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[Oliguria and acute renal dysfunction in a six-month-old infant]
Ya-Jie Cui1, Chun-Lan Song, Yi-Bing Cheng
1Department of ICU, Zhengzhou Children's Hospital, Zhengzhou 450003, China. chengyibing002@163.com.
Summary
Primary hyperoxaluria type 1 (PH1) is a rare genetic disorder. Early diagnosis through AGXT gene analysis is crucial for infants presenting with renal dysfunction and a family history of kidney failure.
Area of Science:
- Pediatric Nephrology
- Medical Genetics
- Biochemistry
Background:
- Primary hyperoxaluria type 1 (PH1) is an inherited metabolic disorder.
- It leads to excessive oxalate production and deposition in the kidneys.
- Early diagnosis and intervention are critical for managing kidney function.
Observation:
- A 6-month-old infant girl presented with oliguria and acute renal dysfunction.
- Laboratory results indicated severe metabolic acidosis, elevated blood urea nitrogen, and creatinine.
- The infant remained anuric despite continuous renal replacement therapy (CRRT).
- A family history revealed a sibling who died from acute renal failure at 6 months of age.
Findings:
- Genomic sequencing identified an AGXT gene mutation, confirming the diagnosis of PH1.
- Parents were identified as heterozygous carriers of the AGXT mutation.
- The clinical presentation and family history were highly suggestive of PH1.
Implications:
- PH1 should be strongly considered in pediatric cases with unexplained renal dysfunction, recurrent kidney stones, or a family history of these conditions.
- AGXT gene analysis is a definitive diagnostic tool for PH1.
- Prompt diagnosis and management strategies are essential to improve outcomes for affected children.
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