Gastro-oesophageal reflux is very common in babies and young children. Regurgitation of a small quantity of milk after a feed without any other symptoms (possessing) is harmless in young infants and doesn’t need any investigations or treatment.
Reflux may be more severe and associated with other symptoms.
Gastro-oesophageal reflux is very common in babies and young children. Regurgitation of a small quantity of milk after a feed without any other symptoms (possetting) is harmless in young infants and doesn’t need any investigations or treatment.
Reflux may be more severe and associated with other symptoms. This condition is usually diagnosed without needing any tests but some babies with more troublesome symptoms may be referred for further investigations. There are various treatments available including feed thickeners, anti-regurgitant milk, Gaviscon® and various medications. However, for the majority of cases, gastro-oesophageal reflux is a self-limiting condition and, with time, improves without any complications.
Gastro-oesophageal reflux is extremely common. Regurgitation of a small quantity of milk after a feed without any other symptoms (possetting) is harmless in young infants. Around one in two babies in the UK have regurgitation. This occurs when some of their feed effortlessly returns into their mouth from their stomachs. This is most commonly caused by reflux.
It occurs because the muscle at the lower end of the food pipe (oesophagus) is too relaxed. So, some of the contents of the stomach pass up into the oesophagus, leading to regurgitation or being sick (vomiting). As the contents of the stomach are acidic this can irritate the lining of the oesophagus. When gastro-oesophageal reflux is associated with troublesome symptoms (such as poor weight gain, unexplained crying or distressed behavior) it is known as gastro-oesophageal reflux disease (GORD).
Gastro-oesophageal reflux is more common in babies who are born prematurely and also in those who have a very low birth weight. It is also more common in babies or children who have some impairment of their muscles and nerves (for example, those with cerebral palsy) or those with cow’s milk allergy.
Reflux occurs both in breastfed and in bottle-fed babies.
Many babies and children have some gastro-oesophageal reflux which leads to being sick (vomiting) or regurgitation of some of their feeds. This is not always associated with other symptoms.
Other symptoms of gastro-oesophageal reflux can include symptoms that are similar to baby colic. These may be uncontrolled crying, drawing the legs up towards the tummy and pain in the tummy after feeding. Some older babies may refuse feeds, as they associate feeds with pain on swallowing. More uncommonly some babies or children have some blood in their stools (feces) or their vomit.
Older children with reflux may complain of heartburn and a foul-tasting, watery fluid intermittently coming into their mouth.
Some babies with GORD have poor weight gain and can be more unsettled than normal. Occasionally, babies may wheeze as a result of more severe reflux.
How is the diagnosis of reflux made?
For most babies and children, further tests are not needed as your doctor will be able to make the diagnosis by talking to you and examining your baby or child. You may be asked to keep a diary of the amount of fluid and food your baby or child is taking and also how often they are bringing up food.
Click on the underlined RED Wording
Your doctor may refer your baby or child for further tests if they are having more severe symptoms. These may include:
pH monitoring of the food pipe (oesophagus). This involves inserting a very small probe down into the oesophagus to measure the amount of acid in the oesophagus.
Endoscopy. This involves a small tube with a camera at the end being inserted into the oesophagus to look for any inflammation of the lining of the oesophagus and/or the stomach.
Barium swallow. This involves having a drink of barium followed by an X-ray. This test is not often performed nowadays.
For more info click here
http://patient.info/health/childhood-gastro-oesophageal-reflux-leaflet
Professional reference: PatientPlus articles are written by UK doctors and are based on research evidence, UK, and European Guidelines. They are designed for health professionals to use, so you may find the language more technical than the Parents leaflet above.
Gastro-oesophageal reflux (GOR) is the non-forceful regurgitation of milk and other gastric contents into the esophagus. Asymptomatic effortless regurgitation of a small quantity of milk after a feed (possessing) is quite normal in young infants and doesn’t need any investigations or treatment.
GOR should be distinguished from vomiting which is an active process, requiring the forceful contraction of the diaphragm and abdominal muscles. It occurs where there is the incompetence of the sphincter of the gastro-oesophageal junction or where raised intragastric or intra-abdominal pressures to exist sufficient to overcome this mechanism.
