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Hypercalcemia in an Infant with Primary Hyperoxaluria Type 2: A Novel Association
Pankaj Singhania1, Arunava Ghosh1, Rana Bhattacharjee1
1Department of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research/SSKM Hospital, Kolkata, West Bengal, India.
Insights
This study reports a rare case of hypercalcemia in an infant, linked to primary hyperoxaluria type 2, a metabolic disorder. This association between nephrocalcinosis, nephrolithiasis, and primary hyperoxaluria type 2 is unprecedented.
Area of Science:
- Pediatric Nephrology
- Medical Genetics
- Metabolic Disorders
Background:
- Hypercalcemia in infants has diverse causes and clinical presentations.
- Nephrocalcinosis and nephrolithiasis are significant renal complications in infants.
- Primary hyperoxaluria (PH) is a rare inherited metabolic disorder affecting the liver.
Observation:
- A 9-month-old female infant presented with urinary tract infection and systemic illness.
- Investigations revealed bilateral medullary nephrocalcinosis and hypercalcemia.
- Genetic testing confirmed Primary Hyperoxaluria type 2 (PH-2).
Findings:
- This case presents the first genetically confirmed association between Primary Hyperoxaluria type 2 and hypercalcemia.
- The infant exhibited nephrocalcinosis and nephrolithiasis secondary to PH-2.
- Genetic analysis identified pathogenic mutations in the infant and carrier status in the mother.
Implications:
- This finding expands the known clinical spectrum of Primary Hyperoxaluria type 2.
- Highlights the importance of considering rare metabolic disorders in infants with unexplained hypercalcemia and renal abnormalities.
- Suggests a potential link between PH-2 and calcium dysregulation, warranting further investigation.
Abstract:
Hypercalcemia in infants presents with a variety of clinical features and the etiology of hypercalcemia varies with age. Here we present a case of hypercalcemia in an infant presenting with nephrocalcinosis and nephrolithiasis. Our investigations led us to a diagnosis of primary hyperoxaluria (PH) type 2, a rare metabolic disorder, along with hypercalcemia, a never before reported association. A 9-month-old female presented with urinary tract infection and systemic features requiring hospitalization and parenteral antibiotics. Investigations revealed bilateral medullary nephrocalcinosis. Genetic testing revealed a diagnosis of Primary hyperoxaluria type 2 with two possible mutations. Sanger sequencing of the parents identified the pathogenic mutation in the mother. This is the first report of a genetically proven case of primary hyperoxaluria type 2 associated with hypercalcemia.
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