Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry

Deesker, Lisa; Garrelfs, Sander F.; Mandrile, Giorgia; Oosterveld, Michiel J. S.; Cochat, Pierre; Deschênes, Georges; Harambat, Jérôme; Hulton, Sally‐Anne; Gupta, Asheeta; Höppe, Bernd; Beck, Bodo B.; Collard, Laure; Topaloğlu, Rezan; Prikhodina, Larisa; Neuhaus, Thomas J.; Groothoff, Jaap W.; Bacchetta, Justine

doi:10.1016/j.ekir.2022.04.012

Cited by 14 publications

(14 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Patients with PH1 resulting from homozygous p.Gly170Arg or p.Phe152Ile mutations combined with a common polymorphism p.Pro11Leu -the so-called minor allele -are most likely to respond to pyridoxine therapy, resulting in a significant decrease and sometimes normalization of urinary oxalate levels. These patients also have a significantly higher median age of kidney failure onset than patients with PH1 with other, pyridoxine-insensitive mutations 9,10,15 , although kidney failure may still occur in infancy 16 . Other non-truncating PH1 genotypes may also be associated with pyridoxine responsiveness, but evidence in support of such associations is less clear.…”

Section: Rationale For Genetic Assessment In Phmentioning

confidence: 97%

“…Infantile oxalosis, defined as stage 5 CKD due to PH before the age of 1 year is the most severe form of PH1 and is characterized by oxalate depositions causing multi-organ failure 39 . Registry data from 2022 showed that 96% of these patients had signs of systemic oxalosis 16 . Infantile oxalosis has only been reported in children with PH1.…”

Section: Rationale For the Management Of Infantile Oxalosismentioning

confidence: 99%

See 1 more Smart Citation

Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope

et al. 2023

Self Cite

View full text Add to dashboard Cite

Primary hyperoxaluria (PH) is an inherited disorder that results from the overproduction of endogenous oxalate, leading to recurrent kidney stones, nephrocalcinosis and eventually kidney failure; the subsequent storage of oxalate can cause life-threatening systemic disease. Diagnosis of PH is often delayed or missed owing to its rarity, variable clinical expression and other diagnostic challenges. Management of patients with PH and kidney failure is also extremely challenging. However, in the past few years, several new developments, including new outcome data from patients with infantile oxalosis, from transplanted patients with type 1 PH (PH1) and from patients with the rarer PH types 2 and 3, have emerged. In addition, two promising therapies based on RNA interference have been introduced. These developments warrant an update of existing guidelines on PH, based on new evidence and on a broad consensus. In response to this need, a consensus development core group, comprising (paediatric) nephrologists, (paediatric) urologists, biochemists and geneticists from OxalEurope and the European Rare Kidney Disease Reference Network (ERKNet), formulated and graded statements relating to the management of PH on the basis of existing evidence. Consensus was reached following review of the recommendations by representatives of OxalEurope, ESPN, ERKNet and ERA, resulting in 48 practical statements relating to the diagnosis and management of PH, including consideration of conventional therapy (conservative therapy, dialysis and transplantation), new therapies and recommendations for patient follow-up. SectionsUnanswered questions and research agenda Conclusions

show abstract

Section: Rationale For Genetic Assessment In Phmentioning

confidence: 97%

Section: Rationale For the Management Of Infantile Oxalosismentioning

confidence: 99%

Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope

et al. 2023

Self Cite

View full text Add to dashboard Cite

show abstract

“…The recently published data from the OxalEurope registry demonstrated a 10 year overall patient survival >80% for CLKT (20). In patients with infantile PH1 and CLKT the survival for up to 10 years follow-up was 80% in recent publication from the OxalEurope registry (9). However, lower patient survival rates are possible, especially in small centers with less routine (30).…”

Section: Patient Survivalmentioning

confidence: 99%

“…The registry data presented from Calinescu et al showed a kidney survival of 50% after 10 years (4). Data from the OxalEurope registry show an overall 10-year overall kidney transplant survival of >80% and a 80% kidney survival in patients with infantile PH1 (9,20). Some single-center studies observe a comparable outcome: The group from Lyon published a kidney survival of 79% in 14 PH1-patients after a follow up of 5 years (29).…”

