• Childhood Kidney Diseases
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• 제16권1호
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• pp.58-62
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• 2012

방광요관역류(5등급)가 동반된 요로감염영아(4개월)에서 발열 초기(15시간)에 민감한 항생제로 치료하였음에도 불구하고 신농양으로 진행되었고 장기 항생제 치료(6주)와 초음파 감시하 세침 흡인으로 경도의 신반흔을 남기고 호전된 1례를 경험하였기에 보고하는 바이다.

• Childhood Kidney Diseases
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• 제22권2호
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• pp.91-96
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• 2018

Nephrotic syndrome in the first year of life, characterized by renal dysfunction and proteinuria, is associated with a heterogeneous group of disorders. These disorders are often related to genetic mutations, but the syndrome can also be caused by a variety of other diseases. We report an infant with nephrotic syndrome associated with a neuroblastoma. A 6-month-old girl was admitted with a 10% weight loss over 10 days and nephrotic-range proteinuria. She was ill-looking, and her blood pressure was higher than normal for her age. Her cystatin-C glomerular filtration rate was decreased, and levels of plasma renin, aldosterone, and catecholamines were elevated. Renal ultrasonography and abdominal computed tomography showed a retroperitoneal prevertebral mass encasing both renal arteries and the left renal vein. The mass was partially resected laparoscopically, and the pathologic diagnosis was neuroblastoma. Findings on a simultaneous renal biopsy were unremarkable. The patient was treated with chemotherapy and several anti-hypertensive drugs, including an alpha blocker. Two months later, the mass had decreased in size and the proteinuria and hypertension were gradually improving. In an infant with abnormal renin-angiotensin system activation, severe hypertension, and nephrotic-range proteinuria, neuroblastoma can be considered in the differential diagnosis.

• Childhood Kidney Diseases
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• 제15권2호
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• pp.163-171
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• 2011

목적 : 요로 감염은 소아에서 흔한 세균 질환 중의 하나로 요로감염이 있는 소아의 약 1/3에서 방광요관역류가 발견되며, 배뇨방광요도조영술의 침습성인 특징이 있어 최근 $^{99m}Tc$-DMSA가 양성인 경우에서만 검사를 시행하는 경우가 많다. 본 연구에서는 $^{99m}Tc$-DMSA 양성인 영아 요로감염의 경우 배뇨방광요도조영술 시행 시기에 따른 방광요관역류 빈도를 알아보고자 하였다. 방법:${\bigcirc}{\bigcirc}$병원과 ${\bigcirc}{\bigcirc}$병원에서 요로감염으로 입원한 1개월 이상-1세 미만의 영아 총 134명을 대상으로 후향적 분석을 시행하였다. 배뇨방광요도조영술을 I군은 A병원에 요로감염으로 입원한 68명을 대상으로 진단 후 2주 이후 시행하였으며, II군은 B병원에 요로감염으로 입원한 66명을 대상으로 진단후 2주 미만에 시행하였다. 결과 : $^{99m}Tc$-DMSA 양성인 영아 요로감염에 있어 나이, 성별, 발열기간에 두 그룹 간의 통계학적인 차이를 보이지 않았다. 초음파 이상 소견은 I군에서 68명 중 28명으로 41.2%, II군에서는 66명 중 39명으로 59.1%의 빈도를 보이나 통계학적으로 유의한 차이를 보이지 않았다. 백혈구수와 C-반응 단백와 같은 진단검사, 그리고 양측성 방광요관역류와 중증 방광요관역류의 결과에 있어서도 두 그룹간의 통계학적인 차이를 보이지 않았다. I군 에서 초음파 이상 소견은 수신증, 증가된 에코음영, 수신증과 증가된 에코음영 동반 순으로 각각 53.6%, 25.0%, 7.1%의 빈도를 나타내었으며, II군에서 초음파 이상 소견은 증가된 에코음영, 수신증, 수신증과 요관 확장증 동반의 순으로 각각 38.5%, 25.2%, 12.8%의 빈도를 보였다. 요로감염으로 입원한 기간 동안 치료 용량의 항생제를 사용하면서 배뇨방광요도조영술을 시행한 II군에서는 검사 후 요로감염이 발생하지 않았으나 요로감염으로 진단되어 2주 이후 배뇨방광요도조영술을 시행한 I군 중 23.5%에서 검사 시행 후에 요로감염이 새로 발생하였다. 결론 : $^{99m}Tc$-DMSA 양성인 영아 요로감염의 경우 2주 미만 내 배뇨방광요도조영술을 시행하거나 2주 이후 배뇨방광요도조영술을 시행한 경우 검사 시기에 따른 역류발생빈도에 유의한 차이를 보이지 않았으나 치료 용량의 항생제를 투여 중인 입원기간 내 배뇨방광요도조영술을 시행하는 것이 검사 시행 후 요로감염의 발생률이 더 낮출 수 있다.