Physiological, asymptomatic reflux occurs in all adults and children but is infrequent (<5% of any 24-hour period, mostly occurring postprandially). Gastro-oesophageal reflux disease (GORD) occurs when reflux is persistent, more frequent, and gives rise to troublesome symptoms or complications.
http://patient.info/doctor/childhood-gastro-oesophageal-reflux-pro
Esophageal manometry, also known as an esophageal motility study, is a test used to diagnose problems involving the movement and function of your esophagus (the tube that runs from your throat to your stomach). The procedure involves the insertion of a pressure-sensitive tube into your nose that is then fed into your throat, esophagus, and, stomach. Esophageal manometry can help determine whether your problem is associated with the esophagus itself and, if so, in which part and to what degree. Esophageal manometry is used when you have chronic reflux or swallowing problems that cannot be explained.
In some cases, GERD may be a result of another issue, such as a hiatal hernia or a tumor. The chief symptom of GERD is heartburn, a burning sensation located beneath the breastbone, often radiating up toward the throat.
Not everyone with GERD has heartburn. Regurgitation is a more severe form in which stomach acid reaches the back of the throat, producing a sour, acidic taste. These symptoms may sometimes be accompanied by nausea. Heartburn and regurgitation are usually much worse right after a meal and are made more severe while lying flat or bending over. Sometimes, GERD can cause complications that can lead to some very serious problems. Other symptoms of GERD include a persistent sore throat, hoarseness, chronic cough, wheezing, bad breath, chest pain, and feeling like there is a lump in your throat.2 These symptoms are more common when you don’t have heartburn. GERD may also cause stomach acid to stimulate nerves in your esophagus or cause damage to its lining that can result in discomfort.
In addition to esophageal concerns, GERD can lead to other complications involving the head, neck, and airways such as asthma, chronic laryngitis, narrowing of the airways around your larynx (voice box), dental cavities, and chronic sinus infections. The most frequent complications of GERD include Barrett’s esophagus (a precursor to esophageal cancer), erosive esophagitis, and esophageal stricture.
Esophageal manometry can help determine whether your problem is associated with the esophagus itself and, if so, in which part and to what degree. Specifically, it is used to detect esophageal motor dysfunction.
The esophagus contains two such sphincters:2
Lower esophageal sphincter (LES), located at the entrance of the stomach, prevents food and acid from backing up (refluxing) into the esophagus.
Upper esophageal sphincter (UES), positioned beneath the throat (pharynx), prevents air from getting into the stomach or its contents from getting into the lungs.
However, esophageal manometry is usually not the first test used to diagnose these conditions. Rather, it would be performed after X-rays and other tests have ruled out more likely causes, including esophageal obstruction, esophageal stricture, hiatal hernia, or heart disease. Esophageal manometry may also be used to help diagnose the following – Achalasia, the dysfunction of the LES in which food is unable to pass into the stomach – Eosinophilic esophagitis, an allergic cause of dysphagia – Jackhammer esophagus (hypercontractile peristalsis), characterized by esophageal spasms in an abnormal sequence – Nutcracker esophagus (hypertensive peristalsis), characterized by rapid esophageal contractions in a normal sequence – Scleroderma, a rare disorder that causes the chronic tightening of tissues, including the throat.
Esophageal Manometry Demonstration by a Doctor on himself
This Young lady talking about this
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2015 Young lady talks about her Esophageal pH test
Alternative Tests
While a conventional esophageal manometry is the best method for assessing motility dysfunction, there are other tests that may be more appropriate for other conditions. Barium swallow studies may be used to evaluate the function of the esophageal sphincter by recording the movement of the liquid with a live X-ray video camera. High-resolution manometry, which is more costly, works similarly to conventional manometry but uses more sensors to create a three-dimensional map to pinpoint asymmetrical sphincter problems.
You take your child to his dental appointment, expecting smiles all around and a clean bill of health. Instead, you discover that your child’s teeth are in a perilous state of decay, and your child will need thousands of dollars of dental work. You’re a good mum; you brush his teeth and feed him healthy foods. How could this happen?
