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- Title
Hypercalcemia in an Infant with Primary Hyperoxaluria Type 2: A Novel Association.
- Authors
Singhania, Pankaj; Ghosh, Arunava; Bhattacharjee, Rana; Chowdhury, Subhankar; Datta, Dipanjana
- 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.
- Subjects
HYPERCALCEMIA; GENETIC mutation; GENETIC testing; INBORN errors of carbohydrate metabolism; KIDNEY calcification; URINARY calculi; SYMPTOMS
- Publication
Indian Journal of Nephrology, 2023, Vol 33, Issue 5, p387
- ISSN
0971-4065
- Publication type
Article
- DOI
10.4103/ijn.ijn_140_22