Cardiac Abnormalities in Primary Hyperoxaluria

Abstract

Background In patients with primary hyperoxaluria (PH), oxalate overproduction can result in recurrent urolithiasis and nephrocalcinosis, which in some cases results in a progressive decline in renal function, oxalate retention, and systemic oxalosis involving bone, retina, arterial media, peripheral nerves, skin, and heart. Oxalosis involving the myocardium or conduction system can potentially lead to heart failure and fatal arrhythmias. Methods and Results A retrospective review of our institution’s database was conducted for all patients with a confirmed diagnosis of PH between 1/1948 and 1/2006 (n=103). Electrocardiogram (ECG) and echocardiography were used to identify cardiac abnormalities. Ninety-three patients fulfilled the inclusion criteria, 58% were male. Mean follow-up was 11.9 (median 8.8) years. In 38 patients who received an ECG or echocardiography, 31 were found to have any cardiac abnormalities. Cardiac findings correlated with decline in renal function. Conclusions Our data suggests that physicians caring for patients with PH should pay close attention to cardiac status, especially if renal function is impaired.

An Unusual Presentation of a Child with Hyperoxaluria

“…As the glomerular filtration rate falls below 30 to 40 mL/min/1.73 m 2 , the combination of reduced renal function and continuous oxalate overproduction by the liver may result in systemic oxalosis (10). Oxalate deposition can occur in other organs such as bones, joints, eyes, heart, vessels, nerves, brain and liver resulting in severe morbidity and mortality (11)(12)(13). Bone tends to be the major repository of excess oxalate, which consequently increases resorption and declines osteoblast activity, leading to spontaneous fracture, pain, erythropoietin-resistant anemia and myelophthisis due to extensive bone-marrow deposition of calcium oxalate crystals (5).…”

Massive bone marrow involvement in an end stage renal failure case with erythropoietin-resistant anemia and primary hyperoxaluria

“…There have only been a few cases of PH3 in literature and no specific enzyme deficiency has been identified. 1,11,12 PH1 is the most serious cause of primary hyperoxaluria. Recurrent urolithiasis, progressive nephrocalcinosis are the main manifestations of PH.…”

“…1 Primary hyperoxaluria type 1 (PH1) occurs due to the functional defect of the liver enzyme alanine aminotransferase (AGT). [2][3][4] Primary hyperoxaluria type 2 (PH2) is rare and develops secondary to failure of the cytosolic enzyme D-glycerate dehydrogenase.…”

“…5 Oxalate is an end product and it is not metabolized. 1,6 The kidneys play the most important role in excreting oxalate from the systemic circulation and due to the hyperoxaluria recurrent kidney stone formation, nephrocalcinosis and progressive renal failure develops. 3,5,7 The kidney dysfunction and decreased urinary excretion results in a rise in plasma oxalate and systemic deposition of over produced oxalate.…”

Hyperoxaluria and Rapid Development of Renal Failure Following a Combined Liver and Kidney Transplantation: Emphasis on Sequential Transplantation

“…Patients with PH I especially those of pediatric age group have significant morbidity and mortality post organ transplantation and need very careful and expertise post operative care. These patients may have a large load of oxalate that not only affects the kidneys but also other organs such as the cardiovascular system leading to significant morbidity and mortality (Mookadam et al 2010). The large oxalate load may exert its effect on the newly transplanted kidney even in the setting of a combined LK transplantation subjecting the patients to considerable morbidity and mortality.…”