The answer may be acid reflux. A study from the University of California at San Francisco found that children with reflux are six times more likely to suffer damage to the enamel than healthy children.
www.ucsf.edu/news/2009/05/4230/children-acid-reflux-more-likely-have-poor-dental-health
As children grow, their reflux medication may stop working. Many children go off their medication around age one, just when teeth are popping up. But some older children still have problems with reflux. A child may think that reflux is normal, and forget to mention it to you. Fortunately, there are steps you can take to minimize the consequences of acid reflux.
During acid reflux episodes, small amounts of stomach acid travel into your mouth and can damage the enamel (outer layer of the tooth) as well as the dentin (layer on teeth under the enamel and on the root surface of teeth). In addition, the stomach acid often irritates the lining of the oesophagus.
See the Dentist Early and Often
If your child has a history of reflux, make sure he sees the dentist as soon as he has teeth. A good pediatric dentist can spot reflux damage in its early stages and help you develop a treatment plan. Some children with severe acid reflux may need to see the dentist every three months instead of every six months. When you are dealing with acid damage, prevention is much more economical than waiting for a crisis.
oraNurse
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Gastroesophageal reflux (GER, aka acid reflux or acid regurgitation) occurs when the opening to the stomach (lower oesophagal sphincter, LES) doesn’t close properly, causing food and digestive acid to rise up the oesophagus. This stomach acid irritates and inflames the oesophagus causing heartburn pain (esophagitis).
Persistent acid reflux is considered Gastroesophageal Reflux Disease (GERD), and it can eventually lead to more serious health problems including chronic esophagitis, causing pain and trouble swallowing. When gastroesophageal reflux results in persistent vomiting the vocal cords and small airways of the lung can become irritated leading to recurrent pneumonia, and breathing problems which can be mistaken for asthma.
Pediatric patients with gastroesophageal reflux have problems with irritability, poor feeding, slow growth, and respiratory trouble. For children with oesophagal birth defects, gastroesophageal reflux is common and may contribute to the formation of oesophagal narrowing or stricture, which makes swallowing difficult.
Diagnosis of gastroesophageal reflux
If gastroesophageal reflux is suspected, additional tests may be performed to test the severity of the condition:
The type of studies performed depend on your child’s specific symptoms and condition. It is also important to determine if the GER is caused by some other condition, including esophageal or diaphragmatic birth defects.
Treatment of gastroesophageal reflux
Medical non-operative treatment
Initial treatment for GER is usually medical non-operative treatment. In infants, this includes upright positioning and thickened feedings with or without the addition of medicine that helps the stomach empty (Reglan®). Most infants respond to medical treatment and do not require a surgical procedure. H 2-blockers, such as cimetidine or ranitidine, also may improve the success of non-operative therapy. Proton-pump inhibitors (e.g., omeprazole, Prevacid®) have revolutionized medical therapy and are effective agents for the non-operative treatment of this disorder.
Surgical intervention may be considered if medical therapy was unsuccessful or if additional complications occur. With some esophageal birth defects, gastroesophageal reflux is a common problem and surgical intervention is often necessary.
Fundoplication
The goal of a fundoplication is to prevent stomach contents from returning to the esophagus. This operation is accomplished by wrapping the upper portion of the stomach around the lower portion of the esophagus, tightening the outlet of the esophagus as it empties into the stomach. After a fundoplication, food and fluids can pass into the stomach but are prevented from returning to the esophagus and causing symptoms of esophageal reflux. A large skin incision may not be required. In most cases, a fundoplication can be performed by a pediatric surgeon using a small telescope and miniaturized instruments placed through three to four band-aid sized incisions on the abdomen.
Gastroesophageal reflux following repair of esophageal atresia and tracheoesophageal fistula.
OBJECTIVE:
This study represents the experience of a tertiary care center in the Kingdom of Saudi Arabia (KSA) on the long-term effect on the lungs of esophageal atresia (EA) and tracheoesophageal fistula repair (TEF), and to emphasize the magnitude of gastroesophageal reflux (GER) post-EA or post-TEF repair.
