• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제3권1호
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• pp.110-115
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• 2000

저자들은 비근친 부모에게서 출생하여 신생아담즙 정체증, 선천성 다발성 관절 구축증 및 원위형 신세뇨관성 산증 소견을 보인 1례의 남아 및 1례의 여아에서 ARC증후군을 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• 대한수의학회지
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• 제20권1호
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• pp.65-78
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• 1980

From November 1978 to April 1979, there occurred among cows many cases of abortion, premature birth, stillbirth and congenital arthrogryposis or hydranencephaly in Kyongki-do province in Korea. Epizootics recurred between February and May, 1980 in the same area. Six calves born at 8 or 10 months of gestation were examined by means of pathology and one of the calves was examined by serological test. And a survey on local occurrence of the disease in other than Kyongki-do province, was conducted. 1. At necropsy, some calves showed distinct lesions such deformities of the limbs and the vertebrae as arthrogryposis or scoliosis. Other calves revealed arthrogryposis and partial or total deficience of the cerebral hemispheres with hydranencephaly. 2. In the calves with deformities the skeletal muscle showed histologically severe hypoplasia of the muscle fibers with cellular infiltration. In the central nervous system of the calves with hydranencephaly there were minute cystic cavitation and the decrease of ventral horn cells of the spinal cord in the number. 3. Similar epizootics were also observed in the same season in the other several provinces such as Chungoheongnam-do, Kangwon-do and Jeonrabuk-do. 4. Anti-Akabane virus antibody was detected in precolostral blood from the calf with arthroglposis and hydranencephaly syndrome. 5. On these findings of the disease it was diagnosed as Akabane disease presenting the first report on the epizootics in Korea.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제22권6호
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• pp.581-587
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• 2019

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystemic disease that is associated with the liver, kidney, skin, and central nervous and musculoskeletal systems. ARC occurs as a result of mutations in the VPS33B (Vacuolar protein sorting 33 homolog B) or VIPAR (VPS33B interacting protein, apical-basolateral polarity regulator) genes. A female infant presented with neonatal cholestasis with a severe clinical outcome. She was diagnosed with ARC syndrome using targeted exome sequencing (TES). Exome sequencing revealed compound heterozygous mutations, c.707A>T and c.239+5G>A, in VPS33B, where c.707A>T was a novel variant; the resultant functional protein defects were predicted via in silico analysis. c.239+5G>A, a pathogenic mutation that affects splicing, is found in less than 0.1% of the general population. Invasive techniques, such as liver biopsies, did not contribute to a differential diagnosis of ARC syndrome; thus, early TES together with clinical presentations constituted an apparently accurate diagnostic procedure.

• Childhood Kidney Diseases
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• 제9권2호
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• pp.222-230
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• 2005

