Recurrent calcium oxalate calculi: the culprit in disguise.
Calcium oxalate
Malabsorption
Sucrase deficiency
Journal
Pediatric nephrology (Berlin, Germany)
ISSN: 1432-198X
Titre abrégé: Pediatr Nephrol
Pays: Germany
ID NLM: 8708728
Informations de publication
Date de publication:
16 Oct 2024
16 Oct 2024
Historique:
received:
26
08
2024
accepted:
02
10
2024
revised:
02
10
2024
medline:
16
10
2024
pubmed:
16
10
2024
entrez:
16
10
2024
Statut:
aheadofprint
Résumé
Congenital sucrase isomaltase deficiency (CSID) is a rare autosomal recessive monogenic disorder of small intestinal malabsorption and manifests typically in early childhood with chronic osmotic diarrhoea. Though there have been case reports in adults presenting with hypercalcemia and renal calculi in CSID, this is quite rare in children. We hereby report a 6-year-old boy who presented with recurrent episodes of calcium oxalate calculi without any gastrointestinal symptoms and was confirmed as having sucrase isomaltase deficiency by genetic analysis.
Identifiants
pubmed: 39412673
doi: 10.1007/s00467-024-06555-7
pii: 10.1007/s00467-024-06555-7
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024. The Author(s), under exclusive licence to International Pediatric Nephrology Association.
Références
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