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Published: 11 March 2023

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1

Cochat, Pierre. "Primary hyperoxaluria type 1." Kidney International 55, no. 6 (June 1999): 2533–47. http://dx.doi.org/10.1046/j.1523-1755.1999.00477.x.

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2

Ajzensztejn, M. J., N. J. Sebire, R. S. Trompeter, and S. D. Marks. "Primary hyperoxaluria type 1." Archives of Disease in Childhood 92, no. 3 (March 1, 2007): 197. http://dx.doi.org/10.1136/adc.2006.107334.

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3

Abukhatwah, Mohamed W., Samia H. Almalki, Mohammed S. Althobaiti, Abdulla O. Alharbi, Najla K. Almalki, and Naglaa M. Kamal. "Primary hyperoxaluria Type 1." Medicine 99, no. 25 (June 19, 2020): e20371. http://dx.doi.org/10.1097/md.0000000000020371.

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4

Kumar, Aman, Prateek Kinra, and A. W. Kashif. "Autopsy Findings in an Infant with Primary Hyperoxaluria (Type-1)." Annals of Pathology and Laboratory Medicine 7, no. 12 (December 30, 2020): C178–182. http://dx.doi.org/10.21276/apalm.2908.

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Histopathological findings in oxalosis patient are limited in the literature, although it has high mortality. Oxalosis, which is defined as deposition of calcium oxalate crystals in tissues, is the final stage of various hyperoxaluric syndromes. It is often missed and is rare. The diagnosis is often delayed, since it requires special laboratory tests for establishing the diagnosis. Kidneys, blood vessel walls, and bones are the major sites for crystal deposition. We present an infant autopsy case of primary hyperoxaluria, type 1. Diagnosis was established with genetic testing. On autopsy, calcium oxalate crystals which were refringent to polarized light were found in both kidneys.
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5

Cochat, P., A. Deloraine, M. Rotily, F. Olive, I. Liponski, and N. Deries. "Epidemiology of primary hyperoxaluria type 1." Nephrology Dialysis Transplantation 10, supp8 (January 1, 1995): 3–7. http://dx.doi.org/10.1093/ndt/10.supp8.3.

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6

Ichiyama, Arata, Toshiaki Oda, and Eiko Maeda-Nakai. "Primary Hyperoxaluria Type 1 in Japan." Cell Biochemistry and Biophysics 32, no. 1-3 (2000): 171–76. http://dx.doi.org/10.1385/cbb:32:1-3:171.

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7

Takayama, Tatsuya, Masao Nagata, Arata Ichiyama, and Seiichiro Ozono. "Primary Hyperoxaluria Type 1 in Japan." American Journal of Nephrology 25, no. 3 (2005): 297–302. http://dx.doi.org/10.1159/000086361.

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Cochat, Pierre, Aurélia Liutkus, Sonia Fargue, Odile Basmaison, Bruno Ranchin, and Marie-Odile Rolland. "Primary hyperoxaluria type 1: still challenging!" Pediatric Nephrology 21, no. 8 (August 2006): 1075–81. http://dx.doi.org/10.1007/s00467-006-0124-4.

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9

Frishberg, Yaacov, Sofia Feinstein, Choni Rinat, and Alfred Drukker. "Hypothyroidism in primary hyperoxaluria type 1." Journal of Pediatrics 136, no. 2 (February 2000): 255–57. http://dx.doi.org/10.1016/s0022-3476(00)70112-0.

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10

Frishberg, Yaacov, Georges Deschênes, Jaap W. Groothoff, Sally-Anne Hulton, Daniella Magen, Jérôme Harambat, William G. van’t Hoff, et al. "Phase 1/2 Study of Lumasiran for Treatment of Primary Hyperoxaluria Type 1." Clinical Journal of the American Society of Nephrology 16, no. 7 (May 13, 2021): 1025–36. http://dx.doi.org/10.2215/cjn.14730920.

