TY - CHAP M1 - Book, Section TI - Hereditary Xerocytosis A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - Hereditary xerocytosis is characterized by red cell membrane abnormality with increased permeability to cations and a greater efflux of potassium than of sodium. It is a rare, autosomal dominant congenital hemolytic anemia characterized by macrocytic stomatocytosis, and decreased red cell osmotic fragility due to a defect in cation permeability. Consequently, these red cells lose potassium in excess of sodium gained, with a decrease in total cation content. Osmotically resistant xerocytes result. Clinically, the patient may present with episodes of fatigue, jaundice, pallor, and darkened urine, especially during intense physical activity. At the other end of the spectrum from xerocytosis is hereditary stomatocytosis (or hydrocytosis), in which the red cells are overhydrated and sodium loaded. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/10/07 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164072876 ER -