Childhood Polycystic Kidney Disease
Autosomal recessive polycystic kidney disease (ARPKD), historically called infantile PKD, is a major cause of morbidity and mortality in neonates, infants and young adults. Autosomal dominant polycystic kidney disease (ADPKD), historically referred to as adult PKD, is increasingly recognized as a si...
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| 格式: | Online |
| 语言: | 英语 |
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Exon Publications
2024
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| 在线阅读: | https://directory.doabooks.org/handle/20.500.12854/136608 |
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| _version_ | 1869516053914058752 |
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| author | Patil, Ameya Sweeney Jr., William E. Avner, Ellis D. Pan, Cynthia |
| author_browse | Avner, Ellis D. Pan, Cynthia Patil, Ameya Sweeney Jr., William E. |
| author_facet | Patil, Ameya Sweeney Jr., William E. Avner, Ellis D. Pan, Cynthia |
| author_sort | Patil, Ameya |
| collection | Directory of Open Access Books |
| description | Autosomal recessive polycystic kidney disease (ARPKD), historically called infantile PKD, is a major cause of morbidity and mortality in neonates, infants and young adults. Autosomal dominant polycystic kidney disease (ADPKD), historically referred to as adult PKD, is increasingly recognized as a significant cause of morbidity and mortality in children and young adults. ARPKD, a dual-organ disease with hepatic and renal involvement has an incidence of 1: 20,000 to 1: 40,000. All ARPKD patients are invariably afflicted with congenital hepatic fibrosis (CHF) of varying degrees of severity. Improved survival of ARPKD patients has led to recognition of significant clinical complications of CHF and the highly variable age at which it presents, ranging from early childhood to young adulthood. ADPKD, with an incidence as high as 1:400, affects more than 13 million individuals worldwide, and accounts for 7-10% of end stage kidney disease (ESKD) in adults. However, asymptomatic disease is increasingly recognized in infants and children and nearly equivalent numbers of ADPKD and ARPKD patients may be seen in academic pediatric nephrology clinics. The delineation of the basic molecular and cellular pathophysiology of ADPKD and ARPKD has seen remarkable progress in the last decade. This progress has led to the development of promising therapies currently being evaluated in clinical trials. Early diagnosis of ADPKD and ARPKD allows for optimal anticipatory care (for example, early blood pressure control). Given the predicted benefit of early intervention with new disease-specific therapeutics, screening at-risk youth, a previously-discouraged strategy, may now be warranted. This chapter will discuss central clinical characteristics essential for diagnosis and the care of children with ARPKD or ADPKD. We will also highlight recent insights in the molecular and cellular pathophysiology of PKD and the clinical translation into new therapies that promise to alter the natural history of disease for children with genetic PKD. |
| format | Online |
| id | doab-20.500.12854ir-136608 |
| 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-1366082024-05-02T05:07:34Z Childhood Polycystic Kidney Disease Patil, Ameya Sweeney Jr., William E. Avner, Ellis D. Pan, Cynthia Li, Xiaogang Childhood Polycystic Kidney Disease M Autosomal recessive polycystic kidney disease (ARPKD), historically called infantile PKD, is a major cause of morbidity and mortality in neonates, infants and young adults. Autosomal dominant polycystic kidney disease (ADPKD), historically referred to as adult PKD, is increasingly recognized as a significant cause of morbidity and mortality in children and young adults. ARPKD, a dual-organ disease with hepatic and renal involvement has an incidence of 1: 20,000 to 1: 40,000. All ARPKD patients are invariably afflicted with congenital hepatic fibrosis (CHF) of varying degrees of severity. Improved survival of ARPKD patients has led to recognition of significant clinical complications of CHF and the highly variable age at which it presents, ranging from early childhood to young adulthood. ADPKD, with an incidence as high as 1:400, affects more than 13 million individuals worldwide, and accounts for 7-10% of end stage kidney disease (ESKD) in adults. However, asymptomatic disease is increasingly recognized in infants and children and nearly equivalent numbers of ADPKD and ARPKD patients may be seen in academic pediatric nephrology clinics. The delineation of the basic molecular and cellular pathophysiology of ADPKD and ARPKD has seen remarkable progress in the last decade. This progress has led to the development of promising therapies currently being evaluated in clinical trials. Early diagnosis of ADPKD and ARPKD allows for optimal anticipatory care (for example, early blood pressure control). Given the predicted benefit of early intervention with new disease-specific therapeutics, screening at-risk youth, a previously-discouraged strategy, may now be warranted. This chapter will discuss central clinical characteristics essential for diagnosis and the care of children with ARPKD or ADPKD. We will also highlight recent insights in the molecular and cellular pathophysiology of PKD and the clinical translation into new therapies that promise to alter the natural history of disease for children with genetic PKD. Published 2024-05-02T05:07:29Z 2024-05-02T05:07:29Z 2015-11-18 chapter https://directory.doabooks.org/handle/20.500.12854/136608 eng image/jpeg Attribution-NonCommercial-NoDerivatives 4.0 International https://exonpublications.com/index.php/exon/article/view/68 Exon Publications https://doi.org/10.15586/codon.pkd.2015.ch2 https://doi.org/10.15586/codon.pkd.2015.ch2 2d6001a3-9e06-4979-bf02-6974e313eb24 21-60 Brisbane open access |
| spellingShingle | Childhood Polycystic Kidney Disease M Patil, Ameya Sweeney Jr., William E. Avner, Ellis D. Pan, Cynthia Childhood Polycystic Kidney Disease |
| title | Childhood Polycystic Kidney Disease |
| title_full | Childhood Polycystic Kidney Disease |
| title_fullStr | Childhood Polycystic Kidney Disease |
| title_full_unstemmed | Childhood Polycystic Kidney Disease |
| title_short | Childhood Polycystic Kidney Disease |
| title_sort | childhood polycystic kidney disease |
| topic | Childhood Polycystic Kidney Disease M |
| topic_facet | Childhood Polycystic Kidney Disease M |
| url | https://directory.doabooks.org/handle/20.500.12854/136608 |
| work_keys_str_mv | AT patilameya childhoodpolycystickidneydisease AT sweeneyjrwilliame childhoodpolycystickidneydisease AT avnerellisd childhoodpolycystickidneydisease AT pancynthia childhoodpolycystickidneydisease |