Skip to main content

Advertisement

SpringerLink
Log in

A case report of invasive infantile primary hyperoxaluria type 1 and literature review

  • Case Report
  • Published:
CEN Case Reports Aims and scope Submit manuscript

Abstract

Infantile primary hyperoxaluria type 1 (PH1) is the most devastating primary hyperoxaluria (PH) subtype as it leads to early end-stage kidney disease (ESKD) associated with high mortality. We report a case of a three-month-old female Chinese infant who was diagnosed with PH1 by renal biopsy and genetic studies. She carried two heterozygous mutations in the alanine-glyoxylate and serine pyruvate aminotransferase (AGXT) gene, one of which has never been previously reported. The patient had multiple organ failures caused by kidney failure, which was improved by extracorporeal membrane oxygenation and continuous renal replacement therapy. However, her primary disease responded poorly to conservative treatment. Fortunately, after waiting for four months, the patient underwent a successful combined liver-kidney transplantation and has progressed well so far. This case highlights the importance of suspecting PH in infant patients with ESKD of uncertain etiology, as early initiation of therapy prevents poor outcomes.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

Similar content being viewed by others

References

  1. van Woerden CS, Groothoff JW, Wanders RJ, Davin JC, Wijburg FA. Primary hyperoxaluria type 1 in the Netherlands: Prevalence and outcome. Nephrol Dial Transplant. 2003;18:273–9.

    Article  PubMed  Google Scholar 

  2. Cochat P, Rumsby G. Primary hyperoxaluria. N Engl J Med. 2013;369:649–58.

    Article  CAS  PubMed  Google Scholar 

  3. Hopp K, Cogal AG, Bergstralh EJ, et al. Phenotype-Genotype correlations and estimated carrier frequencies of primary hyperoxaluria. J Am Soc Nephrol. 2015;26:2559–70.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Jellouli M, Ferjani M, Abidi K, et al. Primary hyperoxaluria in infants. Saudi J Kidney Dis Transpl. 2016;27:526–32.

    Article  PubMed  Google Scholar 

  5. 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;27:1729–36.

    Article  CAS  PubMed  Google Scholar 

  6. Cochat P, Deloraine A, Rotily M, Olive F, Liponski I, Deries N. Epidemiology of primary hyperoxaluria type 1. Societe de Nephrologie and the Societe de Nephrologie Pediatrique. Nephrol Dial Transplant. 1995;8:3–7.

    Article  Google Scholar 

  7. Harambat J, Fargue S, Acquaviva C, et al. Genotype-phenotype correlation in primary hyperoxaluria type 1: The p.Gly170Arg AGXT mutation is associated with a better outcome. Kidney Int. 2010;77:443–9.

    Article  CAS  PubMed  Google Scholar 

  8. Grenda R, Kalicinski P. Combined and sequential liver-kidney transplantation in children. Pediatr Nephrol. 2018;33:2227–37.

    Article  PubMed  PubMed Central  Google Scholar 

  9. Amoroso A, Pirulli D, Puzzer D, et al. Gene symbol: AGXT disease: primary hyperoxaluria type I. Hum Genet. 1999;104:441.

    Article  CAS  PubMed  Google Scholar 

  10. Monico CG, Rossetti S, Olson JB, Milliner DS. Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele. Kidney Int. 2005;67:1704–9.

    Article  CAS  PubMed  Google Scholar 

  11. Plumb TJ, Swee ML, Fillaus JA. Nocturnal home hemodialysis for a patient with type 1 hyperoxaluria. Am J Kidney Dis. 2013;62:1155–9.

    Article  PubMed  Google Scholar 

  12. Ranawaka R, Dayasiri K, Gamage M. Combined liver and kidney transplantation in children and long-term outcome. World J Transpl. 2020;10:283–90.

    Article  Google Scholar 

  13. Lee E, Ramos-Gonzalez G, Rodig N, Elisofon S, Vakili K, Kim HB. Bilateral native nephrectomy to reduce oxalate stores in children at the time of combined liver-kidney transplantation for primary hyperoxaluria type 1. Pediatr Nephrol. 2018;33:881–7.

    Article  PubMed  Google Scholar 

  14. Villani V, Gupta N, Elias N, et al. Bilateral native nephrectomy reduces systemic oxalate level after combined liver-kidney transplant: A case report. Pediatr Transplant. 2017. https://doi.org/10.1111/petr.12901.

    Article  PubMed  Google Scholar 

  15. Talati JJ, Hulton SA, Garrelfs SF, et al. Primary hyperoxaluria in populations of Pakistan origin: Results from a literature review and two major registries. Urolithiasis. 2018;46:187–95.

    Article  PubMed  Google Scholar 

  16. Khorsandi SE, Samyn M, Hassan A, et al. An institutional experience of pre-emptive liver transplantation for pediatric primary hyperoxaluria type 1. Pediatr Transplant. 2016;20:523–9.

    Article  PubMed  Google Scholar 

  17. Devresse A, Cochat P, Godefroid N, Kanaan N. Transplantation for primary hyperoxaluria type 1: Designing new strategies in the era of promising therapeutic perspectives. Kidney Int Rep. 2020;5:2136–45.

    Article  PubMed  PubMed Central  Google Scholar 

  18. Garrelfs SF, Frishberg Y, Hulton SA, et al. Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1. N Engl J Med. 2021;384:1216–26.

    Article  CAS  PubMed  Google Scholar 

  19. Sas DJ, Magen D, Hayes W, et al. Phase 3 trial of lumasiran for primary hyperoxaluria type 1: A new RNAi therapeutic in infants and young children. Genet Med. 2022;24:654–62.

    Article  CAS  PubMed  Google Scholar 

  20. Setten RL, Rossi JJ, Han SP. The current state and future directions of RNAi-based therapeutics. Nat Rev Drug Discov. 2019;18:421–46.

    Article  CAS  PubMed  Google Scholar 

  21. Metry EL, van Dijk L, Peters-Sengers H, et al. Transplantation outcomes in patients with primary hyperoxaluria: A systematic review. Pediatr Nephrol. 2021;36:2217–26.

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Nephrology, Children’s Hospital of Nanjing Medical University, Nanjing, China

    Tong Ni & Fei Zhao

  2. Nanjing Key Laboratory of Pediatrics, Children’s Hospital of Nanjing Medical University, Nanjing, China

    Zhenzhen Sun

Authors
  1. Tong Ni
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Zhenzhen Sun
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Fei Zhao
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Fei Zhao.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interests.

Informed consent

Written informed consent was taken from parents for publication.

Human and animal rights

This article does not describe any studies with human participants or animals performed by any of the authors.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Ni, T., Sun, Z. & Zhao, F. A case report of invasive infantile primary hyperoxaluria type 1 and literature review. CEN Case Rep 12, 159–163 (2023). https://doi.org/10.1007/s13730-022-00740-z

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s13730-022-00740-z

Keywords

Search

Navigation