METHODS:
A retrospective review of all patients referred to the pulmonary clinic with EA/TEF or re-operative evaluations from the period 1993-2004 at King Faisal Specialist Hospital and Research Centre, Riyadh, KSA.
RESULTS:
Forty-one patients with confirmed EA/TEF (26 males and 15 females) were included in the study. Congenital anomalies were associated in 28 (68%). Gastroesophageal reflux developed in 39 (95%) of patients, 24 (59%) needed Nissen fundoplication. Esophageal stricture that required more than 3 dilations developed in 16 (46%) patients, esophageal dysmotility in 37 (90%) and hiatal hernia in 11 (27%). Pulmonary complications developed in >70% of the patients including persistent atelectasis, chronic aspiration pneumonia, asthma and chronic lung disease that required oxygen for more than one month. Tracheomalacia in 12 (29%) and bronchiectasis in 7 (17%). Eighty-eight percent of patients who were able to do pulmonary function test showed abnormal values of moderate obstructive and restrictive lung disease.
CONCLUSION:
Pulmonary complications cause significant and prolonged morbidities post EA/TEF repair. Gastroesophageal reflux is a common complication after EA/TEF repair and causes significant morbidity that needs a prolonged follow-up. Patients with GER may need Nissen fundal plication to improve respiratory problems.
Heartburn remedy?
An idea to help with Heartburn and GERD?
This was sent to me by a Parent, not everything works for all but this seemed to work for others, when I looked into it, before posting it on here. Plus the feedback from a large TEF support FB group was very positive. I can’t say this will work for you or your child only you will know, but it’s something, if not just an idea from other Parents.
(gastroesophageal reflux disease)
About heartburn causes: I don’t know what caused my episode. The Internet tells me that heartburn is commonly caused by an incompetence of the lower esophageal sphincter (LES), which is a kind of valve that connects the stomach with the esophagus. There is a long list of possible causes of this “incompetence” (eating too much, eating wrong, smoking, hiatus hernia, etc.). About the only thing that I was able to identify with was eating shortly before bedtime, and I have adjusted my habits accordingly. So far this seems to have helped, although I sometimes feel some acidity, which seems to occur when I make long breaks between meals.
First, I started taking Maalox ( a mixture of magnesium hydroxide and aluminum hydroxide) chewable tablets. I also considered Manti, but it is 50% more expensive (in Poland at least) and the only difference is that it also contains simethicone, which helps relieve excess gas. Maalox helped neutralize the acid, providing instant relief, but I found I had to take it at least once every 2 hours. That didn’t look like a good remedy to me.
Some obscure sites recommended eating Jonagold apples for heartburn and GERD (gastroesophageal reflux disease), which is a kind of chronic heartburn. The idea is that apples contain pectin, which neutralizes stomach acid, and Jonagolds have the most pectin. I could find no reputable sources recommending apples as a remedy, but I thought it was worth a try. What I found was that the apples worked well — they actually provided longer-lasting relief than Maalox.
Heartburn remedy: Ground flaxseed, also I am informed it could help with Constipation.
https://blog.szynalski.com/2009/05/14/heartburn-remedy-ground-flaxseed/
Reflux Charity
Supporting Families with Children with Gastro-oesophageal Reflux and Reflux Disease
LEARN MORE
As parents and carers ourselves we know only too well how stressful and exhausting it can be living with a child with reflux (GOR) every day not just for you but for them also. We do understand the battles you face, which is why Living with Reflux charity is here to help and support you.
What is Sandifers Syndrome?
Sandifer’s Syndrome is commonly mistaken as a seizure. Associated with gastro-oesophageal reflux disease (GORD). This syndrome has very few cases reported. It is said to occur in less than 1% of children diagnosed with GORD.
Children diagnosed with Sandifer’s Syndrome will quite often grow out of it by 18-36mths unless the child has a severe mental impairment or similar conditions, in which case the child may continue to have spasms into adolescence. Typically, Sandifer’s Syndrome is not life-threatening.
The spasms may occur shortly after feeding, which can help give a clue to the diagnosis of Sandifer’s Syndrome rather than a seizure.
