The prevalence of gastroesophageal reflux in children with tracheomalacia and laryngomalacia.

OBJECTIVE: We conducted a retrospective study to determine the relationship between gastroesophageal reflux (GER) and large airways malacia in infancy. METHODS: One hundred sixteen children referred for chronic respiratory problems who were between the ages of 3 and 28 months were investigated. All of them underwent flexible bronchoscopy and chest radiography. Eighteen children had laryngomalacia, 13 had tracheomalacia, and 23 had combined laryngotracheomalacia. During bronchoscopy, BAL was performed. An analysis of macrophages in the BAL fluid for lipid content was performed. Fifty-four children with laryngomalacia and tracheomalacia constituted the study group, and 62 children were in the control group. Reflux studies were obtained for 40 children from the study group and 41 from the control group. RESULTS: In the study group, 28 children (70%) had GER documented by reflux studies compared with 16 children (39%) in the control group (p < 0.01). In the control group, GER was found mainly among those with recurrent bilateral pneumonia. The lipid-laden macrophage score was correlated with the documented GER. CONCLUSION: GER is prevalent among infants with large airways malacia, and treatment of this group with antireflux therapy should be considered.

Infantile variant of Bartter syndrome and sensorineural deafness: a new autosomal recessive disorder.

The infantile variant of Bartter syndrome (IBS) is usually associated with maternal polyhydramnios, premature birth, postnatal polyuria and hypokalemic hypochloremic metabolic alkalosis and a typical appearance. IBS is thought to be an autosomal recessive trait. Several congenital tubular defects are associated with sensorineural deafness (SND). However, an association between the IBS and SND has not been reported so far. Here we describe 5 children of an extended consanguineous Bedouin family with IBS and SND. In 3 of the cases, the typical electrolyte imbalance and facial appearance were detected neonatally. SND was detected as early as age 1 month, suggesting either coincidental homozygotization of 2 recessive genes or a pleiotropic effect of one autosomal recessive gene. This association suggests that evaluation of SND is warranted in every case of IBS.

Prenatal diagnosis of Bartter syndrome.

Bartter syndrome, an autosomal recessive disorder of hyperaldosteronism and increased plasma renin, was suspected in an at-risk pregnancy due to the early occurrence of polyhydramnios. Further establishment of the diagnosis was accomplished by demonstrating increased levels of aldosterone in amniotic fluid and fetal cord blood. Electrolyte levels did not differ significantly from reported controls. It is thus suggested that polyhydramnios is the result of increased fetal urine output in Bartter syndrome and that amniotic fluid aldosterone is a reliable marker for the prenatal diagnosis of this condition.