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Common mutation underlying primary hyperoxaluria type1 in three Indian children

R Chanchlani1, A Sinha, A Gulati

  • 1Department of Pediatrics, Division of Nephrology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.

Indian Journal of Nephrology
|February 27, 2013
PubMed

Insights

Primary hyperoxaluria type 1 is a genetic kidney disease. A common AGXT gene mutation was found in three Indian children, highlighting the need for targeted genetic screening.

Area of Science:

  • Genetics
  • Nephrology
  • Biochemistry

Background:

  • Primary hyperoxaluria type 1 (PH1) is an inherited metabolic disorder.
  • It results from a deficiency in the AGXT gene, encoding alanine-glyoxylate aminotransferase.
  • PH1 leads to oxalate overproduction and kidney damage.

Observation:

  • Three Indian children with PH1 were studied.
  • All presented with chronic kidney disease (CKD).
  • A shared mutation in the AGXT gene was identified in all patients.

Findings:

  • The study identified a common AGXT gene mutation in three Indian children with PH1.
  • All affected children showed signs of CKD at diagnosis.
  • Progression to end-stage renal disease (ESRD) was observed in these patients.

Implications:

  • The findings suggest a specific AGXT mutation is prevalent in this Indian cohort.
  • Targeted genetic screening for this mutation could aid early PH1 diagnosis.
  • Early diagnosis and intervention may alter the course of kidney disease in PH1.

Keywords:
AGXT genechronic kidney diseasenephrocalcinosis

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