Gastroesophageal Reflux Disease (GERD)


Background
Physiology
Genetics
Clinical Manifestations
Dx
Treatment
Complications


Summary

Gastroesophageal reflux (GER) is a normal physiologic process involving the retrograde movement of gastric contents into the esophagus, often presenting as regurgitation or vomiting. In infants, children, and adults, most GER episodes are brief (<3 minutes), occur postprandially, and cause minimal or no symptoms. GER becomes gastroesophageal reflux disease (GERD) when these episodes lead to bothersome symptoms or complications, making GERD the most common esophageal disorder in children.

The pathophysiology of pediatric GER primarily involves transient lower esophageal sphincter relaxations (TLESRs), which account for up to 90% of reflux episodes. These relaxations are vagally mediated, unrelated to swallowing, and occur frequently after meals, especially with gastric distension. LES pressures typically range from 10–30 mm Hg and are not consistently low in GERD patients. Delayed gastric emptying is not a major contributor, and nocturnal reflux is uncommon in healthy children.

GER in infancy typically manifests as effortless regurgitation, peaking between 4–6 months of age. About 70–80% of infants experience daily regurgitation in the first 3–6 months, with fewer than 20% still affected by 12–15 months. GERD onset after age 2 is less likely to resolve spontaneously.

Differential diagnoses include infectious, eosinophilic, and chemical esophagitis; peptic ulcer disease; H. pylori gastritis; motility disorders like achalasia and gastroparesis; and other causes of vomiting such as urinary tract infections, increased intracranial pressure, food allergies, and metabolic disorders.

Diagnosis of GERD is often clinical, based on typical symptoms and the absence of alarm signs. Adolescents are more likely to report heartburn, while infants may present with nonspecific symptoms. GERD is not a common cause of irritability or unexplained crying in otherwise healthy infants, and most apparent life-threatening events (ALTEs) are unrelated. High-risk pediatric populations include those with neurologic impairment, obesity, repaired esophageal atresia, hiatal hernia, treated achalasia, cystic fibrosis, and post-lung transplantation.

Diagnostic testing is reserved for atypical or severe cases. Barium studies can exclude anatomic abnormalities but are not sensitive for GERD. Esophageal pH monitoring assesses acid exposure and treatment efficacy, while multichannel intraluminal impedance with pH (pH-MII) detects both acid and nonacid reflux and correlates symptoms with reflux events—especially useful in infants and children on acid suppression or tube feeds. Endoscopy with biopsy can confirm erosive esophagitis and rule out other causes, though mucosal changes are often nonspecific. Manometry helps diagnose achalasia or rumination. Nuclear scintigraphy and ultrasound are not recommended for GERD diagnosis.

Treatment begins with lifestyle modifications. In infants, thickened feeds may reduce visible regurgitation, and a 2–4-week trial of extensively hydrolyzed formula may help if symptoms persist. Prone and left-sided positioning can reduce acid exposure but prone sleeping increases SIDS risk. In older children, avoiding large meals, late-night eating, and managing obesity are key strategies. Elevating the head of the bed or sleeping on the left side may also help.

Pharmacologic therapy includes H2 receptor antagonists (H2RAs) for rapid relief, though tolerance may develop. Proton pump inhibitors (PPIs) are more effective for erosive esophagitis and GERD symptoms, typically used for 8–12 weeks. However, PPIs are not recommended for treating infant irritability or crying due to lack of evidence and potential risks, including increased infections, bone fractures, and nutrient deficiencies. Prokinetic agents are not routinely recommended due to insufficient evidence. Buffering agents and alginates may offer short-term relief but are not suitable for long-term use.

Surgical intervention, such as fundoplication, is reserved for severe, refractory GERD or when medical therapy fails. Indications include recurrent bleeding, aspiration, or neurologic impairment. Risks include gas-bloat syndrome, dysphagia, and need for reoperation.

Barrett esophagus, a complication of chronic GERD, involves replacement of squamous epithelium with metaplastic columnar epithelium and increases cancer risk. Though rare in children, it can occur in those with severe GERD. Surveillance guidelines are extrapolated from adult protocols, recommending periodic endoscopy based on dysplasia severity. Management includes long-term PPI therapy or antireflux surgery.




References:

https://naspghan.org/professional-resources/medical-professional-resources/reflux-gerd/

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