New aspects of infantile oxalosis

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Infantile oxalosis, the most severe manifestation of primary hyperoxaluria type I (PH I), typically presents with delayed diagnosis, renal failure, and early mortality.
• Historically, diagnosis is often made after 4 months of age, with most infants succumbing within the first year of life.

Observation:

• This report details two infants diagnosed with PH I within weeks of birth, prior to significant renal impairment.
• Case 1 presented with elevated urinary oxalate and glycolate at 7 days, while Case 2 showed renal echogenicity at 3 weeks, leading to early PH I diagnosis.
• Prenatal diagnosis attempts in Case 1 revealed normal amniotic fluid oxalate and glycolate, suggesting placental transfer.

Findings:

• Early diagnosis and intervention in PH I are crucial for preserving renal function.
• Despite recurrent stone formation, Case 2 maintained normal renal function with pyridoxine treatment.
• The alanine: glyoxylate aminotransferase deficiency explains pyridoxine responsiveness in some PH I patients.

Implications:

• Prompt diagnosis of infantile oxalosis in newborns is vital for improved patient outcomes.
• The heterogeneity in PH I onset, severity, and treatment response suggests underlying biochemical and genetic variations.
• Further research into the genetic and biochemical basis of PH I is warranted to optimize therapeutic strategies.