Limited Treatment Options in Primary Hyperoxaluria with Renal Failure

被引:1
作者
Geiger, Kyle [1 ]
Mroch, Henry [1 ,2 ]
机构
[1] Washington State Univ, Elson S Floyd Coll Med, 412 E Spokane Falls Blvd, Spokane, WA 99202 USA
[2] Kidney Care Spokane, Spokane, WA USA
关键词
Primary hyperoxaluria; Renal biopsy; Chronic hemodialysis; Chronic renal failure; Genetic diseases; KIDNEY-TRANSPLANTATION;
D O I
10.1159/000510143
中图分类号
R5 [内科学]; R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
1002 ; 100201 ;
摘要
Primary hyperoxaluria (PH) is a rare autosomal recessive metabolic disorder where serum oxalate levels rise due to overproduction. The kidney tubule is a main target for oxalate deposition, resulting in damage to the organ. Kidney failure is rare in these patients. We present a 67-year-old female with hemodialysis-dependent end-stage renal disease likely due to PH type 2 or 3. With extremely high levels of serum oxalate (60.4 mu mol/L), this patient had minimal treatment options for her rare disease. This report details a unique presentation of a rare disease where kidney biopsy was instrumental. (c) 2020 The Author(s) Published by S. Karger AG, Basel
引用
收藏
页码:104 / 108
页数:5
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