[논문]Congenital hepatic fibrosis and polycystic kidney disease not linked to C >A mutation in exon 29 of PKD1 in a Persian cat

Guerra, Juliana Mariotti; Daniel, Alexandre Gonç; alves Teixeira; Cardoso, Natalia Cavalca; Grandi, Fabrizio; Queiroga, Felisbina; Cogliati, Bruno

doi:10.1177/2055116915619191

Congenital hepatic fibrosis and polycystic kidney disease not linked to C >A mutation in exon 29 of PKD1 in a Persian cat 원문보기

Journal of feline medicine and surgery open reports : JFMS Open Reports ; official journal of the International Society of Feline Medicine (ISFM) and the American Association of Feline Practitioners (, v.1 no.2, 2015년, pp.2055116915619191 -

Guerra, Juliana Mariotti (Department of Pathology, School of Veterinary Medicine and Animal Science, University of Sã) , Daniel, Alexandre Gonçalves Teixeira (o Paulo (USP), Sã) , Cardoso, Natalia Cavalca (o Paulo, SP, Brazil) , Grandi, Fabrizio (Department of Clinical Medicine, School of Veterinary Medicine, Metodista University of Sao Paulo, Sao Bernardo do Campo, Brazil) , Queiroga, Felisbina (Department of Pathology, School of Veterinary Medicine and Animal Science, University of Sã) , Cogliati, Bruno (o Paulo (USP), Sã)

Abstract ▼ AI-Helper

Case summaryWe describe the case of a 1-year-old male Persian cat diagnosed with congenital hepatic fibrosis (CHF) associated with renal polycystic disease and, for the first time, we have shown that there was no C >A mutation in exon 29 of PKD1 (polycystic kidney disease 1). The cat presented with a history of chronic weight loss, anorexia, vomiting, depression and lethargy, with profuse salivation and ascites on clinical examination. A mild elevation in liver-associated plasma enzymes suggested a hepatic disease. Owing to the cat’s deteriorating condition, it was euthanized. During necropsy, the liver was found to be enlarged, firm and reddish, and the kidney had multiple small cortical cysts. Immunohistochemistry revealed that bile duct cells and epithelial cells of renal cysts showed positive immunoreactivity to keratin 19. Collagen fibers surrounding bile ducts within portal areas demonstrated reactivity to type IV collagen antibody, confirming the congenital nature of the process. A diagnosis of ductal plate malformation consistent with CHF associated with polycystic kidney in a young Persian cat was made. Interestingly, genetic testing revealed a wild-type sequence at position 3284 in exon 29 of PKD1.Relevance and novel informationThe absence of the classic genetic mutation associated with the particular clinical presentation supports the hypothesis of a distinct etiopathogenesis among fibropolycystic diseases in domestic cats. Moreover, congenital hepatic fibrosis is a rare but important differential diagnosis for young Persian cats and their crosses with clinical signs of chronic end-stage liver disease.

참고문헌 (36)

1 Ward CJ Hogan MC Rossetti S The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein . Nat Genet 2002 ; 30 : 259 – 269 . 11919560

상세보기
2 Wallace S Blanchard T Rabin L Ductal plate malformation in a nonhuman primate . Vet Pathol 2009 ; 46 : 84 – 87 . 19112121

상세보기
3 Gunay-Aygun M Gahl WA Heller T. Congenital hepatic fibrosis overview . In: Pagon RA Adam MP Ardinger HH (eds). GeneReviews® [Internet] . Seattle (WA) : University of Washington, Seattle ; 1993–2015 Available from: http://www.ncbi.nlm.nih.gov/books/NBK2701/
4 Brown DL Van Winkle T Cecere T Congenital hepatic fibrosis in 5 dogs . Vet Pathol 2010 ; 47 : 102 – 107 . 20080489

상세보기
5 Haechler S Van den Ingh TS Rogivue C Congenital hepatic fibrosis and cystic bile duct formation in Swiss Freiberger horses . Vet Pathol 2000 ; 37 : 669 – 671 . 11105960

상세보기
6 Yoshikawa H Fukuda T Oyamada T Congenital hepatic fibrosis in a newborn calf . Vet Pathol 2002 ; 39 : 143 – 145 . 12102208

상세보기
7 Movassaghi AR Naseri Z Rezaee Oghazi M. Congenital hepatic fibrosis in an aborted calf . Iran J Vet Res 2011 ; 12 : 262 – 264 .
8 Biller DS Chew DJ DiBartola SP. Polycystic kidney disease in a family of Persian cats . J Am Vet Med Assoc 1990 ; 196 : 1288 – 1290 . 2185204
9 Eaton KA Biller DS DiBartola SP Autosomal dominant polycystic kidney disease in Persian and Persian-cross cats . Vet Pathol 1997 ; 34 : 117 – 126 . 9066078

상세보기
10 Lyons LA Biller DS Erdman CA Feline polycystic kidney disease mutation identified in PKD1 . J Am Soc Nephrol 2004 ; 15 : 2548 – 2555 . 15466259

