Les maladies rénales kystiques : au-delà de la polykystose rénale autosomique dominante
(2024) Louvain médical — Vol. 143, n° 9-10, p. 554-559 (2024)
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- Abstract
- (en) [Cystic kidney diseases: beyond autosomal dominant polycystic kidney disease] In this article, we discuss the differential diagnosis of cystic kidney diseases based on a case of oro-facio-digital syndrome type 1. Establishing the correct diagnosis requires a multidisciplinary approach that includes clinical, radiologic, and genetic evaluations to better understand the prognosis, renal and extra-renal management, and specific genetic implications of each disease. Our case illustrates the importance of a detailed personal and family history taking and the significant diagnostic input provided by new genetic sequencing techniques.
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Verhellen, C., Gillion, V., Van Regemorter, E., Van Nieuwenhove, S., Dahan, K., & Demoulin, N. (2024). Les maladies rénales kystiques : au-delà de la polykystose rénale autosomique dominante. Louvain médical, 143(9-10), 554-559. https://hdl.handle.net/2078.5/239966 (Original work published 2024)