• 대한유전성대사질환학회지
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• 제18권2호
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• pp.62-67
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• 2018

헌터증후군이라고 불리는2형 뮤코다당증은 리소좀 축적 질환 중 하나로 이두로네이트 2-설파타제 효소의 기능 저하로 인해 여러 세포와 조직에 글리코사미노글리칸이 축적되어 여러 장기 기능에 부전을 초래하는 선천성 대사질환이다. 헌터증후군은 X 염색체의 장완(Xq28)에 위치하고 있는 IDS 유전자의 변이로 인하여 발생하며 최근까지 350개 이상의 변이가 보고되어 있다. 헌터증후군은 중추 신경계 증상 및 인지 기능 저하 정도에 따라 중증 표현형과 경증 표현형으로 나뉘는데, 표현형은 유전자 변이의 종류와 연관이 있기 때문에 변이를 아는 것은 추후 예후를 예측하는 데에 도움이 된다. 저자들은 최근 항경련제로 조절되지 않는 영아연축으로 내원한 7개월 남에서 엑솜 시퀀싱을 통하여 헌터 증후군을 진단하였다. 환아는 생후 2개월에 난청을 진단 받고 생후 3개월 경 영아연축으로 비가바트린, 프레드니솔론를 복용하였으나 영아연축이 호전되지 않았고, 이에 대한 검사로 시행한 엑솜시퀀싱 상 우연히 반접합체인 어머니로부터 유전된 c.851C>T (p.Pro284Leu) 변이가 발견되었다. 소변을 통한 뮤코다당증 선별 검사인 CPC 검사 결과는 생후 8개월까지 음성이었으나 생후 9개월에는 양성 결과를 보였고, 효소대체요법이 시작된 3개월 이후인 생후 12개월 째에는 다시 음성이 되었다. 생후 15개월인 현재까지 헌터증후군의 특징적인 얼굴 모습이나 간비비대, 관절 구축 등의 증상은 관찰되고 있지 않으며, 조절되지 않는 영아 연축으로 약물 치료를 지속하고 있다. 이를 통하여 환아의 신경학적 증상이 중증 헌터증후군의 임상 증상이 아닌 헌터증후군과 동반된 다른 질환에 의한 것으로 보인다. 저자들은 특징적인 증상이 나타나기 이전인 생후 7개월에 엑솜시퀀싱을 통하여 헌터증후군을 진단하였고 생후 9개월부터 효소대체요법을 시행하여 이에 대해 보고하는 바이다.

• 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.

• 대한약침학회지
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• 제4권2호
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• pp.35-47
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• 2001

