{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T11:44:08Z","timestamp":1698234248920},"reference-count":13,"publisher":"Akademiai Kiado Zrt.","issue":"2","license":[{"start":{"date-parts":[[2022,1,9]],"date-time":"2022-01-09T00:00:00Z","timestamp":1641686400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["akjournals.com"],"crossmark-restriction":true},"short-container-title":["OH"],"published-print":{"date-parts":[[2022,1,9]]},"abstract":"<jats:p><jats:bold>\u00d6sszefoglal\u00f3.<\/jats:bold> Az arthrogryposis\u2013renalis diszfunkci\u00f3\u2013cholestasis\n                    (ARC) szindr\u00f3ma igen rossz progn\u00f3zis\u00fa autoszom\u00e1lis recessz\u00edv k\u00f3rk\u00e9p. A h\u00e1rom\n                    vezet\u0151 t\u00fcnethez t\u00e1rsulhat k\u00f6zponti idegrendszeri \u00e9rintetts\u00e9g, sikets\u00e9g,\n                    cardiovascularis anom\u00e1lia (pitvari \u00e9s kamrai s\u00f6v\u00e9nyhi\u00e1ny),\n                    thrombocytafunkci\u00f3-zavar, rekurrens szepszisek, ichthyosis, valamint\n                    s\u00falyfejl\u0151d\u00e9sben val\u00f3 elmarad\u00e1s. A h\u00e1romnapos \u00fajsz\u00fcl\u00f6ttet neuromuscularis\n                    betegs\u00e9g gyan\u00faja miatt vett\u00fck \u00e1t a sz\u00fcl\u00e9szeti int\u00e9zm\u00e9nyb\u0151l. Fizik\u00e1lis vizsg\u00e1lat\n                    sor\u00e1n pes equinovarust \u00e9s hypotrophi\u00e1s k\u00fcllemet tapasztaltunk. K\u00e9thetes kor\u00e1ban\n                    s\u00falyos tubulopathia, valamint cholestasis igazol\u00f3dott norm\u00e1lis\n                    gamma-glutamil-transzfer\u00e1z-szint mellett. A perif\u00e9ri\u00e1s v\u00e9rkenet vizsg\u00e1lata sor\u00e1n\n                    abnorm\u00e1lis morfol\u00f3gi\u00e1j\u00fa thrombocyt\u00e1k \u00e1br\u00e1zol\u00f3dtak. S\u00falygyarapod\u00e1st komplex\n                    fel\u00e9p\u00edtett enteralis \u00e9s parenteralis t\u00e1pl\u00e1l\u00e1s seg\u00edts\u00e9g\u00e9vel sem siker\u00fclt el\u00e9rni.\n                    H\u00e1rom h\u00f3napos kor\u00e1ra a gyermek s\u00falya 15%-kal a sz\u00fclet\u00e9si s\u00falya alatt volt. A\n                    k\u00f3rk\u00e9p sz\u00f6v\u0151dm\u00e9nyek\u00e9nt ism\u00e9tl\u0151d\u0151 bakteri\u00e1lis v\u00e9r\u00e1ramfert\u0151z\u00e9s s\u00falyosb\u00edtotta az\n                    \u00e1llapot\u00e1t. Az \u00fajsz\u00fcl\u00f6tt klinikai k\u00e9pe az ARC-szindr\u00f3m\u00e1nak felelt meg. A k\u00f3roki\n                    g\u00e9nek szekven\u00e1l\u00e1sa sor\u00e1n a <jats:italic>VPS33B<\/jats:italic>-g\u00e9nben homozig\u00f3ta\n                    c.498+1G&gt;T vari\u00e1ns igazol\u00f3dott, mely igazolja a betegs\u00e9g fenn\u00e1ll\u00e1s\u00e1t. Orv\n                    Hetil. 2022; 163(2): 74\u201378.<\/jats:p>\n                <jats:p><jats:bold>Summary.<\/jats:bold> Arthrogryposis\u2013renal dysfunction\u2013cholestasis (ARC) syndrome\n                    is an autosomal recessive multisystem disorder that typically presents with\n                    arthrogryposis, renal tubular leak and neonatal cholestatic jaundice. It can be\n                    accompanied by nervous system abnormalities, deafness, structural cardiac\n                    defects, abnormal platelet morphology, recurrent sepsis, ichthyosis and failure\n                    to thrive. The three-day-old neonate was admitted for a suspected neuromuscular\n                    disorder. On examination, clubfoot, jaundice and hypotonia were found.\n                    Laboratory evaluation revealed tubulopathy and cholestasis with normal\n                    gamma-glutamyl transferase level. Peripheral blood smear evaluation revealed\n                    abnormally giant platelets. Despite the combined enteral and parenteral\n                    nutrition, the infant experienced severe failure to thrive. The phenotype of the\n                    presented neonate is consistent with ARC syndrome. Sequencing of the causal\n                    genes revealed a homozygous consensus splice site <jats:italic>VPS33B<\/jats:italic>\n                    mutation (c.498+1G&gt;T), confirming the clinical diagnosis. Orv Hetil. 2022;\n                    163(2): 74\u201378.<\/jats:p>","DOI":"10.1556\/650.2022.32312","type":"journal-article","created":{"date-parts":[[2022,1,18]],"date-time":"2022-01-18T22:02:46Z","timestamp":1642543366000},"page":"74-78","update-policy":"http:\/\/dx.doi.org\/10.1556\/policypage.crossmark.crossref.1","source":"Crossref","is-referenced-by-count":0,"title":["Arthrogryposis\u2013renalis diszfunkci\u00f3\u2013cholestasis szindr\u00f3ma"],"prefix":"10.1556","volume":"163","author":[{"given":"\u00c1gnes","family":"Mik\u00f3","sequence":"first","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, I. Gyermekgy\u00f3gy\u00e1szati Klinika Budapest, B\u00f3kay J. u. 53\u201354., 1083"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Szendile","family":"L\u00f3th","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, I. 