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Background and objectivesIn the rare disease primary hyperoxaluria type 1, overproduction of oxalate by the liver causes kidney stones, nephrocalcinosis, kidney failure, and systemic oxalosis. Lumasiran, an RNA interference therapeutic, suppresses glycolate oxidase, reducing hepatic oxalate production. The objective of this first-in-human, randomized, placebo-controlled trial was to evaluate the safety, pharmacokinetic, and pharmacodynamic profiles of lumasiran in healthy participants and patients with primary hyperoxaluria type 1.Design, setting, participants, & measurementsThis phase 1/2 study was conducted in two parts. In part A, healthy adults randomized 3:1 received a single subcutaneous dose of lumasiran or placebo in ascending dose groups (0.3–6 mg/kg). In part B, patients with primary hyperoxaluria type 1 randomized 3:1 received up to three doses of lumasiran or placebo in cohorts of 1 or 3 mg/kg monthly or 3 mg/kg quarterly. Patients initially assigned to placebo crossed over to lumasiran on day 85. The primary outcome was incidence of adverse events. Secondary outcomes included pharmacokinetic and pharmacodynamic parameters, including measures of oxalate in patients with primary hyperoxaluria type 1. Data were analyzed using descriptive statistics.ResultsThirty-two healthy participants and 20 adult and pediatric patients with primary hyperoxaluria type 1 were enrolled. Lumasiran had an acceptable safety profile, with no serious adverse events or study discontinuations attributed to treatment. In part A, increases in mean plasma glycolate concentration, a measure of target engagement, were observed in healthy participants. In part B, patients with primary hyperoxaluria type 1 had a mean maximal reduction from baseline of 75% across dosing cohorts in 24-hour urinary oxalate excretion. All patients achieved urinary oxalate levels ≤1.5 times the upper limit of normal.ConclusionsLumasiran had an acceptable safety profile and reduced urinary oxalate excretion in all patients with primary hyperoxaluria type 1 to near-normal levels.Clinical Trial registry name and registration number:Study of Lumasiran in Healthy Adults and Patients with Primary Hyperoxaluria Type 1, NCT02706886
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11

RINAT, CHONI, RONALD J. A. WANDERS, ALFRED DRUKKER, DAVID HALLE, and YAACOV FRISHBERG. "Primary Hyperoxaluria Type I." Journal of the American Society of Nephrology 10, no. 11 (November 1999): 2352–58. http://dx.doi.org/10.1681/asn.v10112352.

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Abstract. Primary hyperoxaluria type 1 is an autosomal recessive inherited metabolic disease in which excessive oxalates are formed by the liver and excreted by the kidneys, causing a wide spectrum of phenotypes ranging from renal failure in infancy to mere renal stones in late adulthood. Mutations in the AGXT gene, encoding the liver-specific enzyme alanine:glyoxylate aminotransferase, are responsible for the disease. Seven mutations were detected in eight families in Israel. Four of these mutations are novel and three occur in children living in single-clan villages. The mutations are scattered along various exons (1, 4, 5, 7, 9, 10), and on different alleles comprissing at least five different haplotypes. All but one of the mutations are in a homozygous pattern, reflecting the high rate of consanguinity in our patient population. Two affected brothers are homozygous for two different mutations expressed on the same allele. The patients comprise a distinct ethnic group (Israeli Arabs) residing in a confined geographic area. These results, which are supported by previous data, suggest for the first time that the phenomenon of multiple mutations in a relatively closed isolate is common and almost exclusive to the Israeli-Arab population. Potential mechanisms including selective advantage to heterozygotes, digenic inheritance, and the recent emergence of multiple mutations are discussed.
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12

Jemshad, A., CA Mansoor, DS Milliner, and N. K. N. Bhushan. "Bilateral nephrocalcinosis in primary hyperoxaluria type 1." Indian Journal of Nephrology 26, no. 5 (2016): 383. http://dx.doi.org/10.4103/0971-4065.189317.

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13

Shah, Chintan G., Alpana J. Ohri, and Amish H. Udani. "Primary Hyperoxaluria Type 1: A great masquerader." Wadia Journal of Women and Child Health 1 (July 1, 2022): 13–17. http://dx.doi.org/10.25259/wjwch_2022_05.

