Congenital chloridorrhea in Korean infants.
The present paper describes two Korean male infants, 1. 16 year old and newly born neonate from two families who were diagnosed and managed for one of very rare inborn errors of metabolism, congenital chloridorrhea (Darrow-Gamble syndrome). The diagnosis was suggested by one of the authors (HRM) from the unusual combination of metabolic alkalosis with severe gastrointestinal disorder presenting with chronic, profuse watery diarrhea in the newborn period in the first patient; and the maternal polyhydramnios, the appearance of dilated fetal bowel loops on prenatal ultrasonography and profuse watery diarrhea beginning at birth without passage of meconium in the second patient. The diagnosis was confirmed in both patients by examination of the stool chloride concentration which revealed extremely high exceeding the sum of sodium and potassium concentrations. Serum electrolytes and arterial blood gas analyses revealed hyponatremia, hypokalemia and hypochloremia with elevated bicarbonate. With replacement of fluid and electrolyte deficit and adequate dietary supplements of potassium and chloride, both patients remained well although the character of the stools waxed and waned. This is the first reported case of congenital chloridorrhea in korean population.
Lee
Y D
YD
Department of Pediatrics, College of Medicine, Seoul National University, Korea.
Lee
H J
HJ
Moon
H R
HR
D000293:Adolescent; D002712:Chlorides / Q000378:metabolism*; D003937:Diagnosis, Differential; D003967:Diarrhea / Q000151:congenital* / Q000175:diagnosis / Q000208:ethnology; D003968:Diarrhea, Infantile / Q000175:diagnosis* / Q000208:ethnology / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D007723:Korea; D008297:Male
D002712:Chlorides