Section: Organ Function and Survivalmentioning

confidence: 99%

“…One of the main indications for combined liver and kidney transplantation (CLKT) in children is primary hyperoxaluria type 1 (PH1) (1,2). Although CLKT still is a challenging procedure, results in children are encouraging as shown by single-center studies and registry data from the United Network of Organ Sharing (UNOS) database, the Scientific Registry of Transplant Recipients (SRTR), the ESPN/ERA-EDTA-registry, and the OxalEurope registry (3)(4)(5)(6)(7)(8)(9). However, long-term outcome data are scarce and often analyses are not detailed enough to guide individual treatment in this rare procedure.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Long-term outcome after combined or sequential liver and kidney transplantation in children with infantile and juvenile primary hyperoxaluria type 1

et al. 2023

Self Cite

View full text Add to dashboard Cite

IntroductionCombined or sequential liver and kidney transplantation (CLKT/SLKT) restores kidney function and corrects the underlying metabolic defect in children with end-stage kidney disease in primary hyperoxaluria type 1 (PH1). However, data on long-term outcome, especially in children with infantile PH1, are rare.MethodsAll pediatric PH1-patients who underwent CLKT/SLKT at our center were analyzed retrospectively.ResultsEighteen patients (infantile PH1 n = 10, juvenile PH1 n = 8) underwent transplantation (CLKT n = 17, SLKT n = 1) at a median age of 5.4 years (1.5–11.8). Patient survival was 94% after a median follow-up of 9.2 years (6.4–11.0). Liver and kidney survival-rates after 1, 10, and 15 years were 90%, 85%, 85%, and 90%, 75%, 75%, respectively. Age at transplantation was significantly lower in infantile than juvenile PH1 (1.6 years (1.4–2.4) vs. 12.8 years (8.4–14.1), P = 0.003). Median follow-up was 11.0 years (6.8–11.6) in patients with infantile PH1 vs. 6.9 years (5.7–9.9) in juvenile PH1 (P = 0.15). At latest follow-up kidney and/or liver graft loss and/or death showed a tendency to a higher rate in patients with infantile vs. juvenile PH1 (3/10 vs. 1/8, P = 0.59).DiscussionIn conclusion, the overall patient survival and long-term transplant outcome of patients after CLKT/SLKT for PH1 is encouraging. However, results in infantile PH1 tended to be less optimal than in patients with juvenile PH1.

show abstract

Genetic assessment in primary hyperoxaluria: why it matters

Mandrile

Beck²,

Acquaviva³

et al. 2022

Pediatr Nephrol

Self Cite

View full text Add to dashboard Cite

Accurate diagnosis of primary hyperoxaluria (PH) has important therapeutic consequences. Since biochemical assessment can be unreliable, genetic testing is a crucial diagnostic tool for patients with PH to define the disease type. Patients with PH type 1 (PH1) have a worse prognosis than those with other PH types, despite the same extent of oxalate excretion. The relation between genotype and clinical phenotype in PH1 is extremely heterogeneous with respect to age of first symptoms and development of kidney failure. Some mutations are significantly linked to pyridoxine-sensitivity in PH1, such as homozygosity for p.G170R and p.F152I combined with a common polymorphism. Although patients with these mutations display on average better outcomes, they may also present with CKD stage 5 in infancy. In vitro studies suggest pyridoxine-sensitivity for some other mutations, but confirmatory clinical data are lacking (p.G47R, p.G161R, p.I56N/major allele) or scarce (p.I244T). These studies also suggest that other vitamin B6 derivatives than pyridoxine may be more effective and should be a focus for clinical testing. PH patients displaying the same mutation, even within one family, may have completely different clinical outcomes. This discordance may be caused by environmental or genetic factors that are unrelated to the effect of the causative mutation(s). No relation between genotype and clinical or biochemical phenotypes have been found so far in PH types 2 and 3. This manuscript reviews the current knowledge on the genetic background of the three types of primary hyperoxaluria and its impact on clinical management, including prenatal diagnosis.

show abstract

Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry

Cited by 14 publications

References 27 publications

Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope

Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope

Long-term outcome after combined or sequential liver and kidney transplantation in children with infantile and juvenile primary hyperoxaluria type 1

Genetic assessment in primary hyperoxaluria: why it matters

Contact Info

Product

Resources

About