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Primary hyperoxaluria (PH) Types I, II, and III is an autosomal recessive inherited disorder of defect in glyoxylate metabolism due to specific hepatic enzyme deficiencies causing renal damage due to deposition of oxalate crystals that induce renal epithelial cell injury, and inflammation resulting in reduced renal oxalate elimination leading to extra renal deposition of calcium oxalate crystals. PH is under diagnosed because of phenotypic heterogeneity masquerading as infantile nephrocalcinosis (NC) with or without renal failure or renal calculus disease in adults. We present three children with genetically proven PH1 seen over last 2 years along with a brief review of the literature. In this series all cases were female. Two girls had infantile onset of symptoms and one presented in childhood. Renal failure in all with varying sonography features including small size kidneys, multiple renal calculi, bulky kidneys with loss of corticomedullary differentiation were seen. Extrarenal affection was seen in one child. Renal replacement therapy was provided in all. Awareness of PH and early diagnosis by measurement of plasma and urinary oxalate and molecular characterization helps in prompt aggressive therapy, preventing extrarenal manifestations and plan long term management.
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14

Nugmanova, A. M., S. A. Dikanbaeva, G. N. Chingaeva, Z. E. Zhumagulova, Eh S. Eshankulov, and B. M. Auyezkhanov. "CLINICAL CASE OF PRIMARY HYPEROXALURIA TYPE 1." Pediatria. Journal named after G.N. Speransky 98, no. 2 (April 10, 2019): 268–71. http://dx.doi.org/10.24110/0031-403x-2019-98-2-268-271.

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15

Chand, Alejandro Quiroga, and Frederick J. Kaskel. "Timely diagnosis of primary hyperoxaluria type 1." Nature Reviews Nephrology 5, no. 12 (December 2009): 670–71. http://dx.doi.org/10.1038/nrneph.2009.186.

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16

Danpure, C. J., P. R. Jennings, R. J. Penketh, P. J. Wise, and C. H. Rodeck. "PRENATAL EXCLUSION OF PRIMARY HYPEROXALURIA TYPE 1." Lancet 331, no. 8581 (February 1988): 367. http://dx.doi.org/10.1016/s0140-6736(88)91171-3.

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17

Cochat, Pierre, Jean Louis Faure, Priscille Divry, ChristopherJ Danpure, Bruno Descos, Catherine Wright, Philippe Takvorian, and Daniel Floret. "LIVER TRANSPLANTATION IN PRIMARY HYPEROXALURIA TYPE 1." Lancet 333, no. 8647 (May 1989): 1142–43. http://dx.doi.org/10.1016/s0140-6736(89)92423-9.

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18

Danpure, Christopher J. "Molecular Aetiology of Primary Hyperoxaluria Type 1." Nephron Experimental Nephrology 98, no. 2 (November 17, 2004): e39-e44. http://dx.doi.org/10.1159/000080254.

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19

MUNIR, WUQAAS M., MITHLESH C. SHARMA, TINA LI, FELIPE DEALBA, and DEBRA A. GOLDSTEIN. "RETINAL OXALOSIS IN PRIMARY HYPEROXALURIA TYPE 1." Retina 24, no. 6 (December 2004): 974–76. http://dx.doi.org/10.1097/00006982-200412000-00024.

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20

Small, Kent W. "Enzyme Deficiency for Type 1 Primary Hyperoxaluria." Archives of Ophthalmology 110, no. 1 (January 1, 1992): 13. http://dx.doi.org/10.1001/archopht.1992.01080130015005.

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21

Eam, Euhun, Joshua Chang, Katreya Lovrenert, Michelle Baum, Friedhelm Hildebrandt, Donald Bodner, Fredrick Schumacher, and Chen-han Wu. "GENETIC PREVALENCE OF PRIMARY HYPEROXALURIA TYPE 1." Molecular Genetics and Metabolism 138, no. 3 (March 2023): 107408. http://dx.doi.org/10.1016/j.ymgme.2023.107408.

