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)

Xerophthalmia is a common complication of vitamin A deficiency in communities where malnutrition is found. We report on a 16-month-old infant with severe photophobia and failure to thrive. On examination, her major presenting sign was corneal xerosis, with corneal and conjunctival keratinization, and corneal stromal edema with opacification. Based on these findings, vitamin A deficiency secondary to fat malabsorption was suspected, and a workup confirmed the diagnosis of cystic fibrosis. With parenteral vitamin A supplementation, she had complete resolution of her ocular signs and symptoms. This case illustrates the value of a complete ophthalmic examination in the diagnosis of fat malabsorption syndromes.
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PMID:Advanced xerophthalmia as a presenting sign in cystic fibrosis. 274 92

Since the discovery of vitamins, there has been an increasing interest at relating vitamins with particular diseases. In particular, for vitamin A its singular importance has been determined in multiple vital functions, and its relationship with diseases, both in deficit and in excess, is nowadays completely demonstrated. In developed countries, vitamin deficiency-related diseases have been greatly reduced; however, in some patients with particular features they must be kept in mind. This is the case of a 45 year-old man, with a history of chronic alcoholism, non insulin-dependent diabetes meIlitus and cholecystectomy with a high biliary drainage secondary to emphysematous cholecystitis and perivesicular abscess. He complains of bilateral ocular pain, photophobia, and decreased visual acuity besides a history of pasty, sticky and foul-smelling feces. He is admitted in the Ophthalmology Department and bilateral corneal ulceration is diagnosed. A consultation to the Nutrition Department is made because of cachexia. Severe caloric and mil protein hyponutrition is observed with a BMI of 18.2 and a 23% weight loss for the last 6 months, fat-soluble vitamins (A, D and E) deficit, mild fat malabsorption, and macrocytic and hypochromic anemia. The patient's diet is supplemented with a special hyperproteinic and hypercaloric diet for diabetics, deficient vitamins and pancreatic enzymes to improve absorption are administered, and glycemia is controlled with insulin. Four months later, the patient is assessed and has a BMI of 20, anemia has resolved and from an ophthalmologic viewpoint the course is favorable, the ulcers improve and visual acuity is almost completely recovered. In chronic alcoholic patients with a low dietary intake and clinical complications with nutritional repercussions (pancreatitis that produces malabsorption or cholecystectomy with biliary percutaneous drainage) we should not forget that micronutrients deficits may explain the etiology of other associated diseases, in the present case corneal ulceration.
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PMID:[Bilateral corneal ulceration as a result of caloric-protein malnutrition and vitamin A deficit in a patient with chronic alcoholism, chronic pancreatitis and cholecystostomy]. 1604 34

Pellagra is a systemic disturbance caused by a cellular deficiency of niacin, resulting from inadequate dietary nicotinic acid and/or its precursors, the essential amino-acid tryptophan. In Europe and North America cases of pellagra are rarely encountered, but in some developing countries this disease is frequent, and is the most frequent clinical feature of nutritional deficiency of adult. The principal causes of pellagra are: nutritional niacin deficiency; chronic alcoholism; gastro-intestinal malabsorption; some medications (5-fluoro-uracil, isoniazid, pyrazinamide ehtionamide, 6-mercaptopurine, hydantoins, phenobarbital and chloramphenicol). The diagnosis of pellagra is based on the patient's history and the presence of "3 D syndrome": dermatitis, diarrhea, and dementia. The dermatitis caused by pellagra is a bilaterally symmetrical erythema at the sites of solar exposure. The dermatitis begins in the form of an erythema with acute or intermittent onset gradually changing to an exsudative eruption on the dorsa of the hand, face, neck, and chest with pruritus and burning. Acute dermatitis of pellagra resembles sunburn in the first stages, sometimes with vesicles and bullae. The gastro-intestinal disturbances are: anorexia, nausea, epigastric discomfort and chronic or recurrent diarrhea. Anorexia and malabsorbative diarrhea lead to a state of malnutrition and cachexia. Stools are typically watery, but occasionally can be bloody and mucoid. Neuropsychologic manifestation included photophobia, asthenia, depression, hallucinations, confusions, memory loss and psychosis. As pellagra advances, patient become disoriented, confused and delirious; then stuporous and finally die. Pathological changes in the skin is non-specific, there are no chemical tests available to definitively diagnose pellagra. However low levels of urinary excretion of N-methylnicotinamide and pyridone indicates niacin deficiency. The treatment of pellagra consisted to exogenous administration of niacin or nicotinamide cures. Topical management of skin lesions with emollients may reduce discomfort. The therapy should also include other B vitamins, zinc and magnesium as well as a diet rich in calories. The prevention is based in the nutritional education (food sources of niacin: eggs, bran, peanuts, meat, poultry, fish, red meat, legumes and seeds), and the eviction of alcohol.
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PMID:[Pellagra]. 1620 85

Cystic fibrosis - CF - is the most common recessively autosomally and inherited disorder in the Caucasian population. It is incurable, multi-systemic disease with progressive course. CF is caused by CFTR gene mutation, the product of which is Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). CF patients are exposed to fat-soluble vitamins deficiency, including vitamin D. It is due to the fat malabsorption (caused by exacerbation exocrine pancreatic insufficiency), decreased sun exposure (caused by receiving antibiotics photophobia), reduction of adipose tissue and insufficient supply with food. The discovery of vitamin D receptor (VDR) presence outside the skeletal system allowed to conclude, that vitamin D is responsible not only for mineral economy, but also for immunological processes, respiratory status, intestial microflora and cystic fibrosis - related diabetes (CFRD) course. Based on literature data, it is suggested that vitamin D plays an important role in the prevention of diseases coexisting with CF. The right dosage of vitamin D allows to maintain a better lung function and prevent chronic pulmonary infections. It has also been shown that normal levels of vitamin D may be important in increasing the chances of successful lung transplant surgery. Taking the wide spectrum of vitamin D effect into account, it is recommended to maintain serum concentrations above the minimum in patients with CF. In summary, maintaining the proper vitamin D levels in patients with CF is important because of its pleiotropic effect. It can be achieved through regular monitoring of vitamin D levels and individual supplementary dose for each patients.
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PMID:Pleiotropic effect of vitamin D in cystic fibrosis. 3011 Jan 22