Subscribe to RSS
DOI: 10.1055/a-2270-5042
Primäre Hyperoxalurie
Aktuelle Standpunkte zur Pathogenese, Diagnostik und Therapie![](https://www.thieme-connect.de/media/10.1055-s-00055227/202406/lookinside/thumbnails/10-1055-a-2270-5042-1.jpg)
ZUSAMMENFASSUNG
Die primäre Hyperoxalurie umfasst eine Gruppe seltener autosomal-rezessiv vererbter Stoffwechselerkrankungen. Sie werden durch Mutationen in Enzymen verursacht, die an der endogenen Oxalatsynthese beteiligt sind. Es gibt 3 primäre Hyperoxalurien: Typ 1, 2 und 3, die jeweils einen anderen Defekt vorweisen, der in einer Oxalatüberproduktion resultiert. Dies führt zur Kristallisation von Kalziumoxalat (CaOx), entweder in Form von Nieren- und Harnleitersteinen, Nephrokalzinose oder als systemische Oxalose. Aufgrund der Heterogenität der Symptome und der großen Altersspanne ist die Diagnose oft schwierig. Biochemische und genetische Untersuchungen sind erforderlich, um die Diagnose so früh wie möglich zu bestätigen. Dies ist essenziell, um eine angemessene Behandlung einzuleiten und die Prognose zu verbessern. Ziel dieser Übersicht ist es, einen Überblick über aktuelle Empfehlungen und Updates zur Behandlung der primären Hyperoxalurie zu geben.
Publication History
Article published online:
24 July 2024
© 2024. Thieme. All rights reserved.
Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany
-
Literatur
- 1 Ermer T, Nazzal L, Tio MC. et al Oxalate homeostasis. Nat Rev Nephrol 2023; 19: 123-138 DOI: 10.1038/s41581-022-00643-3.
- 2 Cochat P, Rumsby G. Primary Hyperoxaluria. N Engl J Med 2013; 369: 649-658 DOI: 10.1056/NEJMra1301564.
- 3 Bacchetta J, Wood KD. Primary hyperoxaluria type 1: time for prime time?. Clin Kidney J 2022; 15 (Suppl. 01) i1-i3 DOI: 10.1093/ckj/sfab233.
- 4 Sawyer K, Leahy S, Wood KD. Progress with RNA Interference for the Treatment of Primary Hyperoxaluria. BioDrugs 2022; 36: 437-441 DOI: 10.1007/s40259-022-00539-5.
- 5 Groothoff JW, Metry E, Deesker L. et al Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope. Nat Rev Nephrol 2023; 19: 194-211 DOI: 10.1038/s41581-022-00661-1.
- 6 Cochat P, Hulton SA, Acquaviva C. et al Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. Nephrol Dial Transplant 2012; 27: 1729-1736 DOI: 10.1093/ndt/gfs078.
- 7 Fargue S, Acquaviva Bourdain C. Primary hyperoxaluria type 1: pathophysiology and genetics. Clin Kidney J 2022; 15 (Suppl. 01) i4-i8 DOI: 10.1093/ckj/sfab217.
- 8 Hopp K, Cogal AG, Bergstralh EJ. et al Phenotype-Genotype correlations and estimated carrier frequencies of primary hyperoxaluria. J Am Soc Nephrol 2015; 26: 2559-2570 DOI: 10.1681/ASN.2014070698.
- 9 Singh P, Viehman JK, Mehta RA. et al Clinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2. Nephrol Dial Transplant 2022; 37: 869-875 DOI: 10.1093/ndt/gfab027.
- 10 Garrelfs SF, Rumsby G, Peters-Sengers H. et al Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up. Kidney Int 2019; 96: 1389-1399 DOI: 10.1016/j.kint.2019.08.018.
- 11 Birtel J, Diederen RM, Herrmann P. et al The retinal phenotype in primary hyperoxaluria type 2 and 3. Pediatr Nephrol 2023; 38: 1485-1490 DOI: 10.1007/s00467-022-05765-1.
