Massive liver involvement in autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disease with an estimated prevalence of between 1/400 and 1/1000 [1]. The PKD1 genetic mutation, encoding polycystin-1, is found in 80% of cases, while 20% of patients carry the PKD2 mutation, encoding polycystin-2. Liver invo...
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| Format: | Article |
| Language: | English |
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Amaltea Medical Publishing House
2021-12-01
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| Series: | Romanian Medical Journal |
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| Online Access: | https://rmj.com.ro/articles/2021.4/RMJ_2021_4_Art-24.pdf |
| _version_ | 1797278875117420544 |
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| author | Camelia Achim Anca Zgura Cristian Gabriel Popescu Claudia Mehedintu Dumitru Cristinel Badiu Bogdan Haineala |
| author_facet | Camelia Achim Anca Zgura Cristian Gabriel Popescu Claudia Mehedintu Dumitru Cristinel Badiu Bogdan Haineala |
| author_sort | Camelia Achim |
| collection | DOAJ |
| description | Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disease with an estimated prevalence of between 1/400 and 1/1000 [1]. The PKD1 genetic mutation, encoding polycystin-1, is found in 80% of cases, while 20%
of patients carry the PKD2 mutation, encoding polycystin-2. Liver involvement is the most common extrarenal manifestation, occurring in over 50% of cases of hepato-renal polycystosis the most frequent extrarenal manifestation in autosomal-dominant polycystic kidney disease (ADPKD). Liver cysts are responsible for most hepatic complications. A 40-year-old female presented on 13st April 2013 to the Nephrology Unit of Fundeni Clinical Institute with abdominal distension and renal dysfunction. ADPKD had been diagnosed 5 years previously and had progressed to end-stage renal disease, treated by hemodialysis, in May 2014. Her medical history included well controlled hypertension and hyperlipidemia. The family history included ADPKD affected relatives. Conclusion. Because early complications and mortality after either procedure remain frequent, the hazards of surgery have to be balanced against benefits; therefore, selection of the optimum therapy still remains a challenge. |
| first_indexed | 2024-03-07T16:15:25Z |
| format | Article |
| id | doaj.art-eabf13ac0ee54be399659abae8ee50e2 |
| institution | Directory Open Access Journal |
| issn | 1220-5478 2069-606X |
| language | English |
| last_indexed | 2024-03-07T16:15:25Z |
| publishDate | 2021-12-01 |
| publisher | Amaltea Medical Publishing House |
| record_format | Article |
| series | Romanian Medical Journal |
| spelling | doaj.art-eabf13ac0ee54be399659abae8ee50e22024-03-04T12:55:55ZengAmaltea Medical Publishing HouseRomanian Medical Journal1220-54782069-606X2021-12-0168453653910.37897/RMJ.2021.4.24Massive liver involvement in autosomal dominant polycystic kidney diseaseCamelia Achim 0Anca Zgura1Cristian Gabriel Popescu2Claudia Mehedintu3Dumitru Cristinel Badiu4Bogdan Haineala5Department of Nephrology, Fundeni Clinical Institute, Bucharest, Romania; “Carol Davila“ University of Medicine and Pharmacy, Bucharest, Romania“Carol Davila“ University of Medicine and Pharmacy, Bucharest, Romania“Carol Davila“ University of Medicine and Pharmacy, Bucharest, Romania; General Surgery Department, “Bagdasar-Arseni“ Clinical Emergency Hospital, Bucharest, Romania“Carol Davila“ University of Medicine and Pharmacy, Bucharest, Romania“Carol Davila“ University of Medicine and Pharmacy, Bucharest, Romania; General Surgery Department, “Bagdasar-Arseni“ Clinical Emergency Hospital, Bucharest, Romania“Carol Davila“ University of Medicine and Pharmacy, Bucharest, Romania; Department of Urology, Fundeni Clinical Institute, Bucharest, RomaniaAutosomal dominant polycystic kidney disease (ADPKD) is a common genetic disease with an estimated prevalence of between 1/400 and 1/1000 [1]. The PKD1 genetic mutation, encoding polycystin-1, is found in 80% of cases, while 20% of patients carry the PKD2 mutation, encoding polycystin-2. Liver involvement is the most common extrarenal manifestation, occurring in over 50% of cases of hepato-renal polycystosis the most frequent extrarenal manifestation in autosomal-dominant polycystic kidney disease (ADPKD). Liver cysts are responsible for most hepatic complications. A 40-year-old female presented on 13st April 2013 to the Nephrology Unit of Fundeni Clinical Institute with abdominal distension and renal dysfunction. ADPKD had been diagnosed 5 years previously and had progressed to end-stage renal disease, treated by hemodialysis, in May 2014. Her medical history included well controlled hypertension and hyperlipidemia. The family history included ADPKD affected relatives. Conclusion. Because early complications and mortality after either procedure remain frequent, the hazards of surgery have to be balanced against benefits; therefore, selection of the optimum therapy still remains a challenge.https://rmj.com.ro/articles/2021.4/RMJ_2021_4_Art-24.pdfpolycystic kidney diseasehepatic fibrosiscyststransplantation |
| spellingShingle | Camelia Achim Anca Zgura Cristian Gabriel Popescu Claudia Mehedintu Dumitru Cristinel Badiu Bogdan Haineala Massive liver involvement in autosomal dominant polycystic kidney disease Romanian Medical Journal polycystic kidney disease hepatic fibrosis cysts transplantation |
| title | Massive liver involvement in autosomal dominant polycystic kidney disease |
| title_full | Massive liver involvement in autosomal dominant polycystic kidney disease |
| title_fullStr | Massive liver involvement in autosomal dominant polycystic kidney disease |
| title_full_unstemmed | Massive liver involvement in autosomal dominant polycystic kidney disease |
| title_short | Massive liver involvement in autosomal dominant polycystic kidney disease |
| title_sort | massive liver involvement in autosomal dominant polycystic kidney disease |
| topic | polycystic kidney disease hepatic fibrosis cysts transplantation |
| url | https://rmj.com.ro/articles/2021.4/RMJ_2021_4_Art-24.pdf |
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