• Title, Summary, Keyword: ARC syndrome

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Two Cases of ARC (Arthrogryposis, renal dysfunction and cholestasis) Syndrome (ARC (Arthrogryposis, renal dysfunction and cholestasis) 증후군 2례)

  • Hong, Ja-Hyeon;Lee, Chang-Han;Chung, Ki-Sup
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.3 no.1
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    • pp.110-115
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    • 2000
  • ARC (arthrogryposis multiplex congenita, renal dysfunction and cholestasis) syndrome was first described by Lutz-Richner and Landolt in 1973 and after then similar cases were scarcely reported worldwide. There's no reported case in Korea. It was first suggested that ARC syndrome was inherited by X-linked recessive trait but now it was thought to be inherited by autosomal recessive trait also. Most parents were consanguineous but some unconsanuineous parents were also reported. We report on 1 male and 1 female infant who had ARC syndrome from 2 unrelated families. They were born from unconsanguineous parents.

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A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

  • Lee, Min Ju;Suh, Chae Ri;Shin, Jeong Hee;Lee, Jee Hyun;Lee, Yoon;Eun, Baik-Lin;Yoo, Kee Hwan;Shim, Jung Ok
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.22 no.6
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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.

Clinical Characteristics of Arthrogryposis, Renal Tubular Dysfunction, Cholestasis(ARC) Syndrome in Korea (ARC(Arthrogryposis, Renal Tubular Dysfunction, Cholestasis) 증후군의 발병양상에 관한 연구)

  • Lee Soon Min;Kim Ji Hong;Lee Jae Seung;Han Suk Joo
    • Childhood Kidney Diseases
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    • v.9 no.2
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    • pp.222-230
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    • 2005
  • Purpose : ARC syndrome refers to an association of arthrogryposis, renal tubular dysfunction, and cholestasis. The VPS33B gene was recently identified as the causative gene. So far, 41 cases of ARC syndrome have been reported worldwide, and it has rarely been reported in Korea. This study was conducted to report the clinical findings of seven ARC syndrome cases in Korean children, focusing especially on renal tubular dysfunction. Methods : The hospital records of 7 cases diagnosed as ARC syndrome at Severance Hospital between Mar. 1995 and Aug. 2005 were reviewed and analyzed. Results : Of the 7 cases, 4 were boys and 3 were girls. Six patients(85$\%$) were born with normal birth weight at term, and one was born at preterm. All cases presented with cholestasis and severe jaundice. According to the type of arthrogryposis described by Brown et al, type 3 and 4 were found in 2 patients and type,6, 7, and the undistributed type in one patient respectively. Other associated clinical findings were as follows : failure to thrive in 6(85$\%$), lax skin in 5(71$\%$), and gray platelet syndrome in 4(57$\%$). Urine analysis revealed 6 cases(85$\%$) with proteinuria, 3(43$\%$) with hematuria, 5(71$\%$) with glycosuria, 2(29$\%$) with phosphaturia and 2(29$\%$) with calciuria. Serum electrolytes showed 4 cases(57$\%$) with hyponatremia, 3(43$\%$) with hypokalemia, and 1(14$\%$) with creatinine elevation. Renal tubular dysfunctions were diagnosed as renal tubular acidosis in 6 cases(85$\%$), nephrogenic diabetes insipidus in 2(29$\%$), and Fanconi syndrome in 2(29$\%$). During the follow-up period, 2(29$\%$) had no treatment, 5(85$\%$) had continuous supplementation to correct the electrolyte imbalance and acidosis, and 1(14$\%$) had dialysis. Only one patient had a family history of ARE syndrome in a sibling. Four cases(57$\%$) were diagnosed at the mean age of 8.2 months, and one case was lost during follow-up. Ages of the survived 2 cases were 13 and 25 months, respectively. Conclusion : The rare disease of ARC syndrome Is associated with severe renal dysfunction. However, this study revealed that the renal manifestation of ARC syndrome in Korean children is relatively mild and survival rate is higher than that of previous studies. Contrary to previous reports, this study showed that familial cases are rare and sporadic occurence is possible in Korea. Thus, the diagnosis of this syndrome requires a careful evaluation of the venal function in cases of congenital arthrogryposis, and a mandatory genetic counseling of affected family for prevention of familial occurance. (J Korean Soc Pediatr Nephrol 2005;9:222-230)

