Hereditary dehydrated and overhydrated stomatocytosis: recent advances

Curr Opin Hematol. 1999 Mar;6(2):110-4. doi: 10.1097/00062752-199903000-00009.

Abstract

The hereditary stomatocytoses and allied disorders are genetic defects of the erythrocyte membrane that result in abnormal permeability to the univalent cations Na+ and K+. Although rare, these conditions reflect abnormalities in physiologic mechanisms that are of paramount interest. All cases (as defined here) show increased plasma membrane permeability to Na+ and K+ and, to a greater or lesser degree, stomatocytic morphology. Dehydrated hereditary stomatocytosis, the most common form of hereditary stomatocytosis, is more heterogeneous than previously thought and includes kindreds showing pseudohyperkalemia or perinatal edema, or both. The gene responsible for both dehydrated hereditary stomatocytosis and familial pseudohyperkalemia, a nonhemolytic variant that presents with high plasma K+ levels, has been mapped to 16q23-qter. The cause of overhydrated hereditary stomatocytosis remains elusive despite the manifest lack of the enigmatic protein stomatin in the erythrocyte membrane. In all cases where splenectomy has been performed, this procedure has conferred a marked risk for thrombosis in adult life. This finding stresses the importance of diagnostic distinction between these conditions and hereditary spherocytosis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Anemia, Hemolytic, Congenital / blood
  • Anemia, Hemolytic, Congenital / genetics*
  • Clinical Laboratory Techniques
  • Dehydration / blood
  • Dehydration / genetics*
  • Erythrocyte Membrane / metabolism*
  • Erythrocytes, Abnormal*
  • Humans
  • Hydrops Fetalis / blood
  • Hydrops Fetalis / genetics*
  • Infant, Newborn
  • Potassium / pharmacokinetics
  • Sodium / pharmacokinetics

Substances

  • Sodium
  • Potassium