Signs and symptoms:
The child’s head and neck may rotate to one side and the legs and feet to the other. Commonly the child will arch their back, and stretch out. The child will look stiff and may have periods crying, less commonly they may also go very quiet.
These spasms may last for 1-3 minutes.
http://www.livingwithreflux.org/sandifers-syndrome/
Sandifer syndrome, or Sandifer’s syndrome, is a rare medical condition that most often occurs in infancy or late childhood, with a peak prevalence of around 1 1/2 to 3 years of age. In neurologically impaired children, however, the onset may occur as late as adolescence. This syndrome is characterized by gastrointestinal symptoms, such as gastroesophageal reflux disease (GERD) or hernias, and certain neurological signs.
The neurological features of Sandifer syndrome usually involve spasmodic torticollis, or chronic involuntary movements of the neck in right, left, up or down directions, and dystonia, in which sustained muscle contractions cause twisting and writhing movements and abnormal postures. Although this condition does not have a neurological basis, it is often misdiagnosed as epileptic seizures due to these neurological signs. The spasms associated with this syndrome may last several minutes and can occur frequently throughout the day, although they are often associated with feeding.
A small sample of what Sandifer’s Syndrome can look like. Jadon was 11 weeks old here, some of her episodes are much worse, some much easier. She was diagnosed with Acid Reflux and Sandifer.
A frequent initiating factor of Sandifer syndrome is the dysfunction of the lower oesophagus; however, in some children, a definite cause is never identified. Although the causes of the neurological features of this syndrome are not clearly understood, it is thought that this syndrome may be a defense mechanism developed in some babies to deal with the pain of acid reflux. The head and neck positions associated with this syndrome may give some relief from acid reflux discomfort. Additionally, the twisting movements and the abnormal postures may be an attempt to clear acid from the oesophagus.
Sandifer syndrome, or Sandifer’s syndrome, is a rare medical condition that most often occurs in infancy or late childhood, with a peak prevalence around 1 1/2 to 3 years of age. In neurologically impaired children, however, the onset may occur as late as adolescence. This syndrome is characterized by gastrointestinal symptoms, such as gastroesophageal reflux disease (GERD) or hernias, and certain neurological signs.
The neurological features of Sandifer syndrome usually involve spasmodic torticollis, or chronic involuntary movements of the neck in right, left, up or down directions, and dystonia, in which sustained muscle contractions cause twisting and writhing movements and abnormal postures. Although this condition does not have a neurological basis, it is often misdiagnosed as epileptic seizures due to these neurological signs. The spasms associated with this syndrome may last several minutes and can occur frequently throughout the day, although they are often associated with feeding.
A frequent initiating factor of Sandifer syndrome is the dysfunction of the lower esophagus; however, in some children, a definite cause is never identified. Although the causes of the neurological features of this syndrome are not clearly understood, it is thought that this syndrome may be a defense mechanism developed in some babies to deal with the pain of acid reflux. The head and neck positions associated with this syndrome may give some relief from acid reflux discomfort. Additionally, the twisting movements and the abnormal postures may be an attempt to clear acid from the esophagus.
Diagnosing Sandifer syndrome can often be accomplished simply from the parental reports of symptoms or from a videotape of the child’s abnormal posturing. A pH probe, or pH monitoring, may be used to confirm the presence of acid reflux. Additionally, video EEG monitoring may also be used to rule out the presence of true seizures or other neurological problems.
Once diagnosed, the prognosis for Sandifer syndrome is generally quite good. Treatment almost always involves the treatment of the underlying GERD or a hiatal hernia, which usually results in diminishment of the other symptoms. Lasting effects are rarely reported.
Occasionally, cases of this syndrome may be severe enough that surgery is required. This is usually limited to cases in which gastroesophageal disease has been confirmed and it has started to interfere with the child’s growth and development. In these situations, fundoplication, the standard surgical treatment for GERD, may be necessary to ensure that development progresses normally.
https://www.wisegeek.com/
The operating frequently offered to treat gastroesophageal reflux disease (GERD/GORD).
What Is It?
Gastroesophageal reflux disease (GERD) is commonly called heartburn. This digestive disorder most often causes a burning and sometimes squeezing sensation in the mid-chest.
