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Hypercalcemia in an Infant with Primary Hyperoxaluria Type 2: A Novel Association.
Singhania, Pankaj; Ghosh, Arunava; Bhattacharjee, Rana; Chowdhury, Subhankar; Datta, Dipanjana.
Afiliación
  • Singhania P; Department of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research/SSKM Hospital, Kolkata, West Bengal, India.
  • Ghosh A; Department of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research/SSKM Hospital, Kolkata, West Bengal, India.
  • Bhattacharjee R; Department of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research/SSKM Hospital, Kolkata, West Bengal, India.
  • Chowdhury S; Department of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research/SSKM Hospital, Kolkata, West Bengal, India.
  • Datta D; Institute of Child Health, Kolkata, West Bengal, India.
Indian J Nephrol ; 33(5): 387-391, 2023.
Article en En | MEDLINE | ID: mdl-37881736
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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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Indian J Nephrol Año: 2023 Tipo del documento: Article País de afiliación: India Pais de publicación: India
Texto completo
Añadir a Mi BVS
Imprimir
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Indian J Nephrol Año: 2023 Tipo del documento: Article País de afiliación: India Pais de publicación: India