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. 2021 Oct 8;62(1):6-8.
doi: 10.1002/jmd2.12246. eCollection 2021 Nov.

A stone in the bone

Matthieu Halfon  1 , Pierre Cochat  2 , Sebastien Kissling  1 , Nicolas Dattner  3 , Laurence de Leval  3 , Fadi Fakhouri  1 , Menno Pruijm  1 , Olivier Bonny  1   4
Affiliations

A stone in the bone

Matthieu Halfon et al. JIMD Rep. .

Abstract

Primary hyperoxaluria (PH) is a group of diseases due to mutations in genes coding for enzymes involved in oxalate metabolism. Three types of PH are identified depending on the gene mutated. Type 1 is the most frequent with 80% of the cases, while PH2 and PH3 are rarer. The severity of renal involvement varies between the three types. Indeed, between 60% and 80% of PH1 but only 20% of PH2 patients will reach end-stage kidney disease. In PH3 patients, dialysis is uncommon. Because oxalate clearance is impaired in CKD patients, oxalate can precipitate in various organs leading to systemic oxalosis. We report an uncommon presentation of bone oxalosis associated with hypercalcemia in a dialyzed patient. This report emphasizes the difficulties to diagnose primary hyperoxaluria and the challenge of treating dialyzed patients.

Keywords: bone; chronic kidney disease; hypercalcemia; oxalate; oxalosis; primary hyperoxaluria.

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Conflict of interest statement

The authors report no conflict of interest.

Figures

FIGURE 1
FIGURE 1
Optic microscopy of bone biopsy (HE staining). (A) 40× magnification. (B) Same area, 40× with polarized light
FIGURE 2
FIGURE 2
Optic microscopy of bone biopsy (HE staining). (A) 400× magnification. Note the presence of a giant cell (*). (B) Same area, 400× with polarized light
See this image and copyright information in PMC

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