- 12 Recker P, Beck BB, Sikora P. et al Chronic liver disease and hepatic calcium-oxalate deposition in patients with primary hyperoxaluria type I. Sci Rep 2022; 12: 16725 DOI: 10.1038/s41598-022-19584-9.
- 13 Deesker LJ, Garrelfs SF, Mandrile G. et al Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry. Kidney Int Rep 2022; 07: 1608-1618 DOI: 10.1016/j.ekir.2022.04.012.
- 14 Ermer T, Eckardt KU, Aronson PS. et al Oxalate, inflammasome, and progression of kidney disease. Curr Opin Nephrol Hypertens 2016; 25: 363-371 DOI: 10.1097/MNH.0000000000000229.
- 15 Hoppe B, Kemper MJ, Bökenkamp A. et al Plasma calcium oxalate supersaturation in children with primary hyperoxaluria and end-stage renal failure. Kidney Int 1999; 56: 268-274 DOI: 10.1046/j.1523-1755.1999.00546.x.
- 16 Milliner DS, McGregor TL, Thompson A. et al End points for clinical trials in primary hyperoxaluria. Clin J Am Soc Nephrol 2020; 15: 1056-1065 DOI: 10.2215/CJN.13821119.
- 17 Perinpam M, Enders FT, Mara KC. et al Plasma oxalate in relation to eGFR in patients with primary hyperoxaluria, enteric hyperoxaluria and urinary stone disease. Clin Biochem 2017; 50: 1014-1019 DOI: 10.1016/j.clinbiochem.2017.07.017.
- 18 Shee K, Stoller ML. Perspectives in primary hyperoxaluria — historical, current and future clinical interventions. Nat Rev Urol 2022; 19: 137-146 DOI: 10.1038/s41585-021-00543-4.
- 19 Dindo M, Conter C, Oppici E. et al Molecular basis of primary hyperoxaluria: clues to innovative treatments. Urolithiasis 2019; 47: 67-78 DOI: 10.1007/s00240-018-1089-z.
- 20 Hoppe B. An update on primary hyperoxaluria – historical, current and future clinical interventions. Nat Rev Nephrol 2012; 08: 467-475 DOI: 10.1038/nrneph.2012.113.
- 21 Cellini B, Oppici E, Paiardini A. et al Molecular insights into primary hyperoxaluria type 1 pathogenesis. Front Biosci (Landmark Ed) 2012; 17: 621-634 DOI: 10.2741/3948.
- 22 Fargue S, Milliner DS, Knight J. et al Hydroxyproline metabolism and oxalate synthesis in primary hyperoxaluria. J Am Soc Nephrol 2018; 29: 1615-1623 DOI: 10.1681/ASN.2017040390.
- 23 Hoppe B. The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type III. Nephrol Dial Transplant 2012; 27: 3024-3026 DOI: 10.1093/ndt/gfs308.
- 24 Mandrile G, Beck B, Acquaviva C. et al Genetic assessment in primary hyperoxaluria: why it matters. Pediatr Nephrol 2023; 38: 625-634 DOI: 10.1007/s00467-022-05613-2.
- 25 Metry EL, Garrelfs SF, Deesker LJ. et al Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium. Kidney Int Rep 2023; 08: 2029-2042 DOI: 10.1016/j.ekir.2023.07.025.
- 26 Pinto e Vairo F, Prochnow C, Kemppainen JL. et al Genomics Integration Into Nephrology Practice. Kidney Med 2021; 03: 785-798 DOI: 10.1016/j.xkme.2021.04.014.
- 27 Gefen AM, Sethna CB, Cil O. et al Genetic testing in children with nephrolithiasis and nephrocalcinosis. Pediatr Nephrol 2023; 38: 2615-2622 DOI: 10.1007/s00467-023-05879-0.
- 28 Cogal AG, Arroyo J, Shah RJ. et al Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease. Kidney Int Rep 2021; 06: 2862-2884 DOI: 10.1016/j.ekir.2021.08.033.
- 29 Dejban P, Lieske JC. New therapeutics for primary hyperoxaluria type 1. Curr Opin Nephrol Hypertens 2022; 31: 344-350 DOI: 10.1097/MNH.0000000000000790.
