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- W4200536904 abstract "A 37-year-old man with unremarkable medical history was referred to our nephrology department for unilateral left nephrocalcinosis, incidentally discovered on imaging for chronic low back pain (Figure 1, arrow). On clinical examination, we were struck by a lateralized overgrowth of the left hemibody (Figure 2). An abdominal computed tomography scan with 3-dimensional reconstruction made the diagnosis of medullary sponge kidney (with precaliceal canalicular ectasia predominantly seen in the left kidney) and did not show any other abnormality (Supplementary Figure S1). Given this clinical presentation, a genetic analysis was carried out and revealed partial paternal uniparental isodisomy of the 11p15 region with a mosaic distribution (methylation gain in the H19/IGF2:IG region and methylation loss in the KCNQ1OT1:TSS region) in ∼20% of analyzed cells, thus confirming the diagnosis of Beckwith-Wiedemann syndrome. This human genomic imprinting disorder is associated with genetic or epigenetic changes on the 11p15 chromosome region, which regulates fetal and postnatal growth. The underlying genetic mosaicism is responsible for a wide variety of phenotypic expressions: from the classical association of embryonal tumors, abdominal wall defects, and macroglossia in pediatrics, to a later malignancy-free presentation, such as in our patient. Among these clinical manifestations, urological abnormalities are frequent (up to 60% of cases) and polymorphous, including cystic disorder, nephrocalcinosis, and medullary sponge kidney. This highlights the value of targeted genetic analysis when facing atypical urological manifestations, especially in case of syndromic presentation. Figure 2Patient’s photographs showing lateralized overgrowth of the left arm. View Large Image Figure Viewer Download Hi-res image" @default.
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- W4200536904 date "2021-11-01" @default.
- W4200536904 modified "2023-10-17" @default.
- W4200536904 title "Unilateral nephrocalcinosis" @default.
- W4200536904 doi "https://doi.org/10.1016/j.kint.2021.03.021" @default.
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