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X 연관 부신백질이영양증의 분류, 진단 및 치료의 최신 지견
정을식(Eul Sik Jung),고아라(Ara Ko),강훈철(Hoon Chul Kang) 대한소아신경학회 2016 대한소아신경학회지 Vol.24 No.3
X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ATP binding cassette subfamily D member 1 (ABCD1), a gene that encodes peroxisomal membrane located on ABC half-transporter named adrenoleukodystrophy protein (ALDP). X-ALD is characterized by a highly variable clinical spectrum, including progressive cerebral type, adrenomyeloneuropathy, and addison-only phenotype. No genotype/phenotype correlation has been established. Thus, unidentified modifier genes and other co-factors are speculated to modulate the phenotypic variation and disease severity. Recent advanced sequencing methods and reprogramming technologies not only offer an affordable and applicable approach to investigate the pathophysiological mechanisms of adrenoleukodystrophy, but also provide means to develop therapy. A causal therapy of X-ALD is lacking. Lorenzo’s oil therapy is recommended for asymptomatic boys, but the longest study found that the oil was not beneficial at all to symptomatic X-ALD patients. Hematopoietic stem cell therapy has a relevant chance of success when performed during this early stage of cerebral type X-ALD. Recently, it has been insisted that lentiviral-mediated gene therapy of hematopoietic stem cells can provide clinical benefits in X-ALD. This review describes current knowledge on the clinical presentation, pathogenesis, diagnosis and management of X- ALD.
증례 : 신장 ; 트라넥사민산에 의해 유발된 급성 신피질 괴사 1예
성지윤 ( Ji Yoon Sung ),정을식 ( Eul Sik Jung ),최성한 ( Shung Han Choi ),신동수 ( Dong Su Shin ),이현희 ( Hyun Hee Lee ),정우경 ( Woo Kyung Chung ),장제현 ( Jae Hyun Chang ) 대한내과학회 2012 대한내과학회지 Vol.82 No.4
Kidney cortex necrosis is a relatively rare cause of acute kidney injury and is characterized by complete or partial destruction of the renal cortex, but sparing of the medulla. Tranexamic acid has antifibrinolytic activity and is used to reduce bleeding. We report a rare case of kidney cortex necrosis caused by tranexamic acid. A 49-year-old woman complained of coughing up blood-tinged sputum. She had a history of bronchiectasis and was treated with tranexamic acid for 3 days. Four days after admission, she developed anuria and azotemia. Computerized tomography showed enhancement of the renal medulla, but not the bilateral renal cortex. The patient was treated with hemodialysis, and has since been maintained on hemodialysis for 6 months. Due to the development of kidney cortex necrosis in patients treated with tranexamic acid, all its potential complications should be considered. (Korean J Med 2012;82:503-506)
증례 : 감염 ; 수술 후 발생한 Corynebacterium Striatum 복강 내 감염
최현석 ( Hyun Seok Choi ),김주승 ( Ju Seung Kim ),정을식 ( Eul Sik Jung ),김애진 ( Ae Jin Kim ),정한 ( Han Jung ),박윤수 ( Yoon Soo Park ),서일혜 ( Yiel Hea Seo ) 대한내과학회 2012 대한내과학회지 Vol.82 No.4
Corynebacterium striatum is an aerobic, Gram-positive bacillus that is part of the resident flora of skin and mucosal membranes. C. striatum is usually considered a non-pathogenic contaminant, although infective endocarditis and respiratory infection, and less frequently arthritis and meningitis, due to C. striatum have been reported. C. striatum has been particularly associated with catheter-related infections and infections following conditions that resulted in disruption of the skin barrier in both immunocompromised and immunocompetent hosts. We describe a case of post-operative intra-abdominal infection caused by the rare pathogen, C. striatum. (Korean J Med 2012;82:516-519)
정석후 ( Seok Hu Jeong ),오경용 ( Kyong Yong Oh ),신동수 ( Dong Su Shin ),최성한 ( Shung Han Choi ),정을식 ( Eul Sik Jung ),박진선 ( Jin Sun Park ),나선영 ( Sun Young Na ),성지윤 ( Ji Yoon Sung ),정지용 ( Ji Yong Jung ),김세중 ( S 대한신장학회 2010 Kidney Research and Clinical Practice Vol.29 No.4
Kaposi`s sarcoma (KS) is an unusual multifocal neoplasm of vascular endothelial cell origin. The trunk, arms, head, and neck are the most common sites. It is common in men and has four distinct variants: classic, Africa-endemic, immunosuppressive drug-associated, and acquired immunodeficiency syndromeassociated KS. KS appears to develop immunosuppressed patients, but is uncommon in patients on dialysis. A 79-year-old man on hemodialysis for 2 months presented with pruritus over the entire body and multiple, discrete, variable-sized, dark blue papulonodules (papuloplaques, maculopapules) on the left arm and shoulder. A biopsy specimen form the left arm showed spindle cells with slit-like spaces and extravasated red blood cells. The specimen was positive for CD 34 antigen, and human herpesvirus 8 was detected. We report a case of KS that occurred in a 79-year-old patient on hemodialysis.