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22

Imtinene, Ben Mrad, Kamoun Sofien, Ben Mrad Melek, Zairi Ihsen, Oumaya Zeineb, Ben Fatma Lilia, Mami Ikram, Kaaroud Hayet, Khadija Mzoughi, and Kraiem Sondos. "Case Report: Syncopal atrioventricular block complicating primary hyperoxaluria type 1." F1000Research 10 (September 10, 2021): 914. http://dx.doi.org/10.12688/f1000research.54890.1.

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Primary hyperoxaluria (PH) type 1 is a rare hereditary metabolic disorder resulting in accumulation of calcium oxalate in several organs, including the heart. Cardiac oxalosis in PH is poorly described in the medical literature. We report the case of a 42-year-old woman diagnosed with primary hyperoxaluria type 1 and end-stage renal failure who presented with syncope related to a paroxysmal third-degree atrioventricular block. The patient benefited from the implantation of a dual chamber pacemaker with a good outcome. Conduction blocks in case of primary hyperoxaluria type 1 are exceptional; in fact, less than five reports have previously been published in the medical literature. With this case, we would like to highlight the need for regular and careful monitoring of cardiac status in patients treated for primary oxalosis, especially when renal function is impaired.
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Harambat, Jérôme, Sonia Fargue, Justine Bacchetta, Cécile Acquaviva, and Pierre Cochat. "Primary Hyperoxaluria." International Journal of Nephrology 2011 (2011): 1–11. http://dx.doi.org/10.4061/2011/864580.

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Primary hyperoxalurias (PH) are inborn errors in the metabolism of glyoxylate and oxalate. PH type 1, the most common form, is an autosomal recessive disorder caused by a deficiency of the liver-specific enzyme alanine, glyoxylate aminotransferase (AGT) resulting in overproduction and excessive urinary excretion of oxalate. Recurrent urolithiasis and nephrocalcinosis are the hallmarks of the disease. As glomerular filtration rate decreases due to progressive renal damage, oxalate accumulates leading to systemic oxalosis. Diagnosis is often delayed and is based on clinical and sonographic findings, urinary oxalate assessment, DNA analysis, and, if necessary, direct AGT activity measurement in liver biopsy tissue. Early initiation of conservative treatment, including high fluid intake, inhibitors of calcium oxalate crystallization, and pyridoxine in responsive cases, can help to maintain renal function in compliant subjects. In end-stage renal disease patients, the best outcomes have been achieved with combined liver-kidney transplantation which corrects the enzyme defect.
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24

Rumsby, G., T. Weir, and C. T. Samuell. "A Semiautomated Alanine: Glyoxylate Aminotransferase Assay for the Tissue Diagnosis of Primary Hyperoxaluria Type 1." Annals of Clinical Biochemistry: International Journal of Laboratory Medicine 34, no. 4 (July 1997): 400–404. http://dx.doi.org/10.1177/000456329703400411.

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We have developed a sensitive assay for the measurement of alanine:glyoxylate aminotransferase (EC 2.6.1.44) activity in human liver. The assay is partly automated, and takes into consideration the sensitivity of the reaction to pH and to glyoxylate concentration. It is less subject to interference from other enzymes utilizing glyoxylate and to chemical interference from glyoxylate itself and can therefore be used without correction for cross-over by glutamate:glyoxylate aminotransferase (EC 2.6.1.4). The assay allows clear discrimination between normal and affected livers and is sufficiently sensitive to measure enzyme activity in fetal liver samples. Enzyme activity ranged from 17·9 to 38·5 μmol/h/mg protein in control livers ( n = 9) and 0·8 to 9·5 μmol/h/mg protein in 30 of 39 hyperoxaluric patients studied. Normal alanine: glyoxylate aminotransferase activity (from 22·8 to 45·5 μmol/h/mg protein) allowed exclusion of primary hyperoxaluria type 1 in the other nine hyperoxaluric patients.
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25

Edwards, P., and G. A. Rose. "Metabolism of Pyridoxine in Mild Metabolic Hyperoxaluria and Primary Hyperoxaluria (Type 1)." Urologia Internationalis 47, no. 3 (1991): 113–17. http://dx.doi.org/10.1159/000282203.

