{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T04:21:06Z","timestamp":1790914866081,"version":"4.1.0"},"reference-count":24,"publisher":"Walter de Gruyter GmbH","issue":"2","license":[{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,5,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Autosomal dominant polycystic kidney disease (ADKPD) is the most frequent type of polycystic kidney disease. It is inherited through family members, with an incidence of approximately 1:400 to1:1000.Typically, individuals with ADKPD are identified between their fourth and fifth decade of life. ADKPD occurs as a results of mutation in one of the two genes,\n                    <jats:italic>PDK1<\/jats:italic>\n                    and\n                    <jats:italic>PDK2<\/jats:italic>\n                    .Patients with PKD1 experience renal failure at an earlier onset than those with PKD2. We report on a 2 year-old-boy with hepatosplenomegaly and signs of portal hypertension. Both kidneys appeared normal until the age of 8, when multiple cysts developed, this being typical of ADKPD. Suspecting ADKPD, we performed whole exome sequencing, thereby confirming a mutation of c.6730 673del p.(Ser 2244Hisfs*17). The investigations of all family members found other individuals affected by ADKPD.\n                  <\/jats:p>","DOI":"10.2478\/bjmg-2022-0024","type":"journal-article","created":{"date-parts":[[2023,5,3]],"date-time":"2023-05-03T17:18:47Z","timestamp":1683134327000},"page":"91-95","source":"Crossref","is-referenced-by-count":6,"title":["Congenital Hepatic Fibrosis as an Early Sign of Presentation of ADPKD"],"prefix":"10.2478","volume":"25","author":[{"given":"L.","family":"Sila","sequence":"first","affiliation":[{"name":"Pediatric department, \u201cMother Teresa\u201d Hospital - Tirana , Tirana , Albania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Velmishi","sequence":"additional","affiliation":[{"name":"Service of pediatric gastroenterology, \u201cMother Teresa\u201d Hospital - Tirana , Tirana , Albania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Saraci","sequence":"additional","affiliation":[{"name":"Service of pediatric radiology \u201cMother Teresa\u201d Hospital - Tirana , Tirana , Albania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Dervishi","sequence":"additional","affiliation":[{"name":"Service of pediatric gastroenterology, \u201cMother Teresa\u201d Hospital - Tirana , Tirana , Albania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Sila","sequence":"additional","affiliation":[{"name":"Service of pediatric anesthesiology \u201cMother Teresa\u201d Hospital - Tirana , Tirana , Albania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Shtiza","sequence":"additional","affiliation":[{"name":"Service of pediatric nephrology \u201cMother Teresa\u201d Hospital - Tirana , Tirana , Albania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Cullufi","sequence":"additional","affiliation":[{"name":"Service of pediatric gastroenterology, \u201cMother Teresa\u201d Hospital - Tirana , Tirana , Albania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2023,5,2]]},"reference":[{"key":"2026042718410126340_j_bjmg-2022-0024_ref_001","unstructured":"Kerr DN, Harrison CV, Sherlock S, Walker RM (1961) Congenital hepatic fibrosis. Q J Med 30: 91\u2013117."