In GERD, acid and digestive enzymes from the stomach flow backward into the esophagus, the tube that carries food from your mouth to your stomach. This backward flow of stomach juices is called “reflux”. These caustic stomach juices inflame the lining of the esophagus. If GERD is not treated, it can permanently damage the esophagus.
A muscular ring seals the esophagus from the stomach. This ring is called the esophageal sphincter. Normally, the sphincter opens when you swallow, allowing food into your stomach. The rest of the time, it squeezes tight to prevent food and acid in the stomach from backing up into the esophagus.
In most people with GERD, however, the esophageal sphincter does not seal tightly. It remains relaxed between swallows. This allows digestive juices to enter the esophagus and irritate the esophageal lining.
Many things can weaken or loosen the lower esophageal sphincter. These include:
https://www.drugs.com/health-guide/gastroesophageal-reflux-disease-gerd.html
Magnetic Ring Helps Reduce Reflux in Patients With GERD
Wednesday, March 22, 2017
A magnetic device that improved the function of the lower esophageal sphincter helped to reduce patients’ exposure to esophageal acid, improved their symptoms of gastroesophageal reflux disease (GERD), and reduced their reliance on proton-pump inhibitors, according to an industry-funded prospective study.
The patients were fitted with bracelet-like magnetic beads that circled their lower esophageal sphincter and closed, using magnetic attraction, to aid the sphincter in resisting abnormal opening and subsequent reflux. The beads opened with food transport or increased pressure associated with burping or vomiting. Patients’ proton-pump-inhibitor dose, a frequency of use, quality of life, and foregut symptoms were recorded when the study began and 1 week, 3 months, 6 months, and annually after their operations.
http://www.medscape.com/viewarticle/779727
The report from top link adds’s more about this.
http://www.nejm.org/doi/full/10.1056/NEJMoa1205544#t=articleBackground
Laryngomalacia is the most common cause of stridor in newborns, affecting 45–75% of all infants with congenital stridor. The spectrum of disease presentation, progression, and outcomes are varied. Identifying symptoms and patient factors that influence disease severity helps to predict outcomes.
Findings. Infants with stridor who do not have significant feeding-related symptoms can be managed expectantly without intervention. Infants with stridor and feeding-related symptoms benefit from acid suppression treatment. Those with additional symptoms of aspiration, failure to thrive, and consequences of airway obstruction and hypoxia require surgical intervention. The presence of an additional level of airway obstruction worsens symptoms and has a 4.5x risk of requiring surgical intervention, usually supraglottoplasty.
The presence of medical comorbidities predicts worse symptoms. Summary. Most with laryngomalacia will have mild-to-moderate symptoms and not require surgical intervention. Those with gastroesophageal reflux and/or laryngopharyngeal reflux have symptom improvement from acid suppression therapy. Those with severe enough disease to require supraglottoplasty will have minimal complications and good outcomes if multiple medical comorbidities are not present. Identifying patient factors that influence disease severity is an important aspect of care provided to infants with laryngomalacia.
https://www.verywell.com/laryngopharyngeal-reflux-lpr-1742320
http://www.hindawi.com/journals/ijpedi/2012/753526/
There is a FaceBook Group for this
https://www.facebook.com/LoveForMalaciaBabies
Q-A Help
http://www.babycenter.com/400_babies-with-laryngomalacia_13357800_926.bc
What is Vesicoureteral Reflux?
Normally, urine flows one way, down from the kidneys, through tubes called ureters, to the bladder. But what happens when urine flows from the bladder back into the ureters? This is called vesicoureteral reflux. With vesicoureteral reflux, urine flows backward from the bladder, up the ureter to the kidney. It may happen in one or both ureters. When the “flap valve” doesn’t work and lets urine flow backward, bacteria from the bladder can enter the kidney. This may cause a kidney infection that can cause kidney damage. When the flow of urine back up the ureters is more severe, the ureters and kidneys become large and twisted. More severe reflux is tied to a greater risk of kidney damage if there is an infection present.
With photo’s
http://www.urologyhealth.org/urologic-conditions/vesicoureteral-reflux-(vur)
http://emedicine.medscape.com/article/1016439-overview
What are the types of VUR?
