Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0014848 (
achalasia
)
2,804
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Osteogenesis imperfecta (OI) is a rare, inherited skeletal disorder characterized by abnormalities of type 1 collagen. Malignancy is rarely reported in patients with OI and it was suggested that this disease can protect against cancer. Here, we report a 41-year-old woman with symptoms of
achalasia
where repeated treatment of pneumatic dilation and stent replacement was unsuccessful; therefore, surgery was performed. Pathology showed gastric adenocarcinoma unexpectedly. Chemotherapy was given after assessing
dihydropyrimidine dehydrogenase
(
DPD
) enzyme activity, which can be deficient in OI patients. This is the first report of gastric cancer mimicking
achalasia
in a patient with OI.
...
PMID:Osteogenesis imperfecta, pseudoachalasia, and gastric cancer. 2587 39
