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 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

Vitamin D deficiency is common among Indian population. Women are especially at risk for severe vitamin D deficiency. The risk is higher for those who are multiparous and postmenopausal. Poor exposure to sunlight, higher latitude, winter season, inadequate diet, older age, obesity and malabsorption are also important risk factors. Symptoms of hypovitaminosis D, including diffuse or migratory pain affecting several sites (especially the shoulder, pelvis, ribcage and lower back) have also been misdiagnosed as musculoskeletal disorders, including fibromyalgia, polymyalgia rheumatica and ankylosing spondylitis. Here, we report two cases presented with kyphoscoliosis, diagnosed to have severe vitamin D deficiency.
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PMID:Severe Vitamin D Deficiency Causing Kyphoscoliosis. 2666 47

A 64-year-old woman presented with heavy diarrhoea, nausea and weight loss accompanied by alopecia and dystrophic fingernails and toenails. The preceding diagnosis of an inflammatory bowel disease, a common pitfall, was excluded by endoscopic work up. Instead, Cronkhite-Canada syndrome (CCS), a rare polyposis condition, was identified as the reason for this almost pathognomonic combination of diagnostic findings including various polyps throughout the entire intestine and ectodermal abnormalities. This case exemplifies common risks and complications in terms of gastrointestinal malabsorption, infections and small intestinal bacterial overgrowth (SIBO), including its treatment as well as a hereto unreported association with polymyalgia rheumatica. In CCS, long-term immunosuppressive therapy and close endoscopic cancer screening of the patient is essential. The treatment of vitamin deficiency and recurring SIBO helps to reduce symptoms.
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PMID:Difficult case of Cronkhite-Canada syndrome with small intestinal bacterial overgrowth, Clostridium difficile infection and polymyalgia rheumatica. 2681 13