Late-onset primary hyperoxaluria triggered by hypothyroidism and presenting as rapidly progressive renal failure--description of a new mutation.

Primary hyperoxaluria type 1 (PH1) is a rare autosomal metabolic recessive disease, caused by the deficiency of the liver peroxysomal alanine:glyoxylate aminotransferase (AGT), characterized by accumulation of calcium oxalate crystals in kidneys and others organs. We present the case of an elderly woman with PH1, presenting as acute renal failure. Precipitation of calcium oxalate crystals was probably due to amiodarone-induced severe hypothyroidism. Residual AGT activity is associated with the G170R (G630A) mutation. A new mutation of AGT, called R36C, was also discovered; the role of this new mutation is actually not known

Albumin losses during hemodiafiltration: all dialyzers are not created equal - a case report.

Online hemodiafiltration (OL-HDF) is associated with better removal of both small and middle molecules and might improve survival compared to conventional hemodialysis (HD). Nevertheless, hemodiafiltration (HDF) can lead to an increase in albumin loss across the dialyzer, especially with high permeability membrane and high convective volume (CV). We present the case of a patient treated by OL-HDF who developed severe hypoalbuminemia resulting from massive albumin loss into dialysate. A 71-year-old woman with ESRD started renal replacement therapy in December 2016. She was treated by high volume post-dilution OL-HDF, 4 h, 3 times per week. The dialyzer was the Phylther HF20SD (a 2.0m heat sterilized high flux (HF) polyphenylene membrane from Bellco). At the initiation of dialysis, the serum albumin was 4.0 g/dl. During the following months, the patient developed severe hypoalbuminemia. The lowest value observed was 2.26 g/dl in July 2017. Diagnostic workup excluded nephrotic syndrome, hepatic failure and malabsorption. The patient was shifted from OL-HDF to standard HF HD, keeping the same dialyzer and dialysis schedule. During the following months, we observed a progressive correction of the hypoalbuminemia (3.82 g/dl at last follow-up). To precise the impact of the epuration technique on the albumin losses in this patient, we measured the amount of albumin in dialysate during one session with the Phylther HF20SD on OL-HDF and one session with the same filter but on standard HD. The CV was 29.0 l for the HDF session. The total albumin losses were 23.6 g on OL-HDF and 4.6 g on HD. OL-HDF can lead to significant albumin loss into the dialysate, especially with high permeability membrane and high CV. When prescribing post-dilutional OL-HDF, the choice of the dialyzer membrane should be made with caution. Users of the steam sterilized polyphenylene membrane, the Phylther SD, should be informed of the risk of large albumin loss with this membrane during post-dilution OL-HDF