Sub‐lethal hydrops as a manifestation of dehydrated hereditary stomatocytosis in two consecutive pregnancies

Abstract

Dehydrated hereditary stomatocytosis (DHS) is a rare congenital hemolytic anemia mapping to 16q23-q24. We showed recently that it is part of a pleiotropic syndrome likely to display pseudohyperkalemia and/or different forms of fetal and placental fluid collections. Here, we report a woman with DHS. She had two consecutive pregnancies associated with severe fetal hydrops. Hydrops would probably have been lethal in the absence of appropriate removal of ascites and excess amniotic fluid. In utero exchange transfusion, performed once, was useless, because anemia was not pronounced enough to be the cause of the hydrops. In both newborns, ascites resolved within a week following birth and never recurred. The association of hydrops and hemolytic anemia suggests the possibility of DHS. Symptomatic treatment of the hydrops assists survival until spontaneous resorption occurs.

Hereditary Xerocytosis due to Mutations inPIEZO1Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families

“…Interestingly, patient AII.1 also displayed a decrease in EImax, as found in the case reported by Grootenboer-Mignot et al [27]. In our patient the decrease in EImax is in line with the SDS-PAGE finding of a moderate spectrin deficiency.…”

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1

“…10,15 Similar massive but transient perinatal fluid effusions have been observed by others. 9,11,21,22 Following our initial studies, the patients were followed up locally.…”

“…The pre-and/or perinatal edema is of chylous type and may lead to life-threatening hydrops fetalis requiring therapeutic drainage. [9][10][11] Remarkably, the edema recede spontaneously before birth or within several months postnatally, and do not reappear. In contrast, edema may also be restricted to prenatal, clinically silent ascites detectable only by ultrasound.…”

Dehydrated hereditary stomatocytosis with transient perinatal ascites

“…5 In others, fetal oedema can be severe (potentially lethal if effective treatment is not given. 6 Antenatal drainage of the ascites may be necessary to improve lung growth. Chylous ascites can be seen after oral feeding.…”