A plain abdominal x-ray may direct the diagnosis of primary hyperoxaluria

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 1¹. The patient had heterozygous compound mutations in AGXT previously described (- allele 1: c.508G>A;p.Gly170Arg – allele 2: c.661_663delTCC;p.Ser221del)¹,². 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 date³. Importantly, there are new treatment options available for this disease⁴.

Figure 1
Plain abdominal x-ray showing colonic calcifications (arrow) and nephrocalcinosis (arrow head) in a patient diagnosed with primary hyperoxaluria type 1.

Figure 2
A. Cardiac MRI showed dilated cardiomyopathy with significant impairment of global left and right ventricle function. B. Delayed enhancement revealed linear mesocardial fibrosis in the septal region (arrows).

References

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  » https://doi.org/10.1093/ckj/sfab217
• ^2.
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  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.
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• ^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

• Publication in this collection
  12 Feb 2024
• Date of issue
  Apr-Jun 2024

History

• Received
  29 Mar 2023
• Accepted
  20 Dec 2023