Atypical presentation of Dent disease in a patient with interstitial Xp11.22 deletion

J Nephrol. 2021 Dec;34(6):2111-2115. doi: 10.1007/s40620-020-00959-y. Epub 2021 Jan 9.

Stefania Drovandi^#¹, Martina Servetti^#^{2

3}, Andrea Angeletti⁴, Aldamaria Puliti^{2

3}, Patrizia Ronchetto⁵, Elisa Tassano⁵, Gian Marco Ghiggeri⁴, Gianluca Caridi^{6

7}

¹ Division of Nephrology, Dialysis and Transplantation, Department of Internal Medicine, University of Genoa and IRCCS Azienda Ospedaliera Universitaria San Martino, Genoa, Italy.
² UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
³ Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), Genoa, Italy.
⁴ Division of Nephrology, Dialysis and Transplantation, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
⁵ Laboratorio Di Genetica Umana, IRCCS Istituto Giannina Gaslini Genova, Genova, Italy.
⁶ Division of Nephrology, Dialysis and Transplantation, IRCCS Istituto Giannina Gaslini, Genoa, Italy. gianlucacaridi@gaslini.org.
⁷ Laboratory of Molecular Nephrology, Istituto Giannina Gaslini, IRCCS, Via Gerolamo Gaslini 5, 16148, Genova, Italy. gianlucacaridi@gaslini.org.

^# Contributed equally.

No abstract available

Keywords: CLCN5; Dent disease; Hypophosphatemic rickets; SHROOMS4; USP27X.

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