},{"key":"2026042718410126340_j_bjmg-2022-0024_ref_002","doi-asserted-by":"crossref","unstructured":"Zhu B, Du Z, Wang Z, Li Y, Zhang J, Zhu H (2020) Congenital hepatic fibrosis in children and adults: clinical manifestations, management, and outcome\u2014 case series and literature review. Gastroenterol Res Pract 2020: 1\u20139.","DOI":"10.1155\/2020\/8284274"},{"key":"2026042718410126340_j_bjmg-2022-0024_ref_003","unstructured":"Sommerschild HC, Langmark F, Maurseth K. Congenital hepatic fibrosis: report of two new cases and review of the literature. Surgery 1973; 73: 53-8."},{"key":"2026042718410126340_j_bjmg-2022-0024_ref_004","doi-asserted-by":"crossref","unstructured":"Bradford WD, Bradford JW, Porter FS, Sidbury JB. Cystic disease of liver and kidney with portal hypertension: a cause of sudden unexpected hematemesis. ClinPediatr 1968; 7: 299-306.","DOI":"10.1177\/000992286800700515"},{"key":"2026042718410126340_j_bjmg-2022-0024_ref_005","doi-asserted-by":"crossref","unstructured":"Gaisford W, Bloor K. Congenital polycystic disease of kidneys and liver, portal hypertension-portal anastomosis. Proc R Soc Med 1968; 61: 304.","DOI":"10.1177\/003591576806100347"},{"key":"2026042718410126340_j_bjmg-2022-0024_ref_006","unstructured":"Clermont RJ, Maillard J-N, Benhamou J-p, Fauvert R. Fibrosehepatiquecongenitale. Can Med Assoc J 1967; 97: 1272-8."},{"key":"2026042718410126340_j_bjmg-2022-0024_ref_007","doi-asserted-by":"crossref","unstructured":"Longmire WP, Mandiola SA, Gordon HE. Congenital cystic disease of the liver and biliary system. Ann Surg 1971; 174: 711-26.","DOI":"10.1097\/00000658-197110000-00014"},{"key":"2026042718410126340_j_bjmg-2022-0024_ref_008","doi-asserted-by":"crossref","unstructured":"Manes JL, Kissane JM, Valdes AJ. Congenital hepatic fibrosis liver cell carcinoma and adult polycystic kidneys. Cancer 1977; 39: 2619-23.","DOI":"10.1002\/1097-0142(197706)39:6<2619::AID-CNCR2820390647>3.0.CO;2-4"},{"key":"2026042718410126340_j_bjmg-2022-0024_ref_009","unstructured":"Congenital Hepatic Fibrosis an Asymptomatic Familial Adult-Type Polycystic Kidney Disease in a 19-yearold Woman HENRY D. Tazelaar JOHN A. PAYNE, NARGIS S. PATEL Rush-Presbyterian-St. Luke\u2019s MedicalCenter, Chicago, Illinois"},{"key":"2026042718410126340_j_bjmg-2022-0024_ref_010","doi-asserted-by":"crossref","unstructured":"Ross DG, Travers H. Infantile presentation of adult-type polycystic kidney disease in a large kindred. J Pediatr 1975; 76: 760-3.","DOI":"10.1016\/S0022-3476(75)80303-9"},{"key":"2026042718410126340_j_bjmg-2022-0024_ref_011","doi-asserted-by":"crossref","unstructured":"Kaye C, Lewy PR. Congenital appearance of adult type (autosomal dominant) polycystic kidney disease. J Pediat 1974; 85: 807-10.","DOI":"10.1016\/S0022-3476(74)80346-X"},{"key":"2026042718410126340_j_bjmg-2022-0024_ref_012","doi-asserted-by":"crossref","unstructured":"Shokier MKH. Expression of \u201cadult\u201d polycystic renal disease in the fetus and newborn. Clin Genet 1978; 14: 61-72.","DOI":"10.1111\/j.1399-0004.1978.tb02107.x"},{"key":"2026042718410126340_j_bjmg-2022-0024_ref_013","doi-asserted-by":"crossref","unstructured":"Gunay-Aygun M. Liver and kidney disease in ciliopathies. Am J Med Genet C Semin Med Genet. 2009; 151C: 296\u2013306.","DOI":"10.1002\/ajmg.c.30225"},{"key":"2026042718410126340_j_bjmg-2022-0024_ref_014","doi-asserted-by":"crossref","unstructured":"Blyth H, Ockenden BG. Polycystic disease of kidneys and liver presenting in childhood. J Med Genet 1971; 8: 257-84.","DOI":"10.1136\/jmg.8.3.257"},{"key":"2026042718410126340_j_bjmg-2022-0024_ref_015","doi-asserted-by":"crossref","unstructured":"Association of congenital hepatic fibrosis with autosomal dominant polycystic kidney disease. Report of a family with review of literature. B. Lipshitz, W. E. Berdon, A. R. Defelice, J. Levy pediatrRadiol 1993) 23: 131-133.","DOI":"10.1007\/BF02012406"},{"key":"2026042718410126340_j_bjmg-2022-0024_ref_016","unstructured":"L. Zhu, G. Zhao, C. F. Jia, and Y. Li, \u201cCongenital hepatic fibrosis with medullary sponge kidney: a case report,\u201d ZhonghuaNeikeZazhi, vol. 49, no. 12, pp. 1060-1061, 2010."