Objectives : Through the literatures on the effets of Bufonis Venenum, we are finding out the clinical possibility and revealing the more effective to intractable diseases. Methods : We investigated the literatures of Oriental Medicine and experimental reports about Bufonis Venenum. Results : 1. Bufonis Venenum is made of bufonidae bufo bufo gargarizans cantor or bufo melanostictus schneider of white serum which secreted from parotid gland or dermato gland, and it is dried for using. 2. In oriental medicine, Bufonis Venenum has been mainly used on the tumors, cacanthrax and dermatic disease, and then it has been clinically used on infantile athrepsia, tetanus, sore throat, toothache, and so on. 3. The pharmacological effects of Bufonis Venenum are cardiotonic, respiration stimulation, depressor or vasopressor, topical anesthcsia, hallucination, striped muscle stimulation, antiasthmatic, antibacterial, antiinflammatory, anticancer, diuretic, immuno effects, etc. 4. Bufonis Venenum is largely divided in ether binding steroid compound, hydroxyl steroid compound, carboxyl or aldehyde steroid compound, indole compound, and adrenaline, cholesterole, etc. 5. Symptoms of Bufonis Venenum poisoning in digestive system are vommitig, abdominal pain, diarrhea, dehydration, in circulatory system are palpitation, shock, bradycardia, in nervous system are vertigo, somnolentia, muscle-tendon reflex weakness, and critical conditions to tissue necrosis and heart attack. 6. Ways to treat Bufonis Venenum poisoning include gastric irrigation with $0.2~0.5\%$ potassium permanganate fluid and atropine $0.5{\sim}1.0mg$ subcutaneous injection. From the chinese book of Bon Cho Gang Moke(本草綱目), if white serum of Bufonis Venenum enter the eyes, it happens the edema and pain. And then washed the eyes by juice of Lithospermi Radix(紫草) that the edema is removed. Conclusions and Discussion : The results from above literary studies show that prescriptions and Aqua-acupuncture of Bufonis Venenum could be clinically used to sedative, anticonvulsant, antibacterial, antiinflammatory, anticancer and topical ataralgesia. However it is expected that pharmacological and side effects of Bufonis Venenum are further studied.

• 한국콘텐츠학회:학술대회논문집
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• 한국콘텐츠학회 2018년도 춘계 종합학술대회 논문집
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• pp.409-410
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• 2018

Background: Asthma is one of the most common chronic diseases and can be affected by environmental factors. It has been reported that exposure to indoor environmental factors can cause infantile asthma during infancy and childhood, but the previous studies are not yet clear. Climate change has recently been shown to increase indoor mold. Exposure to fungi is known to be directly related to the development of aggravation. Methods: This study was conducted from July 20, 2016 to September 30, 2016. The study was conducted on 90 household with children under the age of 7 who attend atopy school. The questionnaire surveyed allergic symptoms, social and demographic characteristics, and environmental characteristics. Environmentally hazardous substances were measured such as temperature, humidity, fine dust, volatile organic compounds, formaldehyde, bacteria, fungus, house dust mite, endotoxin. Results: According to the survey results, 9 patients (10%) were treated with asthma, 6 (6.7%) were asthmatic patients during the past 12 months, and 4 patients (4.4%) were asthmatic patients during the past 12 months. There were statistically significant differences in the direct effect of smokers in the family (P=0.0328). High-filter vacuum cleaners collected $0.4222CFU/m^3$ in subjects without asthma, and $0.2222CFU/m^3$ in subjects with asthma. In addition, various results confirmed that asthma exacerbated by mold exposure. Conclusions: The results of this study suggest that exposure to fungal by infants and toddlers may play an important role in the development of asthma. In this study, we investigated the relationship between asthma and fungal concentration.

• Childhood Kidney Diseases
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• 제23권2호
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• pp.59-66
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• 2019

Background: Primary hyperoxaluria (PH), a rare inborn error of glyoxylate meta bolism causing overproduction of oxalate, is classified into three genetic subgroups: type 1-3 (PH1-PH3) caused by AGXT, GRHPR, and HOGA1 gene mutations, respectively. We performed a retrospective case series study of Korean pediatric patients with PH. Methods: In total, 11 unrelated pediatric patients were recruited and their phenotypes and genotypes were analyzed by a retrospective review of their medical records. Results: Mutational analyses revealed biallelic AGXT mutations (PH1) in nine patients and a single heterozygous GRHPR and HOGA1 mutation in one patient each. The c.33dupC was the most common AGXT mutation with an allelic frequency of 44%. The median age of onset was 3 months (range, 2 months-3 years), and eight patients with PH1 presented with end stage renal disease (ESRD). Patients with two truncating mutations showed an earlier age of onset and more frequent retinal involvement than patients with one truncating mutation. Among eight PH1 patients presenting with ESRD, five patients were treated with intensive dialysis followed by liver transplantation (n=5) with/without subsequent kidney transplantation (n=3). Conclusion: Most patients presented with severe infantile forms of PH. Patients with two truncating mutations displayed more severe phenotypes than those of patients with one truncating mutation. Sequential liver and kidney transplantation was adopted for PH1 patients presenting with ESRD. A larger nation-wide multicenter study is needed to confirm the genotype-phenotype correlations and outcomes of organ transplantation.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제25권6호
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• pp.441-452
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• 2022