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Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nat Genet. 2004; 36: 400-404.","journal-title":"Nat Genet"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"144","DOI":"10.1186\/s12882-018-0926-1","article-title":"Severe renal Fanconi and management strategies in arthrogryposis-renal dysfunction-cholestasis syndrome: a case report","volume":"19","author":"3 Rosales","year":"2018","unstructured":"3 Rosales A, Mhibik M, Gissen P, et al. Severe renal Fanconi and management strategies in arthrogryposis-renal dysfunction-cholestasis syndrome: a case report. BMC Nephrol. 2018; 19: 144.","journal-title":"BMC Nephrol"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1097\/MPH.0b013e3181c3a8d0","article-title":"Agranular platelets as a cardinal feature of ARC syndrome","volume":"32","author":"4 Kim","year":"2010","unstructured":"4 Kim SM, Chang HK, Song JW, et al. Agranular platelets as a cardinal feature of ARC syndrome. J Pediatr Hematol Oncol. 2010; 32: 253-258.","journal-title":"J Pediatr Hematol Oncol"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1186\/s13052-014-0077-3","article-title":"Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features","volume":"40","author":"Zhou Y","year":"2014","unstructured":"5 Zhou Y, Zhang J. Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features. Ital J Pediatr. 2014; 40: 77.","journal-title":"Ital J Pediatr"},{"key":"ref5","doi-asserted-by":"publisher","unstructured":"6 Taha D, Khider A, Cullinane AR, et al. A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth. Am J Med Genet A. 2007; 143A: 2835-2837.","DOI":"10.1002\/ajmg.a.32051"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"396","DOI":"10.1007\/s00439-006-0232-z","article-title":"Clinical and molecular genetic features of ARC syndrome","volume":"120","author":"7 Gissen","year":"2006","unstructured":"7 Gissen P, Tee L, Johnson CA, et al. Clinical and molecular genetic features of ARC syndrome. Hum Genet. 2006; 120: 396-409.","journal-title":"Hum Genet"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1007\/BF00862505","article-title":"Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea - a new syndrome","volume":"4","author":"8 Deal","year":"1990","unstructured":"8 Deal JE, Barratt TM, Dillon MJ. Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea - a new syndrome. Pediatr Nephrol. 1990; 4: 308-313.","journal-title":"Pediatr Nephrol"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1016\/j.jpeds.2005.10.005","article-title":"VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype","volume":"148","author":"9 Bull","year":"2006","unstructured":"9 Bull LN, Mahmoodi V, Baker AJ, et al. VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype. J Pediatr. 2006; 148: 269-271.","journal-title":"J Pediatr"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1097\/00019605-200510000-00005","article-title":"Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review","volume":"14","author":"10 Abu-Sa'da","year":"2005","unstructured":"10 Abu-Sa'da O, Barbar M, Al-Harbi N, et al. Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review. Clin Dysmorphol. 2005; 14: 191-196.","journal-title":"Clin Dysmorphol"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1136\/adc.85.5.415","article-title":"ARC syndrome: an expanding range of phenotypes","volume":"85","author":"11 Eastham","year":"2001","unstructured":"11 Eastham KM, McKiernan PJ, Milford DV, et al. ARC syndrome: an expanding range of phenotypes. Arch Dis Child. 2001; 85: 415-420.","journal-title":"Arch Dis Child"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1002\/uog.2822","article-title":"Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene","volume":"28","author":"12 Sanseverino","year":"2006","unstructured":"12 Sanseverino MT, de Souza CF, Gissen P, et al. Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene. Ultrasound Obstet Gynecol. 2006; 28: 233-234.","journal-title":"Ultrasound Obstet Gynecol"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1186\/s13023-018-0868-5","article-title":"Challenges of palliative care in children with inborn metabolic diseases","volume":"13","author":"13 Hoell","year":"2018","unstructured":"13 Hoell JI, Warfsmann J, Distelmaier F, et al. Challenges of palliative care in children with inborn metabolic diseases. 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