TY - JOUR
T1 - Recovery From Dialysis in Patients With Primary Hyperoxaluria Type 1 Treated With Pyridoxine
T2 - A Report of 3 Cases
AU - Lorenz, Elizabeth C.
AU - Lieske, John C.
AU - Seide, Barbara M.
AU - Olson, Julie B.
AU - Mehta, Ramila
AU - Milliner, Dawn S.
N1 - Funding Information:
Funding for this work was provided by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); the RKSC ( U54DK083908 ), a member of the Rare Diseases Clinical Research Network of the Office of Rare Diseases Research; the National Center for Advancing Translational Sciences of the National Institutes of Health; and the Oxalosis and Hyperoxaluria Foundation (OHF). Dr Lorenz is supported by the NIDDK (award number DK 123313 ). The funders had no role in defining the content of this report.
Funding Information:
Elizabeth C. Lorenz, MD, John C. Lieske, MD, Barbara M. Seide, CCRP, Julie B. Olson, RN, CCRP, Ramila Mehta, MS, and Dawn S. Milliner, MD. Funding for this work was provided by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); the RKSC (U54DK083908), a member of the Rare Diseases Clinical Research Network of the Office of Rare Diseases Research; the National Center for Advancing Translational Sciences of the National Institutes of Health; and the Oxalosis and Hyperoxaluria Foundation (OHF). Dr Lorenz is supported by the NIDDK (award number DK 123313). The funders had no role in defining the content of this report. Dr Lieske reports receiving grants from Allena, Alnylam, Dicerna, OxThera, Retrophin, and Siemens; receiving honoraria from Alnylam, American Board of Internal Medicine (ABIM), Dicerna, Orfan, OxThera, and Retrophin; serving as a consultant for ABIM, Allena, Alnylam, Dicerna, Orfan, OxThera, Retrophin, and Siemens; and serving as a scientific advisor or member of ABIM, Kidney International, and the OHF; all outside of the submitted work. Dr Milliner reports receiving grants from Allena, Alnylam, Dicerna, and OxThera; receiving honoraria from Alnylam; serving as a consult for Allena, Alnylam, Dicerna, and OxThera; serving on an advisory committee for Alnylam, a monitoring committee for a clinical trial conducted by Dicerna, and a data safety monitoring board for a clinical trial by OxThera, all outside the submitted work. The other authors declare that they have no relevant financial interests. We thank the staff of the Mayo Clinic Hyperoxaluria Center, referring physician Dr Christoph Eggert, and the many physicians and patients who have contributed to the RKSC PH Registry. The authors declare that the patients reported here provided consent for use of their medical records for research and that this work was performed under approval of the Mayo Clinic Institutional Review Board. Received April 24, 2020. Evaluated by 2 external peer reviewers, with direct editorial input from a Deputy Editor. Accepted in revised form July 2, 2020.
Publisher Copyright:
© 2020 National Kidney Foundation, Inc.
PY - 2021/5
Y1 - 2021/5
N2 - Primary hyperoxaluria type 1 (PH1) is a genetic disorder characterized by overproduction of oxalate and eventual kidney failure. Kidney failure is usually irreversible in PH1. However, in patients with PH1 homozygous for the G170R mutation (in which the glycine at amino acid 170 is replaced by an arginine), pyridoxine is an enzyme cofactor and decreases urinary oxalate excretion by reducing hepatic oxalate production. We report recovery from dialysis in 3 patients with PH1 homozygous for the G170R mutation in response to pharmacologic-dose pyridoxine treatment. Median age at initiation or resumption of pyridoxine treatment was 37 (range, 20-53) years, and median daily pyridoxine dose was 8.8 (range, 6.8-14.0) mg per kilogram of body weight. Duration of hemodialysis before recovery of kidney function was 10 (range, 5-19) months. Plasma oxalate concentration improved after recovery of kidney function. At a median of 3 (range, 2-46) months following discontinuation of hemodialysis, estimated glomerular filtration rate was 34 (range, 23-52) mL/min/1.73 m2, plasma oxalate concentration was 8.8 (range, 4.6-11.3) μmol/L, and urinary oxalate excretion was 0.93 (range, 0.47-1.03) mmol/d. Kidney function was maintained during a median of 3.2 (range, 1.3-3.8) years of follow-up. These observations suggest that kidney failure may be reversible in a subset of patients with PH1 homozygous for the G170R mutation treated with pharmacologic-dose pyridoxine.
AB - Primary hyperoxaluria type 1 (PH1) is a genetic disorder characterized by overproduction of oxalate and eventual kidney failure. Kidney failure is usually irreversible in PH1. However, in patients with PH1 homozygous for the G170R mutation (in which the glycine at amino acid 170 is replaced by an arginine), pyridoxine is an enzyme cofactor and decreases urinary oxalate excretion by reducing hepatic oxalate production. We report recovery from dialysis in 3 patients with PH1 homozygous for the G170R mutation in response to pharmacologic-dose pyridoxine treatment. Median age at initiation or resumption of pyridoxine treatment was 37 (range, 20-53) years, and median daily pyridoxine dose was 8.8 (range, 6.8-14.0) mg per kilogram of body weight. Duration of hemodialysis before recovery of kidney function was 10 (range, 5-19) months. Plasma oxalate concentration improved after recovery of kidney function. At a median of 3 (range, 2-46) months following discontinuation of hemodialysis, estimated glomerular filtration rate was 34 (range, 23-52) mL/min/1.73 m2, plasma oxalate concentration was 8.8 (range, 4.6-11.3) μmol/L, and urinary oxalate excretion was 0.93 (range, 0.47-1.03) mmol/d. Kidney function was maintained during a median of 3.2 (range, 1.3-3.8) years of follow-up. These observations suggest that kidney failure may be reversible in a subset of patients with PH1 homozygous for the G170R mutation treated with pharmacologic-dose pyridoxine.
KW - Primary hyperoxaluria (PH)
KW - case report
KW - dialysis independence
KW - hepatic oxalate production
KW - kidney function
KW - nephrolithiasis
KW - oxalate
KW - pyridoxine
KW - renal recovery
KW - reversible kidney failure
KW - vitamin B
UR - http://www.scopus.com/inward/record.url?scp=85095984360&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85095984360&partnerID=8YFLogxK
U2 - 10.1053/j.ajkd.2020.07.017
DO - 10.1053/j.ajkd.2020.07.017
M3 - Article
C2 - 32891627
AN - SCOPUS:85095984360
VL - 77
SP - 816
EP - 819
JO - American Journal of Kidney Diseases
JF - American Journal of Kidney Diseases
SN - 0272-6386
IS - 5
ER -