Congenital diarrheal disorders (CDDs) with genetic etiology are uncommon hereditary intestinal diseases characterized by chronic, life-threatening, intractable watery diarrhea that starts in infancy. CDDs can be mechanistically divided into osmotic and secretory diarrhea. Congenital tufting enteropathy (CTE), also known as intestinal epithelial dysplasia, is a type of secretory CDD. CTE is a rare autosomal recessive enteropathy that presents with intractable neonatal-onset diarrhea, intestinal failure, severe malnutrition, and parenteral nutrition dependence. Villous atrophy of the intestinal epithelium, crypt hyperplasia, and irregularity of surface enterocytes are the specific pathological findings of CTE. The small intestine and occasionally the colonic mucosa include focal epithelial tufts. In 2008, Sivagnanam et al. discovered that mutations in the epithelial cell adhesion molecule (EpCAM, MIM# 185535) were the genetic cause of CTE (MIM# 613217). More than a hundred mutations have been reported to date. Furthermore, mutations in the serine peptidase inhibitor Kunitz type 2 (SPINT2, MIM# 605124) have been linked to syndromic CTE. In this study, we report the case of a 17-month-old male infant with congenital diarrhea. Despite extensive etiological workup, no etiology could be established before admission to our center. The patient died 15 hours after being admitted to our center in a metabolically decompensated state, probably due to a delay in admission and diagnosis. Molecular autopsy with exome sequencing revealed a previously reported homozygous missense variant, c.757G>A, in EpCAM, which was confirmed by histopathological examination.

• 대한유전성대사질환학회지
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• 제2권1호
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• pp.77-79
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• 2002

The urea cycle, consisting of a series of six enzymatic reactions, plays key roles to prevent the accumulation of toxic nitrogenous compound and synthesize arginine de novo. Five well characterized diseases have been described, resulting from an enzymatic defect in the biosynthesis of one of the normally expressed enzyme. This presentation will focus on two representative diseases; ornithine transcarbamylase(OTC) deficiency and citrullinemia(argininosuccinate synthetase deficiency). OTC deficiency is one of the most common inborn error of urea cycle, which is inherited in X-linked manner. We identified 17 different mutations in 20 unrelated Korean patients with OTC deficiency; L9X, R26P, R26X, T44I, R92X, G100R, R141Q, G195R, M205T, H214Y, D249G, R277W, F281S, 853 del C, R320X, V323M and 10 bp del at nt. 796-805. These mutations occur at well conserved nucleotide sequences across species or CpG hot spot. The L9X and R26X lead to the disruption of leader sequences, required for directing mitochondrial localization of the OTC precursor. Their phenotypes are severe, and neonatal onset. The G100R, R277W and V323M mutations were uniquely identified in patients with late onset OTC deficiency. The other genotypes are associated with neonatal onset. Out of 20 patients with OTC deficiency, only 6 patients are alive; two were liver transplanted, and normal in growth and development at 2, 4 years after transplantation respectively. Citrullinemia is an autosomal recessive disease, caused by the mutations in the argininosuccinate synthetase(ASS) gene. We identified in 3 major mutations in 11 unrelated Korean patients with citrullinemia; G324S, $IVS6^{-2}$ A to G, and 67 bp ins at nt 1125-1126. Among these, the 67 base pair insertion mutation is novel. The allele frequency of each mutation is; G324S(45%), IVS6-2 A to G(32%), and 67 base pair insertion(14%). All patients are diagnosed at neonatal or infantile age. Interestingly, two patients presented with stroke like episode. Out of 11 patients, 5 patients died. Among 6 patients alive, one patient was successfully liver transplanted.