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Clinical analysis of 13 children with primary hyperoxaluria type 1

Jin-Ai Lin1, Xin Liao2, Wenlin Wu1

  • 1Department of Nephrology, Guangzhou Women and Children's Medical Center, Guangzhou, China.

Urolithiasis
|March 15, 2021
PubMed

Insights

Primary hyperoxaluria type 1 (PH1) in children is most common in infants, with a 100% mortality rate and high incidence of renal failure. Nephrocalcinosis is a key risk factor for renal insufficiency in PH1 patients.

Area of Science:

  • Pediatric Nephrology
  • Clinical Genetics
  • Medical Imaging

Background:

  • Primary hyperoxaluria type 1 (PH1) is a rare genetic disorder leading to excessive oxalate production and deposition in the kidneys.
  • Understanding the clinical and molecular characteristics of PH1 in pediatric populations is crucial for early diagnosis and improved outcomes.
  • Pediatric PH1 presents with significant morbidity and mortality, necessitating detailed analysis of risk factors and disease subtypes.

Purpose of the Study:

  • To analyze the clinical and molecular biological characteristics of pediatric primary hyperoxaluria type 1 (PH1).
  • To compare outcomes between infant and noninfant types of PH1.
  • To identify risk factors for renal insufficiency and mortality in pediatric PH1.

Main Methods:

  • Retrospective statistical analysis of 13 pediatric PH1 patients diagnosed between June 2016 and May 2019.
  • Patients were categorized into infant and noninfant groups based on clinical presentation.
  • Analysis included clinical data, radiological imaging (X-ray, CT, MRI) for nephrocalcinosis, and AGXT gene mutation screening.

Main Results:

  • Infant type PH1 was the most common (6/13 patients), with a 100% mortality rate compared to 14.3% in noninfant type (p=0.029).
  • Renal failure incidence was 67% in infant type versus 14.3% in noninfant type.
  • Nephrocalcinosis (NC) was detected in 76.92% of patients, primarily via imaging, and identified as an independent risk factor for renal insufficiency (OR 3.33).
  • Nine AGXT gene mutations were identified, including one novel mutation (c.190A>T); c.679_680del in exon 6 was the most frequent.

Conclusions:

  • Infant-onset PH1 has a poorer prognosis with higher rates of renal failure and mortality.
  • Nephrocalcinosis is a significant independent risk factor for renal failure in pediatric PH1.
  • Radiological imaging is recommended for detecting NC in patients with abnormal ultrasounds; AGXT gene analysis is vital for diagnosis and management.

Keywords:
AGXT geneChildrenNephrocalcinosisPrimary hyperoxaluria type I

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