상세보기
11 Bonazzi M Volta A Gnudi G Comparison between ultrasound and genetic testing for the early diagnosis of polycystic kidney disease in Persian and Exotic Shorthair cats . J Feline Med Surg 2009 ; 11 : 430 – 434 . 19046910
12 Kappe EC Hecht W Gerwing M Polycystic kidney disease in the German population of Persian cats. A comparative study of ultrasonographical examination and genetic testing . Tierarztl Prax Ausg K 2005 ; 33 : 413 – 418 .
13 Bosje JT Van den Ingh TS Van der Linde-Sipman JS. Polycystic kidney and liver disease in cats . Vet Q 1998 ; 20 : 136 – 139 . 9810628

상세보기
14 Zandvliet MMJM Szatmári V Van den Ingh T Acquired portosystemic shunting in 2 cats secondary to congenital hepatic fibrosis . J Vet Intern Med 2005 ; 19 : 765 – 767 . 16231725

상세보기
15 Witham AI Chou CY Hartman A Congenital hepatic fibrosis with polycystic kidney disease in a Persian cat from New Zealand . Aust Vet Pract 2011 ; 41 : 178 – 181 .

상세보기
16 Young AE Biller DS Herrgesell EJ Feline polycystic kidney disease is linked to the PKD1 region . Mamm Genome 2005 ; 16 : 59 – 65 . 15674734

상세보기
17 Roskams TA Theise ND Balabaud C Nomenclature of the finer branches of the biliary tree: canals, ductules, and ductular reactions in human livers . Hepatology 2004 ; 39 : 1739 – 1745 . 15185318
18 Awasthi A Das A Srinivasan R Morphological and immunohistochemical analysis of ductal plate malformation: correlation with fetal liver . Histopathology 2004 ; 45 : 260 – 267 . 15330804

상세보기
19 Libbrecht L Cassiman D Desmet V The correlation between portal myofibroblasts and development of intrahepatic bile ducts and arterial branches in human liver . Liver 2002 ; 22 : 252 – 258 . 12100576

상세보기
20 Desmet VJ. What is congenital hepatic fibrosis? Histopathology 1992 ; 20 : 465 – 477 . 1607148

상세보기
21 Desmet VJ. Congenital diseases of intrahepatic bile ducts: variations on the theme “ductal plate malformation” . Hepatology 1992 ; 16 : 1069 – 1083 . 1398487
22 Onuchic LF Furu L Nagasawa Y PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats . Am J Hum Genet 2002 ; 70 : 1305 – 1317 . 11898128

상세보기
23 Cobben JM Breuning MH Schoots C Congenital hepatic fibrosis in autosomal-dominant polycystic kidney disease . Kidney Int 1990 ; 38 : 880 – 885 . 2266672

상세보기
24 Lipschitz B Berdon WE Defelice AR Association of congenital hepatic fibrosis with autosomal dominant polycystic kidney disease . Pediatr Radiol 1993 ; 23 : 131 – 133 . 8516038
25 Pedrolli C Cereda E. Autosomal dominant polycystic disease . Hepatology 2009 ; 50 : 1671 – 1672 . 19876943
26 Podell M DiBartola SP Rosol TJ : Polycystic kidney disease and renal lymphoma in a cat . J Am Vet Med Assoc 1992 ; 201 : 906 – 909 . 1399804
27 Biller DS DiBartola SP Eaton KA Inheritance of polycystic kidney disease in Persian cats . J Hered 1996 ; 87 : 1 – 5 . 8742815

상세보기
28 Crowell WA Hubbell JJ Riley JC. Polycystic renal disease in related cats . J Am Vet Med Assoc 1979 ; 175 : 286 – 288 . 500456
29 Lettow E Dammrich K. Congenital polycystic liver and kidney lesions in a cat . Tierarztl Prax Ausg K 1967 ; 12 : 34 – 43 .
30 Chapin HC Caplan MJ. The cell biology of polycystic kidney disease . J Cell Biol 2010 ; 191 : 701 – 710 . 21079243

상세보기
31 Center SA : Diseases of the gallbladder and biliary tree . Vet Clin North Am Small Anim Pract 2009 ; 39 : 543 – 598 . 19524793

상세보기
32 Giouleme O Nikolaidis N Tziomalos K Ductal plate malformation and congenital hepatic fibrosis Clinical and histological findings in four patients . Hepat Res 2006 ; 35 : 147 – 150 .
33 Cannon MJ Barr FJ Rudorf H Prevalence of polycystic kidney disease in Persian cats in the United Kingdom . Vet Rec 2001 ; 149 : 409 – 411 . 11678212

상세보기
34 Martinez JR Grantham JJ. Polycystic kidney disease: etiology, pathogenesis, and treatment . Dis Mon 1995 ; 41 : 693 – 765 . 7587886

상세보기
35 Igarashi P Somlo S. Genetics and pathogenesis of polycystic kidney disease . J Am Soc Nephrol 2002 ; 13 : 2384 – 2398 . 12191984

상세보기
36 Lee Y-J Chen H-Y Hsu W-L Diagnosis of feline polycystic kidney disease by a combination of ultrasonographic examination and PKD1 gene analysis . Vet Rec 2010 ; 167 : 614 – 618 . 21257442

상세보기

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Congenital hepatic fibrosis and polycystic kidney disease not linked to C >A mutation in exon 29 of PKD1 in a Persian cat 원문보기

Abstract ▼ AI-Helper

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