Incidental Detection of Dent-2 Disease in an Infant with Febrile Proteinuria

Salihu, Shpetim; Tosheska, Katerina; Cekovska, Svetlana; Tasic, Velibor

doi:10.1159/000490147

Cited by 1 publication

(1 citation statement)

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“…In other reports, one case of DD1 and one of DD2 only showed persistent proteinuria (Salihu et al 2018;Güngör et al 2020), and the main clinical sign in a DD1 family was CKD of unknown etiology (Landini et al 2020). Cases of brothers with the same CLCN5 or OCRL mutations, but different phenotypes have also been described (Igarashi et al 1998;Bökenkamp et al 2009;Zhang et al 2017a;Zaniew et al 2017;Trautmann et al 2018;Fischer et al 2018).…”

Section: Phenotypic Heterogeneity Of Dent Diseasementioning

confidence: 94%

Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon

et al. 2020

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Dent disease is a rare genetic proximal tubulopathy which is under-recognized. Its phenotypic heterogeneity has led to several different classifications of the same disorder, but it is now widely accepted that the triad of symptoms low-molecular-weight proteinuria, hypercalciuria and nephrocalcinosis/nephrolithiasis are pathognomonic of Dent disease. Although mutations on the CLCN5 and OCRL genes are known to cause Dent disease, no such mutations are found in about 25-35% of cases, making diagnosis more challenging. This review outlines current knowledge regarding Dent disease from another perspective. Starting from the history of Dent disease, and reviewing the clinical details of patients with and without a genetic characterization, we discuss the phenotypic and genetic heterogeneity that typifies this disease. We focus particularly on all those confounding clinical signs and symptoms that can lead to a misdiagnosis. We also try to shed light on a concealed aspect of Dent disease. Although it is a proximal tubulopathy, its misdiagnosis may lead to patients undergoing kidney biopsy. In fact, some individuals with Dent disease have high-grade proteinuria, with or without hematuria, as in the clinical setting of glomerulopathy, or chronic kidney disease of uncertain origin. Although glomerular damage is frequently documented in Dent disease patients' biopsies, there is currently no reliable evidence of renal biopsy being of either diagnostic or prognostic value. We review published histopathology reports of tubular and glomerular damage in these patients, and discuss current knowledge regarding the role of CLCN5 and OCRL genes in glomerular function.

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