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Waddell, Benjamin, and Daniel McKenney. "Type 1 primary hyperoxaluria in a male infant." Kidney Research and Clinical Practice 36, no. 4 (December 31, 2017): 393. http://dx.doi.org/10.23876/j.krcp.2017.36.4.393.

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Cochat, Pierre, Sonia Fargue, and Jérôme Harambat. "Primary hyperoxaluria type 1: strategy for organ transplantation." Current Opinion in Organ Transplantation 15, no. 5 (October 2010): 590–93. http://dx.doi.org/10.1097/mot.0b013e32833e35f5.

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28

Allen, A. R., E. M. Thompson, G. Williams, R. W. E. Watts, and C. D. Pusey. "Selective renal transplantation in primary hyperoxaluria type 1." American Journal of Kidney Diseases 27, no. 6 (June 1996): 891–95. http://dx.doi.org/10.1016/s0272-6386(96)90529-6.

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Cochat, Pierre, and Jaap Groothoff. "Primary hyperoxaluria type 1: practical and ethical issues." Pediatric Nephrology 28, no. 12 (March 14, 2013): 2273–81. http://dx.doi.org/10.1007/s00467-013-2444-5.

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30

Danpure, C. J., P. R. Jennings, P. Fryer, P. E. Purdue, and J. Allsop. "Primary hyperoxaluria type 1: Genotypic and phenotypic heterogeneity." Journal of Inherited Metabolic Disease 17, no. 4 (1994): 487–99. http://dx.doi.org/10.1007/bf00711363.

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31

Sakamoto, Taiji. "Enzyme Deficiency for Type 1 Primary Hyperoxaluria-Reply." Archives of Ophthalmology 110, no. 1 (January 1, 1992): 13. http://dx.doi.org/10.1001/archopht.1992.01080130015006.

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32

Birtel, Johannes, Philipp Herrmann, Sander F. Garrelfs, Simon Dulz, Yevgeniya Atiskova, Roselie M. Diederen, Martin Gliem, et al. "The Ocular Phenotype in Primary Hyperoxaluria Type 1." American Journal of Ophthalmology 206 (October 2019): 184–91. http://dx.doi.org/10.1016/j.ajo.2019.04.036.

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33

Sethi, Sidharth Kumar, Hans R. Waterham, Sonika Sharma, Alok Sharma, Pankaj Hari, and Arvind Bagga. "Primary hyperoxaluria type 1 with a novel mutation." Indian Journal of Pediatrics 76, no. 2 (September 22, 2008): 215–17. http://dx.doi.org/10.1007/s12098-008-0187-2.

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34

Leumann, Ernst, and Bernd Hoppe. "Primary hyperoxaluria type 1: is genotyping clinically helpful?" Pediatric Nephrology 20, no. 5 (March 17, 2005): 555–57. http://dx.doi.org/10.1007/s00467-005-1813-0.

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35

El Hage, Samer, Ismat Ghanem, André Baradhi, Chebel Mourani, Samir Mallat, Fernand Dagher, and Khalil Kharrat. "Skeletal features of primary hyperoxaluria type 1, revisited." Journal of Children's Orthopaedics 2, no. 3 (June 2008): 205–10. http://dx.doi.org/10.1007/s11832-008-0082-4.

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36

BAIKO, S. V. "Primary hyperoxaluria: diagnostics, treatment, outcomes." Practical medicine 18, no. 6 (2020): 49–57. http://dx.doi.org/10.32000/2072-1757-2020-6-49-57.

