A GENETIC SYNDROME ASSOCIATING DEHYDRATED HEREDITARY STOMATOCYTOSIS, PSEUDOHYPERKALEMIA AND PERINATAL EDEMA

Dehydrated hereditary stomatocytosis is a haemolytic anaemia with an u nderlying impairment of monovalent cation transport, It is sometimes a ssociated with pseudo-hyperkalaemia (e.g. an increase of kalaemia when blood is left at room temperature) or with perinatal ascites, We repo rt a case in which dehydrated hereditary stomatocytosis, pseudohyerkal aemia and perinatal oedema coexisted, and were transmitted en bloc in a dominant fashion. Transfusions did not cure the oedema, that spontan eously receded after a few months, We assume that the various manifest ations stemmed from one single altered locus, yet to be determined.