ea0036P2 | (1) | BSPED2014
Gurudutt Divya
, McCabe Helen
, O'Brien Christopher
, Matthews Debbie
Salt-losing conditions can be challenging to manage well in infancy and early childhood. We describe a child with both salt-wasting 21-hydroxylase deficiency (SW21OHD) and cystic fibrosis (CF).A male infant, JW, birth weight 3.5 kg, presented with a salt-wasting crisis on day 9 of life with hyponatraemia, hyperkalaemia, and weight loss of 415 g. Serum 17-hydroxyprogesterone (17OHP) was >1000 nmol/l and a diagnosis of SW21OHD was made. Neonatal screen...