Primary hyperoxaluria diagnosed after kidney transplantation: a case report and literature review

Abstract

Background Primary hyperoxaluria (PH) is a rare inherited autosomal recessive disease caused by disturbed glyoxylate metabolism. The disease is characterized by calcium oxalate crystal deposition in various organs, especially in the kidney. Due to the lack of current understanding of PH, nearly all patients are only initially diagnosed with PH when recurrent lithiasis and progressive end-stage renal disease occur. Many cases are not diagnosed in patients until renal allograft insufficiency occurs after renal transplantation. This case report and literature review aim to emphasize the need for careful pre-transplant PH screening of patients with bilateral nephrocalcinosis or nephrolithiasis. Case presentation Renal allograft insufficiency was diagnosed as PH after kidney transplantation. Here, we detail the complete clinical course, including computed tomography images of the original kidney and renal graft, histopathological images of a biopsy of the transplanted kidney, the results of laboratory and molecular genetic tests, and the treatment. In addition, we reviewed the literature from 2000 to 2021 and analyzed 19 reported cases of PH diagnosed after kidney transplantation, and provide a summary of the characteristics, complications, treatment, and prognosis of these cases. Conclusions By reviewing and analyzing these cases, we concluded that patients with a history of nephrocalcinosis or nephrolithiasis in both kidneys need preoperative screening for PH and appropriate treatment before kidney transplantation. Delayed graft function caused by PH is easily misdiagnosed as acute rejection, and needle biopsy should be performed at an early stage.

Diagnostic policies on nephrolithiasis/nephrocalcinosis of possible genetic origin by Italian nephrologists: a survey by the Italian Society of Nephrology with an emphasis on primary hyperoxaluria

“…This suggests that the suspicion of primary hyperoxaluria is not ignored in adult patients by the Nephrologists participating in the survey. This is particularly important given the fact that, in a significant proportion (about 20 percent) of patients, the condition can remain asymptomatic or paucisymptomatic until adulthood, occurring even relatively later in life [ 9 ]. In the large OxalEurope case series, out of 653 patients with PH1 in whom the date of diagnosis was known, it occurred in adulthood in 197 cases (30.2%) [Metry E, personal communication ].…”

Recurrent disease after pediatric renal transplantation

“…Lumasiran is approved for use in the European Union and the United States in patients with PH1 and may prove beneficial for preventing native kidney failure as well as for avoiding the need for liver transplantation with renal transplantation in this population. 86,87 A second drug, nedosiran, has also been approved for PH1. Since this medication targets the mRNA for hepatic lactate dehydrogenase (LDHA), this medication also has potential benefits for patients with PH2 and PH3, as well as those with PH1.…”

“…Inhibition of this gene reduces the amount of glyoxylate substrate that can be converted into oxalate. Lumasiran is approved for use in the European Union and the United States in patients with PH1 and may prove beneficial for preventing native kidney failure as well as for avoiding the need for liver transplantation with renal transplantation in this population 86,87 . A second drug, nedosiran, has also been approved for PH1.…”

Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope

“…Screening of patients with dialysis and stage 5 CKD of unknown aetiology should also be encouraged, using available resources to diagnose cortical and medullary nephrocalcinosis that could otherwise be missed or inaccurately labelled as hyperechogenic or atrophic kidneys. Such an approach should avoid catastrophic diagnosis of PH after kidney transplantation, which is associated with a rate of early graft failure of >75% and serious comorbidities, and is relatively common in low-resource countries 119 .…”