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Primary hyperoxaluria (PH) is a rare autosomal recessive disease caused by defects in liver glyoxylate metabolism and leading to overproduction of oxalates. Of the three types of PH, type I is the most common and severe form of the disease, which is caused by deficiency or loss of the liver-specific, vitamin B6-dependent, peroxisomal enzyme alanine-glyoxylateaminotransferase (AGT). In all types of PH, urinary excretion of oxalate is strongly elevated (> 1 mmol /1,73 m2/24 h), which results in recurrent urolithiasis and/or progressive nephrocalcinosis and subsequently, with a decrease in glomerular filtration rate (GFR), to the deposition of oxalates in the tissues of the body and the development of systemic oxalosis. PH type I is diagnosed late, in > 30% of patients already at the terminal stage of renal disease (ESRD). Every fourth patient with PH type II achieves ESRD, but cases of ESRD in type III are extremely rare. The diagnosis of PH is based on clinical and imaging (ultrasound, X-ray, CT scan) findings, urine oxalate assessment, genetic analysis. Early initiation of conservative treatment (high fluid intake, sodium citrate, etc.) is aimed at preserving renal function. Pyridoxine treatment can be effective in about 30% of patients with PH type I. Time on dialysis in anticipation of transplantation should be short to avoid overt systemic oxalosis. Transplantation methods depend on the type of PH and on the degree of GFR reduction, but combined liver and kidney transplantation is the method of choice in patients with primary hyperoxaluria type I. High index of clinical suspicion of PH must be in patients with nephrocalcinosis and/or recurrent urolithiasis, especially if urinary stones are predominantly whewellite (calcium oxalate monohydrate) in order to start early conservative treatment and preserve kidney function.
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37

Milliner, Dawn S., Tracy L. McGregor, Aliza Thompson, Bastian Dehmel, John Knight, Ralf Rosskamp, Melanie Blank, et al. "End Points for Clinical Trials in Primary Hyperoxaluria." Clinical Journal of the American Society of Nephrology 15, no. 7 (March 12, 2020): 1056–65. http://dx.doi.org/10.2215/cjn.13821119.

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Patients with primary hyperoxaluria experience kidney stones from a young age and can develop progressive oxalate nephropathy. Progression to kidney failure often develops over a number of years, and is associated with systemic oxalosis, intensive dialysis, and often combined kidney and liver transplantation. There are no therapies approved by the Food and Drug Association. Thus, the Kidney Health Initiative, in partnership with the Oxalosis and Hyperoxaluria Foundation, initiated a project to identify end points for clinical trials. A workgroup of physicians, scientists, patients with primary hyperoxaluria, industry, and United States regulators critically examined the published literature for clinical outcomes and potential surrogate end points that could be used to evaluate new treatments. Kidney stones, change in eGFR, urine oxalate, and plasma oxalate were the strongest candidate end points. Kidney stones affect how patients with primary hyperoxaluria feel and function, but standards for measurement and monitoring are lacking. Primary hyperoxaluria registry data suggest that eGFR decline in most patients is gradual, but can be unpredictable. Epidemiologic data show a strong relationship between urine oxalate and long-term kidney function loss. Urine oxalate is reasonably likely to predict clinical benefit, due to its causal role in stone formation and kidney damage in CKD stages 1–3a, and plasma oxalate is likely associated with risk of systemic oxalosis in CKD 3b–5. Change in slope of eGFR could be considered the equivalent of a clinically meaningful end point in support of traditional approval. A substantial change in urine oxalate as a surrogate end point could support traditional approval in patients with primary hyperoxaluria type 1 and CKD stages 1–3a. A substantial change in markedly elevated plasma oxalate could support accelerated approval in patients with primary hyperoxaluria and CKD stages 3b–5. Primary hyperoxaluria type 1 accounts for the preponderance of available data, thus heavily influences the conclusions. Addressing gaps in data will further facilitate testing of promising new treatments, accelerating improved outcomes for patients with primary hyperoxaluria.
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Garrelfs, Sander F., Yaacov Frishberg, Sally A. Hulton, Michael J. Koren, William D. O’Riordan, Pierre Cochat, Georges Deschênes, et al. "Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1." New England Journal of Medicine 384, no. 13 (April 1, 2021): 1216–26. http://dx.doi.org/10.1056/nejmoa2021712.

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39

Diallo, Ousséini, Françoise Janssens, Michelle Hall, and E. Fred Avni. "Type 1 Primary Hyperoxaluria in Pediatric Patients:Renal Sonographic Patterns." American Journal of Roentgenology 183, no. 6 (December 2004): 1767–70. http://dx.doi.org/10.2214/ajr.183.6.01831767.