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Anti-obesity Effects of Capsule-filled Cheonggukjang Added with Arrowroot (Pueraria thunbergiana) Extracts in ob/ob Mice (칡(Pueraria thunbergiana)추출물 청국장 캡슐의 ob/ob Mice에 대한 항비만 효과)

  • Kim, Kil-Soo;Hong, Joo-Heon;Kim, Dae-Ik
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.41 no.6
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    • pp.782-789
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    • 2012
  • This study was designed to evaluate the anti-metabolic syndrome effects of capsule-filled cheonggukjang (CGJ) added with arrowroot (Pueraria thunbergiana) extracts on body weight, adiposity and lipid metabolism in ob/ob mice. Experimental groups were normal control group (NC: basal diet), positive control group (PC: 2% CGJ), CGJ added with arrowroot extracts group (AR: 2% arrowroot in CGJ), and capsule-filled CGJ added with arrowroot extracts group (ARC: 2% arrowroot CGJ capsule). Each group was fed experimental diet for 10 weeks. Final body weight gain and atherogenic index were significantly lower in the ARC than NC group. Serum levels of total cholesterol, LDL-cholesterol, and triglycerides, blood glucose and atherogenic index were significantly lower in the ARC than NC group. Furthermore, fatty liver and regional lipid accumultion in ob/ob mice were inhibited in the ARC group. The hepatic activities of superoxide dismutase, catalase and glutathione S-transferase were significantly higher in the ARC than NC group. Therefore, the anti-matabolic syndrome effects of the ARC group were higher than the AR group. In conclusion, these results indicated that CGJ added with arrowroot mediates its anti-obesity effects in ob/ob mice by improving lipid metabolism and antioxidant enzyme.

Survey of porcine reproductive and respiratory syndrome (PRRS) on pig farms in Andong and Hapcheon region (안동과 합천 지역 양돈장의 돼지생식기호흡기증후군(PRRS) 조사)

  • Kang, Hye-Won;Oh, Yooni;Song, Jae-Young;Choi, Eun-Jin
    • Korean Journal of Veterinary Service
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    • v.37 no.1
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    • pp.11-18
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    • 2014
  • Porcine reproductive and respiratory syndrome (PRRS) causes a significant economic loss in the swine industry not only in Korea but also all over the world. Andong and Hapcheon region were selected for Area Regional Control (ARC) programme to reduce the shedding of PRRS virus (PRRSV) and decrease PRRS outbreaks. Before conducting the PRRS ARC, sera of pigs were tested for both antibody using ELISA and antigen using RT-PCR, then phylogenetic classifications was analysed. Pigs of 138/275 (50.2%) in Andong and 352/425 (82.8%) in Hapcheon were seropositive. Also, the RT-PCR results revealed that 27 heads (8.2%) in Andong, 112 heads (22.0%) in Hapcheon were positive for PRRSV antigen. PRRSVs were mainly detected between the ages of 40 to 60 days. PRRSV ORF5 regions were used to determine genetic clusters based on previous report. All PRRSV type I detected in both Andong and Hapcheon were classified as Cluster I. The PRRSV type II isolates in Andong were assorted to Cluster II, whereas the PRRSV type II isolates in Hapcheon were the viruses were unassembled into any cluster except one identified to Cluster III. Phylogenetic analysis indicated that new clusters of PRRSVs type II were prevalent in Hapcheon.

