasis. The stage, nodal status, and estrogen receptor were independent of bone marrow micrometastasis. CONCLUSION: Bone marrow micrometastasis, detected by nested RT-PCR for cytokeratin 19, could be a useful predictive marker for the distant metastasis of breast cancer.