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40

Garrelfs, Sander F., Dewi van Harskamp, Hessel Peters-Sengers, Chris H. P. van den Akker, Ronald J. A. Wanders, Frits A. Wijburg, Johannes B. van Goudoever, Jaap W. Groothoff, Henk Schierbeek, and Michiel J. S. Oosterveld. "Endogenous Oxalate Production in Primary Hyperoxaluria Type 1 Patients." Journal of the American Society of Nephrology 32, no. 12 (October 22, 2021): 3175–86. http://dx.doi.org/10.1681/asn.2021060729.

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BackgroundPrimary hyperoxaluria type 1 (PH1) is an inborn error of glyoxylate metabolism, characterized by increased endogenous oxalate production. The metabolic pathways underlying oxalate synthesis have not been fully elucidated, and upcoming therapies require more reliable outcome parameters than the currently used plasma oxalate levels and urinary oxalate excretion rates. We therefore developed a stable isotope infusion protocol to assess endogenous oxalate synthesis rate and the contribution of glycolate to both oxalate and glycine synthesis in vivo.MethodsEight healthy volunteers and eight patients with PH1 (stratified by pyridoxine responsiveness) underwent a combined primed continuous infusion of intravenous [1-13C]glycolate, [U-13C2]oxalate, and, in a subgroup, [D5]glycine. Isotopic enrichment of 13C-labeled oxalate and glycolate were measured using a new gas chromatography–tandem mass spectrometry (GC-MS/MS) method. Stable isotope dilution and incorporation calculations quantified rates of appearance and synthetic rates, respectively.ResultsTotal daily oxalate rates of appearance (mean [SD]) were 2.71 (0.54), 1.46 (0.23), and 0.79 (0.15) mmol/d in patients who were pyridoxine unresponsive, patients who were pyridoxine responsive, and controls, respectively (P=0.002). Mean (SD) contribution of glycolate to oxalate production was 47.3% (12.8) in patients and 1.3% (0.7) in controls. Using the incorporation of [1-13C]glycolate tracer in glycine revealed significant conversion of glycolate into glycine in pyridoxine responsive, but not in patients with PH1 who were pyridoxine unresponsive.ConclusionsThis stable isotope infusion protocol could evaluate efficacy of new therapies, investigate pyridoxine responsiveness, and serve as a tool to further explore glyoxylate metabolism in humans.
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41

Jamieson, Neville V., and Katharine A. Jamieson. "Primary Hyperoxaluria Type 1: Gene Therapy by Liver Transplantation." Transplantation 87, no. 9 (May 2009): 1273–74. http://dx.doi.org/10.1097/tp.0b013e3181a17157.

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42

Toussaint, Charles, Anne Vienne, Luc De Pauw, Michel Gelin, Françoise Janssen, Michele Hall, Thierry Schurmans, and Jean-Lambert Pasteels. "COMBINED LIVER-KIDNEY TRANSPLANTATION IN PRIMARY HYPEROXALURIA TYPE 1." Transplantation 59, no. 12 (June 1995): 1700–1704. http://dx.doi.org/10.1097/00007890-199506270-00010.

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43

Poloni, José Antonio T., Clotilde D. Garcia, Liane N. Rotta, and Mark A. Perazella. "Calcium oxalate crystalluria points to primary hyperoxaluria type 1." Kidney International 89, no. 1 (January 2016): 250. http://dx.doi.org/10.1016/j.kint.2015.11.001.

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44

Danpure, Christopher J. "Molecular and Clinical Heterogeneity in Primary Hyperoxaluria Type 1." American Journal of Kidney Diseases 17, no. 4 (April 1991): 366–69. http://dx.doi.org/10.1016/s0272-6386(12)80624-x.

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45

Burns, Nadja, Brian Castillo, Aditya Gupta, Brandy McKelvy, and Sozos Papasozomenos. "Primary Hyperoxaluria Type 1 With Systemic Calcium Oxalate Deposition." American Journal of Clinical Pathology 138, suppl 1 (July 1, 2012): A002. http://dx.doi.org/10.1093/ajcp/138.suppl1.002.

