• Journal of Genetic Medicine
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• 제4권2호
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• pp.200-203
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• 2007

C형 Niemann-Pick병은 NPC1 및 NPC2 유전자의 돌연변이로 인해 발생하는 질환으로 상염색체 열성으로 유전되며 신생아 간염과 간비비대, 이후 안구의 수직운동 마비, 조화운동불능, 구음장애, 근육긴장이상, 경련 등 서서히 진행하는 신경학적 이상을 보이게 된다. 환아는 7개월 된 여아로 출생 후부터 황달과 간비비대가 지속되어 리소솜성 축적질환을 의심하였고 시행한 골수검사상 거품형태의 조직구가 관찰되어 Niemann-Pick병을 진단하였다. 신생아 황달, 간비비대 등 환아의 임상양상을 고려했을 때 C형 Nimann-Pick병이 의심되었고 확진을 위해 시행한 NPC1 유전자 검사에서 c.451_452del (p.Ser151TrpfsX18) 및 새로운 돌연변이인 c.1757+3_6del의 이형접합체임을 확인하여 질환을 확진 하였다.

• Pediatric Infection and Vaccine
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• 제23권1호
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• pp.72-76
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• 2016

골화석증은 골격의 경화증이 특징적으로 나타나는 드문 유전 질환으로 뼈 흡수 기전에 손상이 오며 조기 사망하는 질환이다. 반면 거대세포바이러스 감염은 가장 흔한 선천성 감염 중 하나로 빈혈, 혈소판 감소증과 간비장종대, 뇌 석회화 등이 나타날 수 있다. 심한 간비비대, 혈소판 감소증 및 저칼슘혈증과 발달지연으로 내원한 환자에서 두 가지 질환이 함께 있어 항바이러스제 치료 및 대증치료를 시행하였고, 치료 반응이 빠르게 나타나지는 않았으나 지속적인 치료 결과 대부분의 수치가 정상화 되는 것을 확인하였다. 본 증례는 골화석증 신생아에게 동반된 거대세포바이러스 감염의 첫 증례 보고로, 거대세포바이러스 감염에 대한 항바이러스제의 장기 치료로 호전된 사례이다.

• Clinical and Experimental Pediatrics
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• 제49권12호
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• pp.1358-1362
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• 2006

Niemann-Pick병은 lysosome내에 sphingomyelinase의 결핍으로 sphingomyelin이란 지질이 축적된 세포들이 간, 비장, 골수, 폐, 및 뇌 등에 침착되어 간, 비장 종대 및 신경증상을 나타내며, 상염색체 열성으로 유전되는 대사성 질환이다. 1914년 Niemann에 의해 처음 보고되어 Gaucher병의 한 변형으로 분류되어 있다가, 1927년 Pick에 의해 새로 분류되어 Niemann-Pick 병으로 명명되었다. 세계적으로도 희귀한 질환으로 국내에서는 1962년 정 등이 처음 보고한 이래 현재까지 저자가 조사한 바로 총 7례 정도가 보고되었다.저자들은 18개월 된 남아에서 임상증상 및 검사 소견으로 A 형 Niemann-Pick병으로 생각되는 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• 대한유전성대사질환학회지
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• 제17권2호
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• pp.55-62
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• 2017

고셔병은 리소좀축적병으로 lysosomal hydrolase glucocerebrosidase 결여로 간비장비대, 골격계 증상, 빈혈, 혈소판 감소증의 증상을 나타내는 드문 상염색체 유전 질환이다. 본 증례에서는 18개월 남아에서 간비장비대, 성장 부진이 관찰되었으며 안구 운동 장애 및 발달 지연이 동반되어 제 3형 고셔병을 의심하였고 효소 분석 및 유전자 검사를 통해 확진하였다. 환아에서 한국인 신경형 고셔병에서 흔하게 관찰되는 c.754T>A(F213I)와 c.887G>A (R257Q)가 이형 접합체 돌연변이로 확인되었고 17개월 간의 효소 대체 요법을 통해 성장, 혈액학적 지표, 간비장비대 및 골증상은 호전되었지만 신경학적 증상의 호전은 없었고, 샤프론 중암브록솔에 유의한 반응이 있다고 알려져 있는 c.754T>A이 확인됨에 따라 환아에서 3개월간 암브록솔 치료를 시도하였지만 뚜렷한 임상적 치료 효과를 확인할 수 없었기에 본 증례를 보고하는 바이다.

• 대한암한의학회지
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• 제10권1호
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• pp.93-98
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• 2005

Angiocentric T-cell lymphoma is a rare form of peripheral T-cell lymphoma. The disease typically manifests clinically as an aggressive, progressively destructive disorder often with a fatal outcome. It is the aim of the present paper to derive further studies evaluating the effectiveness of Korean traditional medicine on angiocentric T-cell lymphoma with intra-abdominal metastasis. A patient with high fever, weight loss, night sweat and general weakness(B symptoms) was diagnosed as angiocentric T-cell lymphoma and chemotherapy was done more than 10 times. But the response to chemotherapy was poor, finally the lymphoma involved liver and spleen. The abdominal CT showed the hepatosplenomegaly, diffuse lymphoma of liver and spleen, massive ascites, minimal pleural effusion. Then the patient gave up the chemotherapy and only herb medications (Bohyunsoamtang-A,B) were administered. The ascites, high fever and hepatosplenomegaly gradually reduced to normal. He survived for 7 years after first diagnosis, which is much longer than average survival time in angiocentric T-cell lymphoma with B symptoms. This case may give us a possibility of that Korean traditional herb medications offer potential benefits for patients with angiocentric T-cell lymphoma, and more researches are needed.