- 30 Scott LJ, Keam SJ. Lumasiran: First Approval. Drugs 2021; 81: 277-282 DOI: 10.1007/s40265-020-01463-0.
- 31 Syed YY. Nedosiran: First Approval. Drugs 2023; 83: 1729-1733 DOI: 10.1007/s40265-023-01976-4.
- 32 Méaux MN, Sellier-Leclerc AL, Acquaviva-Bourdain C. et al The effect of lumasiran therapy for primary hyperoxaluria type 1 in small infants. Pediatr Nephrol 2022; 37: 907-911 DOI: 10.1007/s00467-021-05393-1.
- 33 Biebuyck N, Destombes C, Prakash R. et al Is withdrawal of nocturnal hyperhydration possible in children with primary hyperoxaluria treated with RNAi?. J Nephrol 2023; 36: 1473-1476 DOI: 10.1007/s40620-023-01611-1.
- 34 Porowski T, Kirejczyk JK, Mrozek P. et al Upper metastable limit osmolality of urine as a predictor of kidney stone formation in children. Urolithiasis 2019; 47: 155-163 DOI: 10.1007/s00240-018-1041-2.
- 35 Biebuyck N, Destombes C, Prakash R. et al Is withdrawal of nocturnal hyperhydration possible in children with primary hyperoxaluria treated with RNAi?. J Nephrol 2023; 36: 1473-1476 DOI: 10.1007/s40620-023-01611-1.
- 36 Fargue S, Harambat J, Gagnadoux MF. et al Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1. Kidney Int 2009; 76: 767-773 DOI: 10.1038/ki.2009.237.
- 37 Hoyer-Kuhn H, Kohbrok S, Volland R. et al Vitamin B6 in primary hyperoxaluria I: First prospective trial after 40 years of practice. Clin J Am Soc Nephrol 2014; 09: 468-477 DOI: 10.2215/CJN.06820613.
- 38 Singh P, Chebib FT, Cogal AG. et al Pyridoxine Responsiveness in a Type 1 Primary Hyperoxaluria Patient With a Rare (Atypical) AGXT Gene Mutation. Kidney Int Rep 2020; 05: 955-958 DOI: 10.1016/j.ekir.2020.04.004.
- 39 Crivelli JJ, Mitchell T, Knight J. et al Contribution of dietary oxalate and oxalate precursors to urinary oxalate excretion. Nutrients 2020; 13: 62 DOI: 10.3390/nu13010062.
- 40 Metry EL, Garrelfs SF, Peters-Sengers H. et al Long-Term Transplantation Outcomes in Patients With Primary Hyperoxaluria Type 1 Included in the European Hyperoxaluria Consortium (OxalEurope) Registry. Kidney Int Rep 2021; 07: 210-220 DOI: 10.1016/j.ekir.2021.11.006.
- 41 Lorenz EC, Lieske JC, Seide BM. et al Sustained pyridoxine response in primary hyperoxaluria type 1 recipients of kidney alone transplant. Am J Transplant 2014; 14: 1433-1438 DOI: 10.1111/ajt.12706.
- 42 Devresse A, Cochat P, Godefroid N. et al Transplantation for Primary Hyperoxaluria Type 1: Designing New Strategies in the Era of Promising Therapeutic Perspectives. Kidney Int Rep 2020; 05: 2136-2145 DOI: 10.1016/j.ekir.2020.09.022.
- 43 Metry EL, Deesker LJ, Garrelfs SF. et al Successful kidney-alone transplantation in a patient with PH1 on combination RNA-interference therapy. Kidney Int 2023; 104: 203-204 DOI: 10.1016/J.KINT.2023.04.009.
- 44 Breeggemann MC, Gluck SL, Stoller ML. et al A Case Report of Kidney-Only Transplantation in Primary Hyperoxaluria Type 1: A Novel Approach with the Use of Nedosiran. Case Rep Nephrol Dial 2023; 13: 63-69 DOI: 10.1159/000531053.