Differential Diagnosis of Autosomal Dominant Polycystic Kidney Disease
Autosomal dominant polycystic kidney disease (ADPKD) is the most common life-threatening hereditary disorder characterized by cyst formation and enlargement in the kidney and other organs. There are two known mutations in ADPKD: PKD1 (85% of cases), whose clinical manifestations are the earliest and...
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Exon Publications
2024
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| author | Alves, Mariana Fonseca, Teresa de Almeida, Edgar A. F. |
| author_browse | Alves, Mariana Fonseca, Teresa de Almeida, Edgar A. F. |
| author_facet | Alves, Mariana Fonseca, Teresa de Almeida, Edgar A. F. |
| author_sort | Alves, Mariana |
| collection | Directory of Open Access Books |
| description | Autosomal dominant polycystic kidney disease (ADPKD) is the most common life-threatening hereditary disorder characterized by cyst formation and enlargement in the kidney and other organs. There are two known mutations in ADPKD: PKD1 (85% of cases), whose clinical manifestations are the earliest and most rapidly evolving; and PKD2 (15% of cases). PKD1 is a large and complex gene encoding polycystin-1, whereas PKD2 is smaller and encodes polycystin-2. There are a few patients reported in the literature who will not fit into any of these subgroups, leading clinicians to question the exact diagnosis, for example, patients without either of these mutations or patients with predominant development of hepatic cysts. The differential diagnosis between ADPKD and other cystic kidney diseases depends on the age of the patient, family history and the presence of associated manifestations. In adult patients in the absence of a family history of ADPKD, doctors should exclude: multiple benign simple cysts; localised or acquired renal cystic disease; medullary sponge kidney; bilateral parapelvic cysts; autosomal recessive polycystic kidney disease (ARPKD); tuberous sclerosis complex (TSC); von Hippel-Lindau disease; autosomal dominant medullary cystic disease; autosomal dominant polycystic liver disease; and X-linked dominant orofaciodigital syndrome type I. In young children, in the absence of family history of ADPKD, it is important to distinguish from ARPKD, contiguous PKD1-TSC2 syndrome or Meckel-Gruber syndrome. This chapter will review the challenges in the diagnosis of multiple kidney cysts in adults, pointing out the most important signs which doctors should be aware of to reach an appropriate diagnosis in this condition. |
| format | Online |
| id | doab-20.500.12854ir-136607 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2024 |
| publishDateRange | 2024 |
| publishDateSort | 2024 |
| publisher | Exon Publications |
| publisherStr | Exon Publications |
| record_format | ojs |
| spelling | doab-20.500.12854ir-1366072024-05-02T04:56:57Z Differential Diagnosis of Autosomal Dominant Polycystic Kidney Disease Alves, Mariana Fonseca, Teresa de Almeida, Edgar A. F. Li, Xiaogang acquired renal cystic disease autosomal recessive polycystic kidney disease Bardet-Biedl syndrome M Autosomal dominant polycystic kidney disease (ADPKD) is the most common life-threatening hereditary disorder characterized by cyst formation and enlargement in the kidney and other organs. There are two known mutations in ADPKD: PKD1 (85% of cases), whose clinical manifestations are the earliest and most rapidly evolving; and PKD2 (15% of cases). PKD1 is a large and complex gene encoding polycystin-1, whereas PKD2 is smaller and encodes polycystin-2. There are a few patients reported in the literature who will not fit into any of these subgroups, leading clinicians to question the exact diagnosis, for example, patients without either of these mutations or patients with predominant development of hepatic cysts. The differential diagnosis between ADPKD and other cystic kidney diseases depends on the age of the patient, family history and the presence of associated manifestations. In adult patients in the absence of a family history of ADPKD, doctors should exclude: multiple benign simple cysts; localised or acquired renal cystic disease; medullary sponge kidney; bilateral parapelvic cysts; autosomal recessive polycystic kidney disease (ARPKD); tuberous sclerosis complex (TSC); von Hippel-Lindau disease; autosomal dominant medullary cystic disease; autosomal dominant polycystic liver disease; and X-linked dominant orofaciodigital syndrome type I. In young children, in the absence of family history of ADPKD, it is important to distinguish from ARPKD, contiguous PKD1-TSC2 syndrome or Meckel-Gruber syndrome. This chapter will review the challenges in the diagnosis of multiple kidney cysts in adults, pointing out the most important signs which doctors should be aware of to reach an appropriate diagnosis in this condition. Published 2024-05-02T04:56:51Z 2024-05-02T04:56:51Z 2015-11-18 chapter 978-0-9944381-0-2 https://directory.doabooks.org/handle/20.500.12854/136607 eng image/jpeg Attribution-NonCommercial-NoDerivatives 4.0 International https://exonpublications.com/index.php/exon/article/view/67 Exon Publications 10.15586/codon.pkd.2015.ch1 10.15586/codon.pkd.2015.ch1 2d6001a3-9e06-4979-bf02-6974e313eb24 978-0-9944381-0-2 3-19 Brisbane open access |
| spellingShingle | acquired renal cystic disease autosomal recessive polycystic kidney disease Bardet-Biedl syndrome M Alves, Mariana Fonseca, Teresa de Almeida, Edgar A. F. Differential Diagnosis of Autosomal Dominant Polycystic Kidney Disease |
| title | Differential Diagnosis of Autosomal Dominant Polycystic Kidney Disease |
| title_full | Differential Diagnosis of Autosomal Dominant Polycystic Kidney Disease |
| title_fullStr | Differential Diagnosis of Autosomal Dominant Polycystic Kidney Disease |
| title_full_unstemmed | Differential Diagnosis of Autosomal Dominant Polycystic Kidney Disease |
| title_short | Differential Diagnosis of Autosomal Dominant Polycystic Kidney Disease |
| title_sort | differential diagnosis of autosomal dominant polycystic kidney disease |
| topic | acquired renal cystic disease autosomal recessive polycystic kidney disease Bardet-Biedl syndrome M |
| topic_facet | acquired renal cystic disease autosomal recessive polycystic kidney disease Bardet-Biedl syndrome M |
| url | https://directory.doabooks.org/handle/20.500.12854/136607 |
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