A Documentary Study on Herb, Dmgs used for Vitiligo -With an emphasis on classifying kinds, excess and weakness syndrome, the changes of medical methods and factors by each epoch mentioned in the relative documentary records (백반증(白斑症) 사용약물(使用藥物)에 대한 문헌적(文獻的) 고찰(考察) -관련문헌(關聯文獻)에 나타난 백반증(白斑症)의 상용약물(常用藥物) 종류(種類), 허실(虛實), 시대(時代), 원인별(原因別) 분류(分類)를 중심(中心)으로-)

  • Lee, Sun-Dong
    • The Journal of Korean Medicine
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    • v.16 no.2
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    • pp.44-61
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    • 1995
  • Arranging 63 kinds of separate volumes and papers published on Oriental medicine, I could get the result as follows. 1. The herbs for internal application used commonly in vitiligo are 155 kinds totally. The herbs for external application are 67 kinds. The herbs for external and internal both application examined into 23 sorts. 2. Herbs for weakness syndrome in vitiligo are 49 kinds. Another type, excess syndrome is 105 sorts, the'latter is roughly twice as many as the former. 3. It is as follows that the results of study in relations to kinds, factors, and medical treatments of herbs about vitiligo in and out of the country with the division of former times to 1900, 1901 to 1980, 1981 to 1990, and 1991 to the latest day. In comparative study of inner and outer of thc country about factors and medical treatments of vitiligo in chronicle classification, its factors in the internal documents are classified by outside factors. Although there arc the differences of factors by each epoch, however, the factors of vitiligo according to external documents are blood stasis(血熱), deficiency of um of the liver and kidneys(肝腎陰虛), deficiency of blood(血虛), excess of exhaustion(勞倦過多) etc. Moreover, the medical treatment is more diverse and the differences by each epoch as to the medical treatment is also put down more saliantiy than in internal documents. 4. In comparison with herbs in experimental and no experimental documents, herbs applied for weakness syndromes in experimental method are 40 kinds totally. The herbs in no experimental methods are 35 kinds. The herbs used by experimental method are 65 kinds. The common herbs for excess syndrome by no experimental method are 78 kinds. We can see comparable difference from kinds of herbs used by experimental method. In brief, there are the differences classified by each epoch in Oriental medicine for treatment. Especially one of the most important feature, the frequency in use of weakness syndrome herbs has increased more than that of excess syndrome herbs. In external documents (china) and experimental study, generally the differences of common herbs and factors have disappeared through many experimentsitudy. The classification of its factors have been fractionalized clinically. Besides, in Western medicine and Orienal medicine, vitiligo tends to be prescribed not to simple skin disease but a mental and physical disease, a whole body and an internal disease.

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A Case of Metal Fume Fever Associated with Copper Fume in a Welder (용접공에서 발생한 구리흄에 의한 금속열 1례)

  • Lim, Hyun-Sul;Cheong, Hae-Kwan
    • Journal of Preventive Medicine and Public Health
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    • v.31 no.3
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    • pp.414-423
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    • 1998
  • Metal fume fever has been known as an occupational disease is induced by intense inhalation of fresh metal fume with a particle size smaller than $0.5{\mu}m\;to\;1{\mu}m$. The fumes originate from heating metals beyond their boiling point, as happens, for example, in welding operations. Oxidation usually accompanies this process. In most cases, this syndrome is due to exposure to zinc oxide fumes; however, other metals like copper, magnesium, cadmium, manganese, and antimony are also reported to produce such reactions. Authors report a case of metal fume fever suspected to be associated with copper fume inhalation. The patient was a 42-year-old male and was a smoker. He conducted inert gas tungsten arc welding on copper-coated materials without safety precautions such as a protective mask and adequate ventilation. Immediately after work, he felt metallic taste in his mouth. A few hours after welding, he developed headache, chilling sensation, and chest discomfort. He also complained of myalgia, arthralgia, feverish sensation, thirst, and general weakness. Symptoms worsened after repeated copper welding on the next day and subsided gradually following two weeks. Laboratory examination showed a transient increase of neutrophil count, eosinophilia, elevated erythrocyte sedimentation rate, and positive C-reactive proteinemia. Blood and urine copper level was also increased compared to his wife. Before this episode, he experienced above complaints several times after welding with copper materials but welding of other metals did not produce any symptoms. It was suggested that copper fume would have induced metal fume fever in this case. Further investigations are needed to clarify their pathogenic mechanisms.

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