Phenotypic expression of primary hyperoxaluria: Comparative features of types I and II

Milliner, Dawn S.; Wilson, David M.; Smith, Lynwood H.

doi:10.1046/j.1523-1755.2001.00462.x

Cited by 125 publications

(79 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The degree of hyperoxaluria is lower and the clinical course more favorable than in PH-I. 17 For these reasons, kidney-alone transplantation is recommended for patients with PH-II. At last followup, our cadaveric kidney transplant recipient with PH-II remained free of stone formation, with a renal allograft clearance rate of 83 mL/min/1.73 m 2 nearly 21 years posttransplantation.…”

Section: Discussionmentioning

confidence: 99%

“…17 For this reason, it is essential that the diagnosis of PH-I be confirmed by hepatic enzyme analysis before liver transplantation is recommended (Table 2). In the future, analysis of DNA for known mutations may provide an alternative means of diagnostic confirmation.…”

Section: Discussionmentioning

confidence: 99%

“…15 Although LKT for correction of the metabolic defect and renal failure is now widely adopted for the treatment of PH-I, controversy remains regarding specific indications for and timing of hepatic transplantation. 16 In PH-II, characterized by a more benign clinical course 17 and localization of the enzyme defect to organs other than liver, 18,19 experience has been limited to kidney-alone transplantation.…”

mentioning

confidence: 99%

See 2 more Smart Citations

Combined liver-kidney and kidney-alone transplantation in primary hyperoxaluria

Monico

Milliner

2001

Liver Transplantation

View full text Add to dashboard Cite

Combined liver-kidney and kidney-only transplantation outcomes in primary hyperoxaluria (PH) are described. Strategies for the selection of type and timing of transplantation and pretransplantation and posttransplantation management are reviewed. Records were reviewed for 16 patients with PH who received 9 liver-kidney and 10 kidney-only transplants. Plasma oxalate values declined from 61 ؎ 42 mol/L pretransplantation to 9 ؎ 6 mol/L 1 month after transplantation in liver-kidney transplant recipients and 92 ؎ 19 to 9 ؎ 5 mol/L in kidney-only transplant recipients. In most liver-kidney transplant recipients, hyperoxaluria persisted for 6 to 18 months after transplantation. Follow-up was 3.5 ؎ 4.1 years in liver-kidney and 4.5 ؎ 6.3 years in kidney-alone transplant recipients. Patient survival rates were 78% for liver-kidney and 89% for kidney-only transplant recipients. No hepatic allografts were lost. Three of 9 liverkidney and 6 of 10 kidney-alone transplants lost renal allograft function. In those with functioning kidneys, renal clearance was 45.1 ؎ 19.5 mL/min/1.73 m 2 in liverkidney transplant recipients and 49.5 ؎ 26.1 mL/min/ 1.73 m 2 in kidney-only transplant recipients at last follow-up. Kaplan-Meier 1-, 2-, 3-, and 5-year renal allograft survival rates for patients undergoing transplantation after 1984 were 78%, 78%, 52%, and 52% in liver-kidney transplant recipients and 86%, 71%, 54%, and 36% in kidney-only transplant recipients. Simultaneous grafting of liver and kidney after the development of renal insufficiency is recommended for the majority of patients with PH type I (PH-I). Kidney-alone transplantation is recommended for those with pyridoxine-responsive type I disease because pharmacological therapy allows favorable management of oxalate production in this situation. Kidney-alone transplantation also is recommended for PH type II (PH-II). This disease is less severe than PH-I, and it is currently unknown whether liver transplantation will correct the metabolic defect responsible for PH-II. (Liver Transpl 2001;7:954-963.)

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

See 1 more Smart Citation

Combined liver-kidney and kidney-alone transplantation in primary hyperoxaluria

Monico

Milliner

2001

Liver Transplantation

View full text Add to dashboard Cite

show abstract

“…Like the type 1 disease, PH2 is characterised by recurrent stone formation and nephrocalcinosis, although systemic involvement is unusual (Chlebeck et al, 1994;Kemper et al, 1997) (Milliner et al, 2001;Johnson et al, 2002). Urine oxalate excretion is elevated to a similar degree to that seen in primary hyperoxaluria type 1, but renal failure tends to occur later (Milliner et al, 2001;Johnson et al, 2002). PH2 is caused by mutations in the GRHPR gene (MIM# 604296), which encodes a protein with glyoxylate reductase (GR, EC1.1.1.26/79) and hydroxypyruvate reductase (HPR) activities (Cramer et al, 1999;Rumsby and Cregeen, 1999).…”

Section: Introductionmentioning

confidence: 99%

Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2

et al. 2003

View full text Add to dashboard Cite

Primary hyperoxaluria type 2, an inherited autosomal recessive disorder of endogenous oxalate overproduction, is caused by mutations in the GRHPRIn addition, a splice variant lacking 28 bp of exon 1 was expressed in a number of tissues but is of unknown function. Two polymorphisms, c.579A>G in exon 6 and a (CT) n microsatellite in intron 8 were identified. Expression studies showed that the G165D and R302C mutants had glyoxylate reductase activity 1.5 and 5.6% respectively of the wild type protein. Both mutant proteins were unstable on purification. Although there is wide expression of the GRHPR mRNA demonstrated by northern blot analysis, our study shows that GRHPR protein distribution is predominantly hepatic and concludes that PH2, like the related type 1 disease, is primarily a disorder affecting hepatic glyoxylate metabolism.

show abstract

“…PH2 is a less aggressive form of PH with better preservation of renal function and lower incidence of end stage renal disease and less severe nephrocalcinosis compared to PH1. The differences are accounted for by the higher oxalate excretion in PH1 and altered urine composition with reduced urinary levels of citrate and magnesium in PH1 compared to PH2 [54] . PH3 generally presents with recurrent nephrolithiasis in the early decades of life.…”

Section: Clinical Presentationmentioning

confidence: 99%