ABSTRACT
Congenital chloridorrhea is a rare autosomal recessive disease and results from impairment of active transport of chloride in the ileum and colon. Absence of the Cl-/HCO3-, exchange pump causes polyhydramnios, distended bowel loop and absence of meconium before birth. Prenatal ultrasound examination shows a great number of circular anechoic area in the fetal abdomen, as well as polyhydramnios. Massive watery diarrhea is apparent from the first days of life. This fluid loss, with its attendant impairment of electrolyte homeostasis, is life threatening. Exact replacement of water, NaCl and KCl can prevent the growth and psychomotor retardation and the development of progressive renal damage. We experienced one case of congenital chloridorrhea and present it with brief review of literatures.
Subject(s)
Abdomen , Biological Transport, Active , Colon , Diarrhea , Homeostasis , Ileum , Meconium , Parturition , Polyhydramnios , Ultrasonography , WaterABSTRACT
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.
Subject(s)
Adolescent , Humans , Infant, Newborn , Male , Chlorides/metabolism , Diagnosis, Differential , Diarrhea/congenital , Diarrhea, Infantile/diagnosis , KoreaABSTRACT
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.