목 적 : ARC 증후군은 관절구축, 신세뇨관 장애 및 담즙 정체의 동반으로 진단되며, 윈인 유전자(VPS33B)가 확인 된 선천성 질환으로, 전세계적으로 41례 정도가 보고되었고, 국내 보고는 거의 없는 매우 드문 질환이다. 저자들은 신세뇨관 기능부전을 중심으로 7례의 ARC 증후군의 임상 경과를 고찰하여 본질환의 진단에 도움이 되고자 하였다. 방 법 : 1995년 3월부터 2005년 8월까지 세브란스병원에 내원한 임상적 진단기준을 만족하는 7례의 ARC 증후군을 대상으로 후향적 조사를 시행하였다. 결 과 : 대상 환아 남, 녀 비는 4:3이었으며, 출생당시 정상체중아가 6례(85$\%$), 미숙아는 1례(14$\%$)였다. 7례 모두 심한 황달을 동반하는 담즙 정체를 보였으며, Brown 등에 의한 관절구축의 분류 기준상 type III 2례, type IV 2례 type VI 1례, type VII 2례, 미분류 1례(14$\%$)였다. 기타 임상양상은 성장장애 6례(85$\%$), 늘어지고 거친 피부 5례(71$\%$), 거대혈소판 4례(57$\%$), 청력장애 2례(29$\%$)였다. 소변 검사상 단백뇨 6례(85$\%$), 혈뇨 3례(43$\%$), 당뇨 5례(71$\%$), 인산뇨 2례(29$\%$), 칼슘뇨 2례(29$\%$)였다. 전해질 검사상 저나트륨혈증 4례(57$\%$), 저칼륨혈증 3례(43$\%$)였고, 혈중 크레아틴치 상승은 1례(14$\%$)에서 관찰되었다. 신세뇨관 기능부전은 신세뇨관 산증 6례(85$\%$), 신성 요붕증 2례(29$\%$), 판코니 증후군 2례(29$\%$)로 나타났다. 치료는 단순관찰 2례(29$\%$), 지속적 전해질 보충 및 산증 교정 5례(85$\%$), 신대체요법 1례(14$\%$)였다. 가계도 분석에서 가계내 발병은 1례에서만 확인되었다. 추적관찰 결과 사망 4례(57$\%$), 생존 2례(29$\%$), 추적관찰 중단 1례(14$\%$)로 사망 환아는 평균 8.1개월에 사망하였으며, 생존 환아의 평균연령은 11.8개월이었다. 결 론 : 전세계적으로 드물게 보고되고 있는 ARC 증후군은 다양한 양상의 신세뇨관 기능 부전을 동반하고 있으나, 본 연구에서는 신세뇨관 기능 손상 정도가 상대적으로 미약하며, 생존 기간도 높은 경향을 나타내었다. 또한 국외 보고와는 달리 대상 환아의 가계 내 동일질환의 발생례가 적어 산발적인 유전자 돌연변이에 의한 발병 가능성도 있으나, 예후가 극히 불량한 본 질환의 철저한 차단을 위하여 무엇보다도 환자 발생 가계 내에서의 정확한 산전 유전자 진단이 요구되는 바이다.

• 한국동물위생학회지
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• 제14권1호
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• pp.19-26
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• 1991

A considerably high rate of abnormal deliveries of unknown etiology was observed among dairy cattles from November 1988 to February 1989 and Korean native tattles from January to April 1990. The abnormal deliveries consisted of abortions, stillbirths and calf deformities refers to as congenital arthrogryposis hydranencephaly (AH )syndrome. In order to know the level of Akabane antibody of dairy cattle raised in Kyungbuk province, serum neutralization test was conducted with Akabane virus(OBE-1 strain) and HmLu(Hamster lung) cell line. The results were summarized as follows. 1. During 4 months(Nov. 1988-Feb. 1989), abortion (3 heads), stillbirth(1 head) and congenital abnormalities(13 heads) of newborn were occurred in 17 dairy cattles raised in Kyungbuk province. 2. During 4 months(Jan.-Apr.1990), stillbirth(2 heads) and congenital deformities (13 heads) of newborn were occurred in 15 Korean native tattles raised in Kyungbuk province. 3. In Fev, and Apr. 1990, 1,005 dairy cattles at 99 farms were investigated on the actual condition of possessing Akabane antibody. The result was that 1,000 heads (99.9%) in 1,005 dairy cattles reacted as positive condition in Akahane antibody. The antibody titer was from 4 to over 256. 4. 189 heads (18.8%) of 1,005 dairy cattles werw below antibody titer 8 and 816 heads (81.2%) were over 16. 5. Akabane antibody titer of east coast legions(Pohang Yeongil etc) was all over 16, that of internal legions (Yeongiu, Andong. etc) was relatively low, The result suggest that the vaccination for Akabane disease will be unnecessary for the time being because of possessing higher antibody titer reaction except the newly introduced cattle and Akabane virus was widely disseminated in kyungbuk province during the summer months in 1987 or 1988.