• 대한유전성대사질환학회지
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• 제17권2호
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• pp.63-68
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• 2017

고셔병은 리소좀축적병으로 lysosomal hydrolase glucocerebrosidase 결여로 간비장비대, 골격계 증상, 빈혈, 혈소판 감소증의 증상을 나타내는 드문 상염색체 유전 질환이다. 본 증례에서는 2세 여아에서 간비장비대, 다리 통증, 성장부진이 관찰되어 시행한 단순 방사선 촬영 검사에 Erlenmeyer flask 변형을 확인하여 고셔병을 의심하였고 효소 분석 및 유전자 검사를 통해 확진하였다. 환아에서 한국인 비신경형 고셔병에서만 관찰되는 G46E 돌연변이를 확인하였고 1년 간의 효소 대체 요법을 통해 성장, 혈액학적 지표, 간비장비대 및 골증상의 호전을 확인하였기에 본 증례를 보고하는 바이다.

• Journal of Yeungnam Medical Science
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• 제24권2호
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• pp.333-338
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• 2007

A preterm newborn affected by congenital syphilis, born to mother not treated during pregnancy is described. The clinical picture was characterized by respiratory distress, cutaneous manifestations, massive hepatosplenomegaly, severe anemia, thrombocytopenia, disseminated intravascular coagulation syndrome and hypoalbuminemia. The patient was treated with daily injections of 190,500 units of crystalline penicillin G for 14 days. Premature infants with these symptoms and signs should be evaluated for congenital syphilis.

• 대한세포병리학회지
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• 제7권1호
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• pp.79-83
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• 1996

Gaucher's disease is an autosomal recessive disorder resulting from mutation at the glucocerebrosidase locus on chromosome 1q21. As a result, glucocerebroside accumulates principally in the phagocytic cells known as Gaucher cells. In our case, a five-year old girl was admitted with seven days' history of fever and abdominal distension. At physical examination the patient had hepatosplenomegaly. Laboratory tests revealed a hemoglobin concentration of 2.8g/L: platelet counts of $23,000/{\mu}l$: normal range of white cell and differential counts, and negative Coombs' test. Liver enzymes were normal. For the evaluation of hepatosplenomegaly, fine needle aspiration was performed blindly against the palpable spleen. Wet-fixed hematoxylin and eosin-stained smears are made. The smears from the spleen showed predominantly macrophages with abundant cytoplasm and rather small, uniform, often eccentric nuclei with small nucleoli. The multinucleated cells were often found. The cytoplasm was pale, with more or less distinct fibrillarity. The cells had the characteristic appearance of Gaucher cells. Gaucher cells were also found in the tissue section from the liver, spleen and lymph node and the bone marrow aspirate. The diagnosis was later confirmed by determination of bela-glucosidase activity in peripheral blood leucocytes. Fine needle aspiration of the spleen is considered as a convenient procedure with a low complication rate for the diagnosis of lysosomal storage disease.

• Clinical and Experimental Pediatrics
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• 제55권2호
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• pp.48-53
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• 2012

Purpose: Gaucher disease is caused by a ${\beta}$-glucocerebrosidase (GBA) deficiency. The aim of this study is to investigate the clinical and genetic characteristics according to subtypes of Gaucher disease in the Korean population. Methods: Clinical findings at diagnosis, $GBA$ mutations, and clinical courses were reviewed in 20 patients diagnosed with Gaucher disease. Results: Eleven patients were diagnosed with non-neuronopathic type, 2 with acute neuronopathic type, and 7 with chronic neuronopathic type. Most patients presented with hepatosplenomegaly, thrombocytopenia, and short stature. In the neuronopathic group, variable neurological features, such as seizure, tremor, gaze palsy, and hypotonia, were noted at age $8.7{\pm}4.3$ years. B cell lymphoma, protein-losing enteropathy, and hydrops fetalis were the atypical manifestations. Biomarkers, including chitotriosidase, acid phosphatase, and angiotensin-converting enzyme, increased at the initial evaluation and subsequently decreased with enzyme replacement treatment (ERT). The clinical findings, including hepatosplenomegaly, thrombocytopenia, and skeletal findings, improved following ERT, except for the neurological manifestations. L444P was the most common mutation in our cohort. One novel mutation, R277C, was found. Conclusion: Although the clinical outcome for Gaucher disease improved remarkably following ERT, the outcome differed according to subtype. Considering the high proportion of the neuronopathic form in the Korean population, new therapeutic strategies targeting the central nervous system are needed, with the development of a new scoring system and biomarkers representing clinical courses in a more comprehensive manner.

• Parasites, Hosts and Diseases
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• 제53권5호
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• pp.545-551
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• 2015

Schistosomiasis is one of the important neglected tropical diseases (NTDs) in Tanzania, particularly in Lake Victoria zone. This baseline survey was a part of the main study of integrated control of schistosomiasis and soil-transmitted helminths (STHs) aimed at describing morbidity patterns due to intestinal schistosomiasis among adults living on Kome Island, Sengerema District, Tanzania. Total 388 adults from Kome Islands (about 50 people from each village) aged between 12 and 85 years, were examined by abdominal ultrasound according to the Niamey protocol. Liver image patterns (LIPs) A and B were considered normal, and C-F as distinct periportal fibrosis (PPF). The overall prevalence of PPF was 42.2%; much higher in males than in females (47.0% in male vs 34.4% in females, P=0.007). Abnormal increase of segmental branch wall thickness (SBWT) and dilated portal vein diameter (PVD) were also more common in males than in females. Hepatosplenomegaly was frequently encountered; 68.1% had left liver lobe hepatomegaly and 55.2% had splenomegaly. Schistosoma mansoni-related morbidity is quite high among adults in this community justifying the implementation of integrated control strategies through mass drug administration, improved water supply (pumped wells), and health education that had already started in the study area.