},{"key":"2026042718410126340_j_bjmg-2022-0024_ref_017","doi-asserted-by":"crossref","unstructured":"Congenital hepatic fibrosis-is it a single clinical entity? Murray-Lyon, G. Ockenden Roger Williams Liver Unit, King\u2019s College Hospital London S.E. 5, England Gastroenterology 64: 653-656, 1973.","DOI":"10.1016\/S0016-5085(73)80138-6"},{"key":"2026042718410126340_j_bjmg-2022-0024_ref_018","doi-asserted-by":"crossref","unstructured":"Lieberman E, Salinas-Madrigal L, Gwinn JL, Brennan LP, Fine RN, Landing BH. Infantile polycystic disease of the kidneys and liver. Medicine 1971; 50: 2 77-318.","DOI":"10.1097\/00005792-197107000-00003"},{"key":"2026042718410126340_j_bjmg-2022-0024_ref_019","unstructured":"W. Zhang, J. R. Gao, Y. H. Lang, and L. P. Shao, \u201cA case report of adult ADKPD with congenital hepatic fibrosis,\u201d ZhonghuaShenzangbingZazhi, vol. 27, no. 7, pp. 547\u2013547, 2011."},{"key":"2026042718410126340_j_bjmg-2022-0024_ref_020","unstructured":"Parkash A, Cheema HA, Malik HS, Fayyaz Z. Congenital hepatic fibrosis: clinical presentation, laboratory features and management at a tertiary care hospital of Lahore. J Pak Med Assoc. 2016 Aug; 66(8):984\u20138."},{"key":"2026042718410126340_j_bjmg-2022-0024_ref_021","unstructured":"Wu YJ, Ding HG. Hereditary polycystic kidney disease: a neglected etiology of liver cirrhosis. Zhonghuaganzang Bing zazhi 2016; 24: 728\u201331."},{"key":"2026042718410126340_j_bjmg-2022-0024_ref_022","doi-asserted-by":"crossref","unstructured":"Bergmann, Carsten et al. \u201cPolycystic kidney disease.\u201d Nature reviews. Disease primers vol. 4,1 50. 6 Dec. 2018, doi: 10.1038\/s41572-018-0047-y","DOI":"10.1038\/s41572-018-0047-y"},{"key":"2026042718410126340_j_bjmg-2022-0024_ref_023","doi-asserted-by":"crossref","unstructured":"Autosomal dominant polycystic kidney disease. Vicente E Torres, Peter C Harris, Yves Pirson Lancet 2007; 369: 1287\u2013301.","DOI":"10.1016\/S0140-6736(07)60601-1"},{"key":"2026042718410126340_j_bjmg-2022-0024_ref_024","doi-asserted-by":"crossref","unstructured":"Nobakht N, Hanna RM, Al-Baghdadi M, Ameen KM, Arman F, Nobahkt E, Kamgar M, Rastogi A. Advances in Autosomal Dominant Polycystic Kidney Disease: A Clinical Review. Kidney Med. 2020 Feb 22; 2(2):196-208. Doi: 10.1016\/j.xkme.2019.11.009.","DOI":"10.1016\/j.xkme.2019.11.009"}],"container-title":["Balkan Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/reference-global.com\/pdf\/10.2478\/bjmg-2022-0024","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T22:13:34Z","timestamp":1777328014000},"score":1,"resource":{"primary":{"URL":"https:\/\/reference-global.com\/article\/10.2478\/bjmg-2022-0024"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,1]]},"references-count":24,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2023,5,2]]},"published-print":{"date-parts":[[2023,5,2]]}},"alternative-id":["10.2478\/bjmg-2022-0024"],"URL":"https:\/\/doi.org\/10.2478\/bjmg-2022-0024","relation":{},"ISSN":["2199-5761"],"issn-type":[{"value":"2199-5761","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,1]]}}}