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)

Osteomalacia is caused by impaired vitamin D receptor (VDR) signaling, calcium deficiency, and altered bone mineralization. This can be due to insufficient sunlight exposure, malabsorption, reduced D hormone activation in chronic kidney disease, and rare alterations of VDR signaling and phosphate metabolism. Leading symptoms are bone pain, muscular cramps, and increased incidence of falls in the elderly. The adequate respective countermeasures are to optimize the daily intake of calcium and vitamin D3 and to replace active D hormone and phosphate if deficient. Osteoporosis is characterized by bone fragility fractures upon minor physical impact. Indications for diagnosis and treatment can be established by estimating the absolute fracture risk, taking into account bone mineral density, age, gender, and individual risk factors. Exercise, intervention programs to avoid falls, and specific drugs are capable of substantially reducing fracture risk even in the elderly. Secondary osteoporosis primarily requires both bone-altering medications and effective treatment of underlying diseases.
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PMID:[Metabolic bone diseases]. 1788 94

Osteomalacia (OM) is a condition that usually is overlooked and neglected when compared with other metabolic bone disease such as osteoporosis. Presenting with a wide spectrum of nonspecific clinical, radiographic, and biochemical manifestations, OM is a treatable metabolic disease that is precisely diagnosed by anterior iliac crest bone biopsy. Clinical clues to lead one to suspect OM in the context of a diffuse bone disease include the presence of generalized bone pain affecting mainly shoulders, hips and rib cage, proximal muscle weakness, low serum calcium x phosphorus product, increased serum alkaline phosphatase, low calcium in the 24-h urine test, and low serum 25 hydroxyvitamin D. Radiographic examination may show a characteristic "erased" or "fuzzy" type of demineralization, pseudofractures, or bone deformities. OM is confined usually to elderly individuals or to those patients with intestinal malabsorption and hypophosphatemia.
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PMID:Musculoskeletal manifestations of osteomalacia. 1907 64

Osteomalacia is an end-stage bone disease of chronic and severe vitamin D or phosphate depletion of any cause. Its importance has increased because of the rising incidence of vitamin D deficiency. Yet, not all cases of osteomalacia are cured by vitamin D replacement, and furthermore, not all individuals with vitamin D deficiency develop osteomalacia. Although in the past osteomalacia was commonly caused by malabsorption, nutritional deficiency now is more common. In addition, recent literature suggests that nutritional vitamin D deficiency osteomalacia follows various bariatric surgeries for morbid obesity. Bone pain, tenderness, muscle weakness, and difficulty walking are all common clinical manifestations of osteomalacia. Diagnostic work-up involves biochemical assessment of vitamin D status and may also include a transiliac bone biopsy. Treatment is based on aggressive vitamin D repletion in most cases with follow-up biopsies if patients are started on antiresorptive or anabolic agents.
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PMID:Osteomalacia as a result of vitamin D deficiency. 2252 44

Osteomalacia is an end-stage bone disease of chronic and severe vitamin D or phosphate depletion of any cause. Its importance has increased because of the rising incidence of vitamin D deficiency. Yet, not all cases of osteomalacia are cured by vitamin D replacement, and furthermore, not all individuals with vitamin D deficiency develop osteomalacia. Although in the past osteomalacia was commonly caused by malabsorption, nutritional deficiency now is more common. In addition, recent literature suggests that nutritional vitamin D deficiency osteomalacia follows various bariatric surgeries for morbid obesity. Bone pain, tenderness, muscle weakness, and difficulty walking are all common clinical manifestations of osteomalacia. Diagnostic work-up involves biochemical assessment of vitamin D status and may also include a transiliac bone biopsy. Treatment is based on aggressive vitamin D repletion in most cases with follow-up biopsies if patients are started on antiresorptive or anabolic agents.
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PMID:Osteomalacia as a result of vitamin D deficiency. 2051 Oct 54

Celiac disease (CD) is a chronic digestive disease that results in hypersensitivity to the gliadin fraction of Gluten. Malabsorption syndrome may be responsible for weight loss, diarrhea, osteomalacia, and vitamins deficiency. Herein we report a patient with coeliac disease (CD) who presented with osteomalacia and psoriasis without classical symptoms of CD. A 25-year-old North African Tunisian white woman was admitted to the hospital because of a 1-year history of bone pain, weight loss and weakness. She had cutaneous psoriasis on dermatologic examination. She had also anemia, hypocalcemia and pathological fracture. She was diagnosed to have osteomalacia on the basis of clinical, biological and radiological findings. Further investigations revealed the presence of antiglutaminase antibodies, and histopathologic findings of the duodenal biopsy were consistent with celiac disease. The patient showed a fast response to gluten-free diet, and full recovery with calcium and vitamin D replacement. Coeliac disease is frequently misdiagnosed leading to major complications such as osteolamacia. In the other hand, osteomalacia can still be the presenting feature of undiagnosed celiac disease. Association between osteomalacia and cutaneous psoriasis is rarely reported.
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PMID:Osteomalacia associated with cutaneous psoriasis as the presenting feature of coeliac disease: a case report. 2259 94

