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Case Reports
. 2018 Jul;94(1):187-188.
doi: 10.1111/cge.13242. Epub 2018 Mar 13.

Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome

F Anglani  1 , L Terrin  1 , M Brugnara  2 , M Battista  3 , V Cantaluppi  3 , M Ceol  1 , L Bertoldi  4 , G Valle  4 , M P Joy  5 , B R Pober  5 , M Longoni  5
Affiliations
Case Reports

Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome

F Anglani et al. Clin Genet. 2018 Jul.

Abstract

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.

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Conflict of interest statement

Conflict of Interest statement

No conflicts of interest.

Figures

Fig. 1
Fig. 1
A Comparison of proximal tubular dysfunction in DD and DB/FOAR diseases due to ClC-5 and Megalin impairment, respectively. B Sequence variants in the probands and DB/FOAR patients. p.(Ile81Asn) (case 1) and p.(Arg2542Cys) (case 2) are in a LDL-receptor class A and B, respectively.
See this image and copyright information in PMC

References

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