We found that MAGED2 mutations caused X-linked polyhydramnios with prematurity and a severe but transient form of antenatal Bartter's syndrome. MAGE-D2 is essential for fetal renal salt reabsorption, amniotic fluid homeostasis, and the maintenance of pregnancy. (Funded by the University of Groningen and others.).
Acrodermatitis enteropathica (AE) was diagnosed in 2 siblings, boy and girl, at the age of 10 and 6 weeks. The family history is unremarkable except for consanguinity 5 generations previously. The clinical symptoms of the 2 patients conformed to the known features of AE, the gastrointestinal involvement loosing its significance with increasing age. In one patient in a stage of exacerbation the serum level of oleic acid (18:1) was lowered and of linoleic (18:2) acid slightly increased while that of arachidonic acid was decreased (Fig. 4). In both patients the serum zinc levels were significantly lowered. Under substitution with ZnSO4 the clinical condition improved and the serum zinc levels returned to normal. Histologically the small bowel mucosa was practically normal. Ultrastructural examination of jejunal biopsies revealed rather unspecific changes in the enterocytes in the form of numerous multivesicular bodies. The Paneth cells sometimes contained irregularly formed inhomogeneous structures within their cytoplasm. In addition the secretory granules varied in size and displayed a granular heteromorphic matrix. Frequently they were confluent and formed giant granules.
Hair zinc concentration was measured in centimeter sections of hair strands obtained from 17 mothers after delivery of newborn infants with spina bifida cystica. Thirty unselected healthy mothers and their normal newborn infants served as the controls. In the mothers of the diagnosis group, mean hair zinc concentration (216.2 microgram/g; SD = 43.2) was significntly higher than in the controls (181.6 microgram/g; SD = 31.4); it increased during pregnancy, whereas it decreased in the controls during the same time, and it was positively correlated to the hair zinc concentration of the newborn infants, while no such correlation could be detected in the controls. In the diagnosis group, mean birth weight (2808 g; SD = 382) and length (48.5 cm; SD = 2.3) of the term infants were significantly lower than in the control group (3310 g; SD = 382, and 51.2 cm; SD = 1.9, respectively). It is speculated that the differences in the zinc and growth parameters between the diagnosis and control group indicate an abnormality of zinc availability or metabolism in the mothers of infants with spina bifida.
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