Epidemiology and outcomes of pediatric autosomal recessive polycystic kidney disease in the Middle East and North Africa
Article
Salman, M. A., Elgebaly, A. and Soliman, N. A. 2024. Epidemiology and outcomes of pediatric autosomal recessive polycystic kidney disease in the Middle East and North Africa. Pediatric Nephrology. 39, pp. 2569-2578. https://doi.org/10.1007/s00467-024-06281-0
Authors | Salman, M. A., Elgebaly, A. and Soliman, N. A. |
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Abstract | The incidence of rare diseases is expected to be comparatively higher in the Middle East and North Africa (MENA) region than in other parts of the world, attributed to the high prevalence of consanguinity. Most MENA countries share social and economic statuses, cultural relativism, religious beliefs, and healthcare policies. Polycystic kidney diseases (PKDs) are the most common genetic causes of kidney failure, accounting for nearly 8.0% of dialysis cases. The development of PKDs is linked to variants in several genes, including PKD1, PKD2, PKHD1, DZIP1L, and CYS1. Autosomal recessive PKD (ARPKD) is the less common yet aggressive form of PKD. ARPKD has an estimated incidence between 1:10,000 and 1:40,000. Most patients with ARPKD require kidney replacement therapy earlier than patients with autosomal dominant polycystic kidney disease (ADPKD), often in their early years of life. This review gathered data from published research studies and reviews of ARPKD, highlighting the epidemiology, phenotypic presentation, investigations, genetic analysis, outcomes, and management. Although limited data are available, the published literature suggests that the incidence of ARPKD may be higher in the MENA region due to consanguineous marriages. Patients with ARPKD from the MENA region usually present at a later disease stage and have a relatively short time to progress to kidney failure. Limited data are available regarding the management practice in the region, which warrants further investigations. |
Journal | Pediatric Nephrology |
Journal citation | 39, pp. 2569-2578 |
ISSN | 0931-041X |
1432-198X | |
Year | 2024 |
Publisher | Springer |
Accepted author manuscript | License File Access Level Anyone |
Digital Object Identifier (DOI) | https://doi.org/10.1007/s00467-024-06281-0 |
Publication dates | |
Online | 23 Jan 2024 |
Publication process dates | |
Accepted | 02 Jan 2024 |
Deposited | 06 Aug 2024 |
Copyright holder | © 2024, The Author |
Additional information | This version of the article has been accepted for publication, after peer review (when applicable) and is subject to Springer Nature’s AM terms of use, but is not the Version of Record and does not reflect post-acceptance improvements, or any corrections. The Version of Record is available online at: http://dx.doi.org/10.1007/s00467-024-06281-0 |
https://repository.uel.ac.uk/item/8y17q
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Accepted author manuscript
ARPKD_MENA_Accepted Version.pdf | ||
License: Springer Nature Terms of Use for accepted manuscripts of subscription articles, books and chapters | ||
File access level: Anyone |
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