The two types of VUR are primary and secondary. Most cases of VUR are primary and typically affect only one ureter and kidney. With primary VUR, a child is born with a ureter that did not grow long enough during the child’s development in the womb. The valve formed by the ureter pressing against the bladder wall does not close properly, so urine refluxes from the bladder to the ureter and eventually to the kidney. This type of VUR can get better or disappear as a child gets older. As a child grows, the ureter gets longer and function of the valve improves.
Secondary VUR occurs when a blockage in the urinary tract causes an increase in pressure and pushes urine back up into the ureters. Children with secondary VUR often have bilateral reflux. VUR caused by a physical defect typically results from an abnormal fold of tissue in the urethra that keeps urine from flowing freely out of the bladder.
VUR is usually classified as grade I through V, with grade, I being the least severe and grade V being the most severe.
With Photo’s
Is Acid Reflux Genetic?
There is abundant evidence showing a link between our genes and acid reflux. Studies in people with acid reflux symptoms and GERD have identified common markers in our DNA associated with acid reflux.
Studies in Twins
One of the best ways to study the link between a particular condition and genetics is to research it in twins. Identical twins share the same DNA. If both twins have a particular disease, there is likely a genetic cause.
One study published in Alimentary Pharmacology & Therapeutics journal found that twins were more likely to both have GERD. The study included 481 identical and 505 fraternal twins. The correlation was stronger in identical twins compared to fraternal twins. This suggests that genetics play a role in causing acid reflux.
An earlier study published in the Gut journal found that one twin was 1.5 times more likely to suffer from GERD if their identical twin had the condition. The study compared heartburn incidence in more than 2,000 sets of identical twins.
Family Studies
If acid reflux is genetic, this means that multiple family members are more likely to have the condition. Research at the University of Amsterdam found a pattern of inheritance of GERD among multi-generational family members. Of the 28 family members who participated in the study, 17 members from four generations were affected with GERD. However, the researchers couldn’t pinpoint the specific gene.
Studies in People with Barrett’s Esophagus
Barrett’s oesophagus is a serious complication of GERD. It is linked to an increased risk of developing oesophagal cancer. Genetics may play an especially important role in Barrett’s oesophagus.
A study reported in the journal Nature Genetics found specific gene variants on chromosomes 6 and 16 were linked to a higher risk of Barrett’s oesophagus. The study found that the closest protein-encoding gene to these variants is FOXF1, which is connected to the development and structure of the oesophagus. A 2013 article in the International Journal of Cancer also reported a link among FOXF1, Barrett’s oesophagus, and oesophagal cancer.
A 2016 study in Nature Genetics found a significant genetic overlap among the following diseases: GERD – Barrett’s oesophagus – oesophagal cancer.
The researchers concluded that GERD has a genetic basis, and they hypothesised that all three diseases are linked to the same gene locus.
Other Studies
Many other studies have shown a link between genetics and GERD. For example, a study published in the American Journal of Gastroenterology found that a specific polymorphism (a variation in DNA) called GNB3 C825T was present in all 363 GERD patients included in the study. The polymorphism wasn’t present in the study’s healthy control population.
Much more to read here.
Surprising mechanism of acid reflux damage identified by UT Southwestern/Dallas VA researchers
Dr Stuart Spechler and Dr Rhonda Sousa, both with UT Southwestern and the Dallas VA Medical Center, co-direct the Esophageal Diseases Center at the Dallas VA Medical Center.
DALLAS – May 17, 2016 – The “acid” in “acid reflux” may not be the direct cause of damage to the esophagus as previously suspected, according to researchers at UT Southwestern Medical Center and Dallas VA Medical Center.
For more than 80 years, it has been assumed that stomach acid backing up into the esophagus damaged the lining of the esophagus by causing chemical burns, but their research suggests that the damage in patients with gastroesophageal reflux disease (GERD) actually occurs through an inflammatory response prompted by the secretion of proteins called cytokines.