• Clinical and Experimental Pediatrics
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• 제46권8호
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• pp.826-830
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• 2003

본 저자들은 출생 후 늘어지며 경구 수유를 잘 하지 못하는 증상으로 본원에서 ARCI 증후군 진단을 받고 경구용 bicarbonate, 1,25-dihydroxycholecalciferol, 비 경구 수유와 폐렴 치료를 받았으나 사망한 1례를 경험하여 이를 보고하는 바이다. 다발성 관절 구축, 신세뇨관성 산증, 담즙 정체성 간염은 ARCI 증후군의 기본적인 임상 증상이기는 하나 이들이 모두 혹은 동시에 나타나는 것은 아니므로 신생아 시기에 늘어지며 관절구축을 보이고 산증이 있는 경우 주의 깊은 추적 관찰을 통해 진단을 내리도록 해야할 것이다. 또한 이들은 성장 부진과 잦은 감염에 시달리게 되므로 일찍부터 비관 삽입 등을 통한 영양이나 감염의 증후를 잘 관찰함으로써 적절한 성장을 할 수 있도록 도와야겠다.

• Journal of Genetic Medicine
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• 제8권2호
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• pp.125-129
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• 2011

저자들은 고도근시, 망막이상, 납작한콧등, 구개열, 하악후퇴, 소하악증, 저신장, 양쪽 손가락의 관절구축증(arthrogryposis)이 있고, 방사선 검사상 불규칙한 대퇴골과 경골의 골단면, 척추골단이형성증이 보이는 Stickler 증후군 환자 1례에서 COL2A1 유전자의 새로운 돌연변이를 국내 최초로 증명하였기에 문헌고찰과 함께 보고하는 바이다.

• 한국동물위생학회지
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• 제14권2호
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• pp.154-158
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• 1991

To investigate the Akabane antibody in the cattle with the serological test in Chung Chung Buk Do from May to Nov 1191. The result are summarized as follows. 1. Breed in cattle reacted as positive condition in Akabane antibody 76 heads(42%) in 180 cattles reacted as positive condition in Akabane antibody, 23 heads(51%) in 45 Korea native cattle reacted as positive condition in Akabane antibody. 2. During 5, 9, 10, 11 month, Akabane antibody in cattle is over 45%. 3. Less of 2 years old and over 4 years old cattle are Akabane antibody in cattle is over 40%. 4. The relation of titer of 2 folds of dilution HA and 10 folds of dilution TCID$_{50}$ was same relation.n.

• Clinical and Experimental Pediatrics
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• 제50권9호
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• pp.835-840
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• 2007

Any infant noted to be jaundiced at 2 weeks of age should be evaluated for cholestasis with measurement of total and direct serum bilirubin. With the insight into the clinical phenotype and the genotype-phenotype correlations, it is now possible to evaluate more precisely the neonate who presents with conjugated hyperbilirubinemia. Testing should be performed for the specific treatable causes of neonatal cholestasis, specifically sepsis, galactosemia, tyrosinemia, citrin deficiency and endocrine disorders. Biliary atresia must be excluded. Low levels of serum gamma-glutamyl transferase in the presence of cholestasis should suggest progressive familial intrahepatic cholestasis type 1, 2, or arthrogryposis- renal dysfunction-cholestasis syndrome. If the serum bile acid level is low, a bile acid synthetic defect should be considered. Molecular genetic testing and molecular-based diagnostic strategies are in evolution.

• 한국수정란이식학회지
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• 제30권4호
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• pp.341-344
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• 2015

A 4-day-old, male Poodle dog was presented with dull, depressed and exhausted activity after the birth. On physical examination, the puppy showed arthrogryposis, muscular atrophy and no movement of hindlimbs. Palpation on dorsum revealed an absence of lumbar and sacral vertebrae. On prenatal and postnatal radiography, lumbar vertebrae, sacrum and coccygeal vertebrae were not visualized. On ultrasonography, bilateral kidney and urinary bladder were observed. On computed tomography, there were no apparent abnormalities in the forelimbs, cervical vertebrae or head, while lumbar vertebrae, sacrum and coccygeal vertebrae were not observed. At necropsy examination, the liver, stomach, intestine, kidney and urinary bladder were normal. This congenital anomaly was consistent with Perosomus elumbis. Perosomus elumbis in dogs is a rare condition of unknown etiology. In this report, Perosomus elumbis was evaluated with radiography, ultrasound and computed tomography.