title: Nocturnal home hemodialysis for a patient with type 1 hyperoxaluria.
abstract: Type 1 primary hyperoxaluria is a genetic disorder caused by deficiency of the liver-specific peroxisomal enzyme alanine-glyoxylate aminotransferase. This enzyme deficiency leads to excess oxalate production and deposition of calcium oxalate salts, resulting in kidney failure and systemic oxalosis. Aside from combined liver/kidney transplantation, no curative treatment exists. Various strategies for optimizing dialysis treatment have been evaluated, but neither conventional hemodialysis nor peritoneal dialysis can keep pace with oxalate production in this patient population. In this report, we describe a patient with end-stage renal disease from type 1 primary hyperoxaluria managed with nocturnal home hemodialysis. Performing hemodialysis 8-10 hours each night with blood flow of 350 mL/min and total dialysate volume of 60 L, she has maintained pre- and postdialysis serum oxalate levels at or below the level of supersaturation. We also review published literature regarding oxalate removal in various modalities of dialysis in patients with type 1 primary hyperoxaluria. In our patient, nocturnal hemodialysis has controlled serum oxalate levels better than conventional hemodialysis therapies. Home nocturnal hemodialysis should be considered an option for management of patients with end-stage renal disease from type 1 hyperoxaluria who are awaiting transplantation.
authors.affiliation: Department of Internal Medicine, University of Nebraska Medical Center, Omaha, NE. Electronic address: tplumb@unmc.edu.
authors.forename: Troy J
authors.initials: TJ
authors.lastname: Plumb
authors.forename: Melissa L
authors.initials: ML
authors.lastname: Swee
authors.forename: Jennifer A
authors.initials: JA
authors.lastname: Fillaus
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D001120:Arginine / Q000235:genetics; D002940:Circadian Rhythm; D003131:Combined Modality Therapy; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005998:Glycine / Q000235:genetics; D006437:Hemodialysis, Home; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000097:blood / Q000235:genetics / Q000628:therapy*; D007676:Kidney Failure, Chronic / Q000097:blood / Q000235:genetics / Q000628:therapy*; D010070:Oxalates / Q000097:blood; D011736:Pyridoxine / Q000627:therapeutic use; D000637:Transaminases / Q000172:deficiency / Q000235:genetics
chemical_list: D010070:Oxalates; D001120:Arginine; D000637:Transaminases; C019635:Alanine-glyoxylate transaminase; D011736:Pyridoxine; D005998:Glycine
keywords: Primary hyperoxaluria; dialysis; home hemodialysis; oxalate