This is a case report of a 23-year-old female patient on hemodialysis for 1.5 years due to nephrocalcinosis and recurrent kidney stones. A plain abdominal x-ray showed nephrocalcinosis and extrarenal involvement such as bone disease and an unusual location of crystals in the digestive tract characterized by calcifications in the colonic wall (Figure 1). This patient also presented a suggestive cardiac involvement of the disease (Figure 2). Plasma oxalate levels were high and genetic testing revealed primary hyperoxaluria type 111. Fargue S, Acquaviva Bourdain C. Primary hyperoxaluria type 1: pathophysiology and genetics. Clin Kidney J. 2022;15(Suppl. 1):i4–8. doi: http://dx.doi.org/10.1093/ckj/sfab217. PubMed PMID: 35592619.
https://doi.org/10.1093/ckj/sfab217...
. The patient had heterozygous compound mutations in AGXT previously described (- allele 1: c.508G>A;p.Gly170Arg – allele 2: c.661_663delTCC;p.Ser221del)11. Fargue S, Acquaviva Bourdain C. Primary hyperoxaluria type 1: pathophysiology and genetics. Clin Kidney J. 2022;15(Suppl. 1):i4–8. doi: http://dx.doi.org/10.1093/ckj/sfab217. PubMed PMID: 35592619.
https://doi.org/10.1093/ckj/sfab217...
,22. Poloni JA, Garcia CD, Rotta LN, Perazella MA. Calcium oxalate crystalluria points to primary hyperoxaluria type 1. Kidney Int. 2016;89(1):250. doi: http://dx.doi.org/10.1016/j.kint.2015.11.001. PubMed PMID: 26759051.
https://doi.org/10.1016/j.kint.2015.11.0...
. This diagnosis is very important for both hemodialysis planning and renal transplant strategy. A literature review shows that 3 cases of digestive tract deposits identified by abdominal ultrasound or computed tomography have been reported to date33. Hasni Bouraoui I, Hajlaoui W, Jemni H, Arifa N, Mrad Dali K, Daadoucha A, et al. Localisation digestive exceptionnelle des dépôts cristallins dans l’hyperoxalurie primitive [Exceptional digestive location of crystal deposits in primary hyperoxaluria]. Arch Pediatr. 2009;16(11):1453–6. doi: http://dx.doi.org/10.1016/j.arcped.2009.07.026. PubMed PMID: 19747802.
https://doi.org/10.1016/j.arcped.2009.07...
. Importantly, there are new treatment options available for this disease44. Groothoff JW, Metry E, Deesker L, Garrelfs S, Acquaviva C, Almardini R, et al. Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope. Nat Rev Nephrol. 2023;19(3):194–211. doi: http://dx.doi.org/10.1038/s41581-022-00661-1. PubMed PMID: 36604599.
https://doi.org/10.1038/s41581-022-00661...
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References
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1.Fargue S, Acquaviva Bourdain C. Primary hyperoxaluria type 1: pathophysiology and genetics. Clin Kidney J. 2022;15(Suppl. 1):i4–8. doi: http://dx.doi.org/10.1093/ckj/sfab217. PubMed PMID: 35592619.
» https://doi.org/10.1093/ckj/sfab217 -
2.Poloni JA, Garcia CD, Rotta LN, Perazella MA. Calcium oxalate crystalluria points to primary hyperoxaluria type 1. Kidney Int. 2016;89(1):250. doi: http://dx.doi.org/10.1016/j.kint.2015.11.001. PubMed PMID: 26759051.
» https://doi.org/10.1016/j.kint.2015.11.001 -
3.Hasni Bouraoui I, Hajlaoui W, Jemni H, Arifa N, Mrad Dali K, Daadoucha A, et al. Localisation digestive exceptionnelle des dépôts cristallins dans l’hyperoxalurie primitive [Exceptional digestive location of crystal deposits in primary hyperoxaluria]. Arch Pediatr. 2009;16(11):1453–6. doi: http://dx.doi.org/10.1016/j.arcped.2009.07.026. PubMed PMID: 19747802.
» https://doi.org/10.1016/j.arcped.2009.07.026 -
4.Groothoff JW, Metry E, Deesker L, Garrelfs S, Acquaviva C, Almardini R, et al. Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope. Nat Rev Nephrol. 2023;19(3):194–211. doi: http://dx.doi.org/10.1038/s41581-022-00661-1. PubMed PMID: 36604599.
» https://doi.org/10.1038/s41581-022-00661-1
Publication Dates
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Publication in this collection
12 Feb 2024 -
Date of issue
Apr-Jun 2024
History
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Received
29 Mar 2023 -
Accepted
20 Dec 2023