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Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai‐Barrow syndrome
Author(s) -
Anglani F.,
Terrin L.,
Brugnara M.,
Battista M.,
Cantaluppi V.,
Ceol M.,
Bertoldi L.,
Valle G.,
Joy M.P.,
Pober B.R.,
Longoni M.
Publication year - 2018
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13242
Subject(s) - hypercalciuria , nephrocalcinosis , phenotype , exome sequencing , medicine , proteinuria , clinical phenotype , renal tubular acidosis , kidney stones , kidney disease , endocrinology , genetics , pathology , kidney , biology , gene , urinary system , acidosis
Whole exome sequencing detected novel likely pathogenic variants in LRP2 gene in 2 patients presenting with hearing and vision loss, and the Dent disease (DD) classical renal phenotype, that is, low molecular weight proteinuria (LMWP), hypercalciuria and nephrocalcinosis/nephrolithiasis. We propose that a subset of patients presenting as DD may represent unrecognized cases or mild forms of Donnai‐Barrow/facio‐oculo‐acustico‐renal (DB/FOAR) syndrome or be on the phenotypic continuum between the 2 conditions.