1. Apical Sparing of Longitudinal Strain, Left Ventricular Rotational Abnormalities, and Short-Axis Dysfunctionin Primary Hyperoxaluria Type 1
- Author
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Bernd Hoppe, Ruth Lagies, Floris E.A. Udink ten Cate, Narayanswami Sreeram, and Bodo B. Beck
- Subjects
Adult ,medicine.medical_specialty ,Rotation ,medicine.medical_treatment ,Calcium oxalate ,Primary hyperoxaluria ,Ventricular Dysfunction, Left ,chemistry.chemical_compound ,Internal medicine ,Mitral valve ,Humans ,Medicine ,medicine.diagnostic_test ,business.industry ,medicine.disease ,Echocardiography, Doppler ,Blood pressure ,medicine.anatomical_structure ,Endocrinology ,chemistry ,Ventricle ,Liver biopsy ,Hyperoxaluria, Primary ,Cardiology ,Female ,Hemodialysis ,Nephrocalcinosis ,Cardiology and Cardiovascular Medicine ,business - Abstract
A 24-year-old woman with end-stage renal failure because of primary hyperoxaluria type 1 was evaluated in our hospital for systemic calcium oxalate deposition in the course of long-term (5 years) hemodialysis therapy. Diagnosis of primary hyperoxaluria type 1, a hereditary cause of calcium oxalate kidney stones or progressive nephrocalcinosis that frequently results in end-stage renal failure,1 was made by liver biopsy (reduced alanine:glyoxylate aminotransferase activity, 3.0 µmol/h per milligram protein; normal, 19.1–47.9) and by genetic testing (homozygosity for the c.302 T>C, AGXT mutation). Her plasma oxalate level on regular hemodialysis (3× per week over 4 hours) was increased (86 µmol/L predialysis; normal
- Published
- 2013
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