Congenital Hepatic Fibrosis as an Early Sign of Presentation of ADPKD
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...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Sciendo
2022-12-01
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| Series: | Balkan Journal of Medical Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.2478/bjmg-2022-0024 |
| _version_ | 1797796826907148288 |
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| author | Sila L. Velmishi V. Saraci B. Dervishi E. Sila S. Shtiza D. Cullufi P. |
| author_facet | Sila L. Velmishi V. Saraci B. Dervishi E. Sila S. Shtiza D. Cullufi P. |
| author_sort | Sila L. |
| collection | DOAJ |
| description | 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, PDK1 and PDK2.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. |
| first_indexed | 2024-03-13T03:38:54Z |
| format | Article |
| id | doaj.art-dddaf1c950e8417e950524a9bc1d07d8 |
| institution | Directory Open Access Journal |
| issn | 2199-5761 |
| language | English |
| last_indexed | 2024-03-13T03:38:54Z |
| publishDate | 2022-12-01 |
| publisher | Sciendo |
| record_format | Article |
| series | Balkan Journal of Medical Genetics |
| spelling | doaj.art-dddaf1c950e8417e950524a9bc1d07d82023-06-23T11:55:12ZengSciendoBalkan Journal of Medical Genetics2199-57612022-12-01252919510.2478/bjmg-2022-0024Congenital Hepatic Fibrosis as an Early Sign of Presentation of ADPKDSila L.0Velmishi V.1Saraci B.2Dervishi E.3Sila S.4Shtiza D.5Cullufi P.61Pediatric department, “Mother Teresa” Hospital - Tirana, Tirana, Albania2Service of pediatric gastroenterology, “Mother Teresa” Hospital - Tirana, Tirana, Albania3Service of pediatric radiology “Mother Teresa” Hospital - Tirana, Tirana, Albania2Service of pediatric gastroenterology, “Mother Teresa” Hospital - Tirana, Tirana, Albania4Service of pediatric anesthesiology “Mother Teresa” Hospital - Tirana, Tirana, Albania5Service of pediatric nephrology “Mother Teresa” Hospital - Tirana, Tirana, Albania2Service of pediatric gastroenterology, “Mother Teresa” Hospital - Tirana, Tirana, AlbaniaAutosomal 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, PDK1 and PDK2.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.https://doi.org/10.2478/bjmg-2022-0024autosomal polycystic kidney disease adkpdcongenital hepatic fibrosis chf |
| spellingShingle | Sila L. Velmishi V. Saraci B. Dervishi E. Sila S. Shtiza D. Cullufi P. Congenital Hepatic Fibrosis as an Early Sign of Presentation of ADPKD Balkan Journal of Medical Genetics autosomal polycystic kidney disease adkpd congenital hepatic fibrosis chf |
| title | Congenital Hepatic Fibrosis as an Early Sign of Presentation of ADPKD |
| title_full | Congenital Hepatic Fibrosis as an Early Sign of Presentation of ADPKD |
| title_fullStr | Congenital Hepatic Fibrosis as an Early Sign of Presentation of ADPKD |
| title_full_unstemmed | Congenital Hepatic Fibrosis as an Early Sign of Presentation of ADPKD |
| title_short | Congenital Hepatic Fibrosis as an Early Sign of Presentation of ADPKD |
| title_sort | congenital hepatic fibrosis as an early sign of presentation of adpkd |
| topic | autosomal polycystic kidney disease adkpd congenital hepatic fibrosis chf |
| url | https://doi.org/10.2478/bjmg-2022-0024 |
| work_keys_str_mv | AT silal congenitalhepaticfibrosisasanearlysignofpresentationofadpkd AT velmishiv congenitalhepaticfibrosisasanearlysignofpresentationofadpkd AT saracib congenitalhepaticfibrosisasanearlysignofpresentationofadpkd AT dervishie congenitalhepaticfibrosisasanearlysignofpresentationofadpkd AT silas congenitalhepaticfibrosisasanearlysignofpresentationofadpkd AT shtizad congenitalhepaticfibrosisasanearlysignofpresentationofadpkd AT cullufip congenitalhepaticfibrosisasanearlysignofpresentationofadpkd |