Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0017168 (gastroesophageal reflux disease)
 11,783 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Severe magnesium deficiency associated with proton pump inhibitors (PPIs) has been described recently with clinical presentations varying from life-threatening conditions to muscle cramps and paresthesias. Probably milder cases go undetected. We report an asymptomatic case of hypomagnesemia associated with chronic use of PPIs in a 67-year-old woman. She had had symptoms of gastroesophageal reflux disease for several years, which abated partially with PPIs, and denied any other symptoms or medications. Her initial evaluation showed an unexplained hypomagnesemia with a very low magnesium excretion rate in urine. Serum calcium, phosphorus, potassium, and glucose levels and renal function were normal. After PPI withdrawal, serum and urinary magnesium levels normalized.
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PMID:Hypomagnesemia and proton pump inhibitors: below the tip of the iceberg. 2155 54

The most common causes of chronic cough in nonsmokers are postnasal drip syndrome, asthma, and gastroesophageal reflux disease. Drugs are also important in the etiology of resistant cough. Most common drugs inducing cough are the ACE inhibitors. Many drugs other than ACE inhibitors can also cause dry cough and one among them is topiramate. It is a new generation, efficacy-proved antiepileptic drug that is used widely for migraine prophylaxis in many countries. Most common adverse events of topiramate are paresthesia, cognitive symptoms, fatigue, insomnia, nausea, loss of apetite, anxiety, and dizziness. There is only one case report about topiramate associated cough in the literature. The present report refers to a patient, presenting with cough who is on topiramate treatment for migraine prophylaxis.
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PMID:As a rare cause of drug-induced cough: topiramate. 2242 60

Proton pump inhibitors (PPI) are widely used in patients with systemic sclerosis (SSc) due to the chronic gastroesophageal reflux. The authors report a female patient with a 9-year history of SSc and long-term use of omeprazole, who complained of paresthesia and asthenia for 12 months. Physical examination revealed clinical signs of hypocalcaemia confirmed by laboratory tests that also showed hypomagnesaemia. After exclusion of possible causes, hypomagnesaemia secondary to PPI was diagnosed and omeprazole was replaced by a histamine H2-receptor antagonist: ranitidine. Despite continuous magnesium supplementation, the reintroduction of PPI at a lower dose due to worsening of dyspeptic symptoms led to recurrence of hypomagnesaemia. After definitive suspension of PPI, reintroduction of ranitidine and optimisation of anti-reflux environmental measures, the patient stabilised. In conclusion, SSc patients using PPIs should have their magnesium and calcium serum levels measured periodically, and non-specific symptoms such as asthenia, generalised paresthesia or life-threatening manifestations (seizures, arrhythmias) should not be neglected.
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PMID:Hypomagnesaemia and hypocalcaemia in a patient with systemic sclerosis: role of proton pump inhibitors. 2506 21

Cramp-fasciculation syndrome (CFS) is a rare muscle hyperexcitability syndrome that presents with muscle cramps, fasciculations, and stiffness, as well as pain, fatigue, anxiety, hyperreflexia, and paresthesias. Although familial cases have been reported, a genetic etiology has not yet been identified. We performed whole-exome sequencing followed by validation and cosegregation analyses on a father-son pair with CFS. Both subjects manifested other hypersensitivity-hyperexcitability symptoms, including asthma, gastroesophageal reflux, migraine, restless legs syndrome, tremor, cold hyperalgesia, and cardiac conduction defects. Most symptoms improved with carbamazepine, consistent with an underlying cation channelopathy. We identified a variant in the transient receptor potential ankyrin A1 channel (TRPA1) gene that selectively cosegregated with CFS and the other hypersensitivity-hyperexcitability symptoms. This variant (c.2755C>T) resulted in a premature stop codon at amino acid 919 (p.Arg919*) in the outer pore of the channel. TRPA1 is a widely distributed, promiscuous plasmalemmal cation channel that is strongly implicated in the pathophysiology of the specific hypersensitivity-hyperexcitability symptoms observed in these subjects. Thus, we have identified a novel TRPA1 variant that is associated with CFS as part of a generalized hypersensitivity-hyperexcitability disorder. These findings clarify the diverse functional roles of TRPA1, and underscore the importance of this channel as a potential therapeutic target.
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PMID:A novel TRPA1 variant is associated with carbamazepine-responsive cramp-fasciculation syndrome. 2843 34