“Although this radical change in the concept of how acid reflux damages the esophagus of GERD patients will not change our approach to its treatment with acid-suppressing medications in the near future, it could have substantial long-term implications,” said senior author Dr. Stuart Spechler, Professor of Internal Medicine at UT Southwestern and Chief of the Department of Gastroenterology at the Dallas VA Medical Center.
“Someday we might treat GERD with medications that target the cytokines or inflammatory cells that really cause the damage to the esophagus,” said co-senior author Dr. Rhonda Souza, Professor of Internal Medicine at UT Southwestern and staff physician with the Department of Gastroenterology at the Dallas VA Medical Center.
Dr Spechler and Dr Souza co-direct the Esophageal Diseases Center at the Dallas VA Medical Center, which conducted the research. The research appears online in the Journal of the American Medical Association.
The research builds on previous work in mice demonstrating that it takes several weeks from the time stomach acid is introduced into the esophagus before damage occurs.
“A chemical burn should develop immediately, as it does if you spill battery acid on your hand,” said Dr. Spechler, who holds the Berta M. & Cecil O. Patterson Chair in Gastroenterology.
General Discussion
Cyclic vomiting syndrome (CVS) is a rare disorder characterized by recurrent, similar episodes of severe nausea and vomiting. An episode may last for a few hours to several days and then is followed by a period of time during which affected individuals are free of severe nausea and vomiting. This alternating pattern of disease and disease-free periods distinguishes cyclic vomiting syndrome from other similar disorders. Also, in cyclic vomiting syndrome, within each sufferer the episodes are similar. Associated nausea and vomiting can be severe enough to be incapacitating (e.g., individuals may be unable to walk or talk and/or be bedridden). Additional symptoms that are often present during an episode including dizziness, paleness of the skin (pallor), lack of energy (lethargy), abdominal pain and headaches. Oftentimes, nausea is the most disturbing symptom, and vomiting is infrequent. In some cases, as children grow older, they may outgrow these episodes, although many of these children eventually develop migraines. Cyclic vomiting syndrome may affect children more often than adults. The exact cause of cyclic vomiting syndrome is unknown.
Signs & Symptoms
The hallmark of cyclic vomiting syndrome is recurrent episodes of severe nausea and vomiting. In children, these episodes usually last for several hours to a few days. In adults, episodes tend to occur less frequently but usually last longer sometimes as long as 10 days. These recurrent, characteristic episodes are extremely similar in each individual, often occurring at the same time of day, with the same associated symptoms, severity, and duration as previous episodes. Episodes often occur at night or first thing in the morning. Affected individuals may only experience episodes several times a year or as frequently as several times a month. On occasion after years of cycling, episodes can “coalesce” together with such that there is no symptom-free period.
Causes
Additional factors that may be associated with the development of cyclic vomiting syndrome include dysfunction of the autonomic nervous system. The autonomic nervous system is the portion of the nervous system that controls or regulates certain involuntary body functions including heart rate, blood pressure, sweating, the production and release of certain hormones, and bowel and bladder control. Autonomic disturbances are common during episodes, including fever, tachycardia, high blood pressure and urinary retention (blockage). Vomiting itself is an autonomic disturbance. Autonomic or “functional” disturbances can also occur between episodes, such as reflex sympathetic dystrophy (a chronic pain condition), syncope (fainting), and disorders of gastrointestinal motility. The latter is particularly common, and can include gastroesophageal reflux (GERD, explained below), delayed gastric emptying (resulting in bloating during meals), irritable bowel and/or constipation. Additional conditions sometimes seen in individuals with cyclic vomiting syndrome include depression, anxiety, attention deficit hyperactivity disorder (ADHD), seizures, autistic spectrum disorders and learning disabilities.
Related Disorders
Gastroesophageal reflux (GERD) is a digestive disorder characterized by the passage or flowing back (reflux) of the contents of the stomach or small intestines (duodenum) into the esophagus. The esophagus is the tube that carries food from the mouth to the stomach (esophagus). Symptoms of gastroesophageal reflux may include a sensation of warmth or burning rising up to the neck area (heartburn or pyrosis), swallowing difficulties (dysphagia)
http://rarediseases.org/rare-diseases/cyclic-vomiting-syndrome/
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