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A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature.

Daniele ZamaGiulia GiuliettiEdoardo MuratoreImmacolata AndolfoRoberta RussoAchille IolasconAndrea Pession
Published in: Italian journal of pediatrics (2020)
This case report highlights the importance of a correct and exhaustive diagnostic-workup in patients with clinical suspicious for hemolytic anemia in order to make a differential diagnosis. This is relevant for the management of these patients because splenectomy is contraindicated in DHS due to high thrombotic risk.
Keyphrases
  • case report
  • end stage renal disease
  • chronic kidney disease
  • ejection fraction
  • newly diagnosed
  • peritoneal dialysis
  • ultrasound guided