Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Osteoporosis in children is rare and mostly secondary to such conditions as prolonged immobilization, malabsorption syndromes, corticosteroid excess, osteogenesis imperfecta, celiac disease, Turner syndrome, and malignancy. Idiopathic juvenile osteoporosis (IJO) is a very rare condition of primary bone demineralization that presents in childhood. IJO, a disease of unknown etiology, manifests typically by pain, bone deformities, and fractures. Diagnosis of IJO was made by excluding other common causes of osteoporosis in this age. Bisphosphonates, calcitriol, fluoride, and calcitonin have been administered therapeutically, but the results were equivocal. Usually the disease remits by itself. Patient that has serious osteoporosis and high thyroid stimulating hormone level was diagnosed as IJO by eliminating secondary reasons. We report this case, whose symptoms were disappeared after parenteral pamidronat treatment, and he was reexamined owing to anemia and trombositopenia, and diagnosed as B-cell acute lymphoblastic leukemia, just to emphasis the importance of close follow-ups of IJO patients.
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PMID:Severe osteoporosis and high level TSH in a child before the diagnosis of acute lymphoblastic leukemia. 1963 64

Celiac disease is an immune-mediated enteropathy affecting 0.5% to 1% of children and is induced by dietary gluten in susceptible individuals carrying the human leukocyte antigen DQ2 or DQ8 heterodimer. If serological screening is positive or if a patient displays suggestive symptoms, an endoscopic biopsy of the distal duodenum is required to confirm the diagnosis. Symptoms of celiac disease are often mild or absent. Overt malabsorption occurs in only 2% to 10% of children. Individuals with a higher risk of developing celiac disease, including first-degree relatives of affected patients and children with type I diabetes, Turner syndrome, Williams syndrome or Down syndrome, should be offered screening for celiac disease along with a discussion of the implications. If serological testing is negative, a high index of suspicion should remain if malabsorption, iron deficiency or osteopenia is present. Also, immunoglobulin A deficiency should be excluded. At-risk individuals should undergo serial serological screening. Lifelong adherence to a gluten-free diet is the only treatment. If left untreated, symptomatic children with celiac disease carry an increased risk of developing osteoporosis and have a greater lifetime risk of cancer. The long-term outcome of undiagnosed or untreated asymptomatic individuals is less clear.
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PMID:Practical considerations for the identification and follow-up of children with celiac disease. 1968 81