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46

Kemper, M. J., M. Burdelski, and D. E. Müller‐Wiefel. "Combined liver‐kidney transplantation for primary hyperoxaluria type 1." Nephrology Dialysis Transplantation 16, no. 10 (October 1, 2001): 2113–14. http://dx.doi.org/10.1093/ndt/16.10.2113.

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47

Cochat, P., J. M. Gaulier, P. C. Koch Nogueira, J. Feber, N. V. Jamieson, M. O. Rolland, P. Divry, D. Bozon, and L. Dubourg. "Combined liver-kidney transplantation in primary hyperoxaluria type 1." European Journal of Pediatrics 158, S2 (January 1, 1999): S075—S080. http://dx.doi.org/10.1007/pl00014327.

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48

Toussaint, C., L. De Pauw, C. Tielemans, and D. Abramowicz. "Hypercalcaemia complicating systemic oxalosis in primary hyperoxaluria type 1." Nephrology Dialysis Transplantation 10, supp8 (January 1, 1995): 17–21. http://dx.doi.org/10.1093/ndt/10.supp8.17.

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49

Brooks, Ellen R., Bernd Hoppe, Dawn S. Milliner, Eduardo Salido, John Rim, Leah M. Krevitt, Julie B. Olson, Heather E. Price, Gulsah Vural, and Craig B. Langman. "Assessment of Urine Proteomics in Type 1 Primary Hyperoxaluria." American Journal of Nephrology 43, no. 4 (2016): 293–303. http://dx.doi.org/10.1159/000445448.

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Abstract:
Background: Primary hyperoxaluria type 1 (PH1) and idiopathic hypercalciuria (IHC) are stone-forming diseases that may result in the formation of calcium (Ca) oxalate (Ox) stones, nephrocalcinosis, and progressive chronic kidney disease (CKD). Poorer clinical outcome in PH1 is segregated by the highest urine (Ur)-Ox (UrOx), while IHC outcomes are not predictable by UrCa. We hypothesized that differences would be found in selected Ur-protein (PRO) patterns in PH1 and IHC, compared to healthy intra-familial sibling controls (C) of PH1 patients. We also hypothesized that the PRO patterns associated with higher UrOx levels would reflect injury, inflammation, biomineralization, and abnormal tissue repair processes in PH1. Methods: Twenty four-hour Ur samples were obtained from 3 cohorts: PH1 (n = 47); IHC (n = 35) and C (n = 13) and were analyzed using targeted platform-based multi-analyte profile immunoassays and for UrOx and UrCa by biochemical measurements. Results: Known stone matrix constituents, osteopontin, calbindin, and vitronectin were lowest in PH1 (C > IHC > PH1; p < 0.05). Ur-interleukin-10; chromogranin A; epidermal growth factor (EGF); insulin-like growth factor-1 (IGF-1), and macrophage inflammatory PRO-1α (MIP-1α) were higher in PH1 > C (p = 0.03 to p < 0.05). Fetuin A; IGF-1, MIP-1α, and vascular cell adhesion molecule-1 were highest in PH1 > IHC (p < 0.001 to p = 0.005). Conclusion: PH1 Ur-PROs reflected overt inflammation, chemotaxis, oxidative stress, growth factors (including EGF), and pro-angiogenic and calcification regulation/inhibition compared to the C and IHC cohorts. Many of the up- and downregulated PH1-PROs found in this study are also found in CKD, acute kidney injury, stone formers, and/or stone matrices. Further data analyses may provide evidence for PH1 unique PROs or demonstrate a poorer clinical outcome.
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Blaschke, Sabine, Clemens Grupp, Jens Haase, Thomas Kleinoeder, Christian Hallermann, Ilka Troche, Hermann-J. Gröne, and Gerhard A. Müller. "A case of late-onset primary hyperoxaluria type 1." American Journal of Kidney Diseases 39, no. 2 (February 2002): e11.1. http://dx.doi.org/10.1053/ajkd.2002.30586.

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