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

Tong Ni1, Zhenzhen Sun2, Fei Zhao3

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

CEN Case Reports
|October 4, 2022
PubMed

Insights

Infantile primary hyperoxaluria type 1 (PH1) is a severe kidney disease in infants. Early diagnosis and combined liver-kidney transplantation can lead to successful outcomes in PH1 patients.

Area of Science:

  • Nephrology
  • Genetics
  • Pediatrics

Background:

  • Infantile primary hyperoxaluria type 1 (PH1) is a rare genetic disorder leading to rapid kidney failure and high mortality in infants.
  • Early diagnosis is crucial for managing PH1, but it can be challenging due to its rarity and non-specific symptoms.

Approach:

  • This study presents a case of a three-month-old Chinese infant diagnosed with PH1 via renal biopsy and genetic testing.
  • The patient had two heterozygous mutations in the alanine-glyoxylate and serine pyruvate aminotransferase (AGXT) gene, including a novel mutation.
  • Management involved extracorporeal membrane oxygenation and continuous renal replacement therapy for organ support, followed by combined liver-kidney transplantation.

Key Points:

  • The infant presented with end-stage kidney disease (ESKD) and multiple organ failures.
  • A novel mutation in the AGXT gene was identified.
  • Successful combined liver-kidney transplantation was performed after a four-month waiting period.
  • The patient showed significant improvement post-transplantation.

Conclusions:

  • This case underscores the importance of considering PH1 in infants with unexplained ESKD.
  • Early suspicion and diagnosis of PH1 are critical for timely intervention and improved patient outcomes.
  • Combined liver-kidney transplantation offers a viable treatment option for severe PH1 cases.

Keywords:
AGXT geneCombined liver and kidney transplantationEnd-stage kidney diseaseInfantPrimary hyperoxaluria type 1

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