Unraveling the Complexity of Childhood Polycystic Kidney Disease: A Case Study of Three Sisters
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disorder, estimated to affect 1 in 1000 people. It displays a high level of variability in terms of onset and severity among affected individuals within the same family. In this case study, three sisters (4, 8,...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-10-01
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| Series: | Children |
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| Online Access: | https://www.mdpi.com/2227-9067/10/10/1700 |
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| author | Ivana Trutin Lea Oletić Tamara Nikuševa-Martić |
| author_facet | Ivana Trutin Lea Oletić Tamara Nikuševa-Martić |
| author_sort | Ivana Trutin |
| collection | DOAJ |
| description | Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disorder, estimated to affect 1 in 1000 people. It displays a high level of variability in terms of onset and severity among affected individuals within the same family. In this case study, three sisters (4, 8, and 10 years of age) were suspected of having ADPKD due to their positive family history. While the two younger sisters aged 8 and 4 showed no disease complications and had normal kidney function, the oldest sister was found to have no dipping status on ambulatory blood pressure measurement (ABPM). Two of the sisters were discovered to have a <i>PKD1</i> mutation, while the third sister aged 8 was heterozygous for <i>TTC21B</i> c.1593_1595del, p. (Leu532del), which is a variant of uncertain significance (VUS). Environmental factors and genetic modifying factors are believed to contribute to the phenotypic variability observed in ADPKD. Identifying and understanding potential genetic and environmental modifiers of ADPKD could pave the way to targeted treatments for childhood ADPKD. |
| first_indexed | 2024-03-10T21:21:05Z |
| format | Article |
| id | doaj.art-d278c3a59dbb4f5f8055e934ac19d35e |
| institution | Directory Open Access Journal |
| issn | 2227-9067 |
| language | English |
| last_indexed | 2024-03-10T21:21:05Z |
| publishDate | 2023-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Children |
| spelling | doaj.art-d278c3a59dbb4f5f8055e934ac19d35e2023-11-19T16:05:50ZengMDPI AGChildren2227-90672023-10-011010170010.3390/children10101700Unraveling the Complexity of Childhood Polycystic Kidney Disease: A Case Study of Three SistersIvana Trutin0Lea Oletić1Tamara Nikuševa-Martić2Department of Pediatrics, Sestre Milosrdnice University Hospital Center, 10000 Zagreb, CroatiaDepartment of Pediatrics, Sestre Milosrdnice University Hospital Center, 10000 Zagreb, CroatiaDepartment of Biology, School of Medicine, University of Zagreb, 10000 Zagreb, CroatiaAutosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disorder, estimated to affect 1 in 1000 people. It displays a high level of variability in terms of onset and severity among affected individuals within the same family. In this case study, three sisters (4, 8, and 10 years of age) were suspected of having ADPKD due to their positive family history. While the two younger sisters aged 8 and 4 showed no disease complications and had normal kidney function, the oldest sister was found to have no dipping status on ambulatory blood pressure measurement (ABPM). Two of the sisters were discovered to have a <i>PKD1</i> mutation, while the third sister aged 8 was heterozygous for <i>TTC21B</i> c.1593_1595del, p. (Leu532del), which is a variant of uncertain significance (VUS). Environmental factors and genetic modifying factors are believed to contribute to the phenotypic variability observed in ADPKD. Identifying and understanding potential genetic and environmental modifiers of ADPKD could pave the way to targeted treatments for childhood ADPKD.https://www.mdpi.com/2227-9067/10/10/1700autosomal dominant polycystic kidney diseasechildrenmutation |
| spellingShingle | Ivana Trutin Lea Oletić Tamara Nikuševa-Martić Unraveling the Complexity of Childhood Polycystic Kidney Disease: A Case Study of Three Sisters Children autosomal dominant polycystic kidney disease children mutation |
| title | Unraveling the Complexity of Childhood Polycystic Kidney Disease: A Case Study of Three Sisters |
| title_full | Unraveling the Complexity of Childhood Polycystic Kidney Disease: A Case Study of Three Sisters |
| title_fullStr | Unraveling the Complexity of Childhood Polycystic Kidney Disease: A Case Study of Three Sisters |
| title_full_unstemmed | Unraveling the Complexity of Childhood Polycystic Kidney Disease: A Case Study of Three Sisters |
| title_short | Unraveling the Complexity of Childhood Polycystic Kidney Disease: A Case Study of Three Sisters |
| title_sort | unraveling the complexity of childhood polycystic kidney disease a case study of three sisters |
| topic | autosomal dominant polycystic kidney disease children mutation |
| url | https://www.mdpi.com/2227-9067/10/10/1700 |
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