Secondary osteoporosis is increasingly observed in both adult and pediatric patients affected by many heterogeneous diseases. Most forms of secondary osteoporosis derive from one or more of the following causes: malnutrition, malabsorption, immobilization and/or reduced mechanical load, vitamin D deficiency, chronic inflammation, hormonal derangements, and chronic use of glucocorticoids and other drugs. Considering the lack of symptoms in the early phases, both the risk and the presence of secondary osteoporosis tend to be underestimated, and as a consequence, appropriate prevention/treatment measures are often delayed or not taken at all. Failure to accumulate an appropriate bone mass for gender and age or to build an architecturally "strong" bone must always be suspected when a child or adolescent presents with frequent and/or low-trauma fractures, chronic bone pain, or an incidental finding of "osteopenia" on plain X-rays. Known risk factors must always be considered.
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PMID:Causes of secondary pediatric osteoporosis. 2385 26

Osteomalacia is a rare disorder of bone metabolism leading to reduced bone mineralization. Underlying vitamin D deficiency and a disturbed phosphate metabolism (so-called hypophosphatemic osteomalacia) can cause the disease. Leading symptoms are dull localized or generalized bone pain, muscle weakness and cramps as well as increased incidence of falls. Rheumatic diseases, such as polymyalgia rheumatica, rheumatoid arthritis, myositis and fibromyalgia must be considered in the differential diagnosis. Alkaline phosphatase (AP) is typically elevated in osteomalacia while serum phosphate and/or 25-OH vitamin D3 levels are reduced. The diagnosis of osteomalacia can be confirmed by an iliac crest bone biopsy. Histological correlate is reduced or deficient mineralization of the newly synthesized extracellular matrix. Treatment strategies comprise supplementation of vitamin D and calcium and for patients with intestinal malabsorption syndromes vitamin D and calcium are also given parenterally. In renal phosphate wasting syndromes substitution of phosphate is the treatment of choice, except for tumor-induced osteomalacia when removal of the tumor leads to a cure in most cases.
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PMID:[Metabolic bone disease osteomalacia]. 2481 56

Scurvy is one of the oldest diseases in human history. Nowadays, although scurvy tends to become a forgotten disease in developed country, rare cases still occur, especially in people undergoing extreme diet, old people or children with poor diet and patients with malabsorption. We describe three cases of scurvy. The first case is a patient diagnosed with Crohn's disease, the second one is in a context of anorexia nervosa and drug addiction, and the third case is in a context of social isolation. Early recognition of scurvy can be difficult because symptoms may appear nonspecific and can mimic more common conditions. In any patient with spontaneous hematoma and purpura, in the context of nutritional disorder, scurvy should be systematically considered. As this disease can lead to severe complications, such as bone pain, heart failure or gastrointestinal symptoms, nothing should delay vitamin C supplementation, which is a simple and rapidly effective treatment.
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PMID:Severe scurvy: an underestimated disease. 2608 92

We present a case of an otherwise healthy 3-year-old child who presented with limping, bone pain, fatigue, and agitation. Differential diagnosis included an infection of the bone, malignancy, an inflammatory bone disease, and metabolic bone disease. Magnetic resonance imaging of the lower limbs and the spine was consistent with scurvy, and the diagnosis was confirmed by very low levels of vitamin C. Further history taking revealed a diet based entirely on dairy pudding, with no fruits or vegetables, and being a "picky eater" was the sole reason. Intravenous treatment with vitamin C led to full recovery. Previous reports of scurvy were in patients with other medical conditions, such as malabsorption, or behavioral conditions as in autism. This case demonstrates that scurvy, an almost forgotten condition from past centuries, can occur in otherwise healthy children and should raise awareness regarding the importance of a balanced diet and proper nutritional history taking. Following growth charts as the only screening tool for balanced and inclusive nutrition may not be sufficient.
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PMID:"What can you C in a limping child?" Scurvy in an otherwise healthy "picky eater". 3310 52


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