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)

In genetically predisposed individuals, celiac disease (CD) is permanent intolerance to gluten. Besides the overt enteropathy, there are clinical and subclinical forms which appear later in life; target organs include liver, thyroid, skin and reproductive systems. CD interference is related to the different concurrent genetic-environmental factors, showing multifactorial nature. CD induces malabsorption with consequent deficiencies of micronutrients essential for organogenesis, spermatogenesis and bone structure, such as vitamin D and calcium. In fact, among extraintestinal manifestations of CD, osteoporosis deserves attention because it can be a sign of silent CD. In celiac patients' serum, cytochinic imbalance related to bone loss is present; in vitro these sera act on the osteoblastic activity. The IL-1b is also present in celiac patients' relatives, confirming the genetic predisposition to its etiopathogenesis which is also regulated by endocrine-environmental factors. In females, CD acts indirectly on the bone, determining early menopause and amenorrhea. Even frequent pregnancies and long periods of lactation can bring to bone loss; in such periods, silent CD can appear, suggesting the presence of endocrine-immunology factors. In celiac males, osteoporosis presence, besides calcium and vitamin D deficiencies, is associated to growth hormone deficit and hypogonadism, which is related to hyperprolactinemia, endocrine factors which affect the reproduction. Osteoporosis is relevant among the elderly and vitamin D and calcium supplementations are important to people diagnosed with CD later in life. Thus, to prevent damages such as osteoporosis, early CD screening among people with reproductive problems is necessary.
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PMID:[Reproduction, endocrine disorders and celiac disease: risk factors of osteoporosis]. 1676 Aug 57

Patients with Crohn's disease are at increased risk of developing disturbances in bone and mineral metabolism because of several factors, including the cytokine-mediated nature of the inflammatory bowel disease, the intestinal malabsorption resulting from disease activity or from extensive intestinal resection and the use of glucucorticoids to control disease activity. Inability to achieve peak bone mass when the disease starts in childhood, malnutrition, immobilization, low BMI, smoking and hypogonadism may also play a contributing role in the pathogenesis of bone loss. The relationship between long-term use of glucocorticoids for any disease indication and increased risk for osteoporosis and fractures is well established. However, the relationship between Crohn's disease and ulcerative colitis and bone loss remains controversial. Depending on the population studied the prevalence of osteoporosis has thus been variably reported to range from 12 to 42% in patients with inflammatory bowel disease (IBD). In IBD most studies demonstrate a negative correlation between bone mineral density (BMD) and glucocorticoid use, but not all authors agree on the relationship between long-term glucocorticoid use and continuing bone loss. Whereas prospective studies do suggest sustained bone loss at both trabecular and cortical sites in long-term glucocorticoid users with inflammatory bowel disease, a decrease in bone mass is also observed in patients with active Crohn's disease not using glucocorticoids, and bone loss is not universally observed in patients with Crohn's disease using orally or rectally administered glucocorticoids. Data on vertebral fractures are scarce and there is no agreement about the risk of non-vertebral fractures in patients with Crohn's disease, although it has been suggested that non-vertebral fracture risk may be increased by up to 60% in patients with IBD. A recent publication reports an increased risk of hip fractures in Crohn's disease related to current and cumulative corticosteroid use and use of opiates, although these fractures could not be related to the severity of osteoporosis. The issue of the magnitude of the problem of osteoporosis has become particularly relevant in Crohn's disease, since the ability of therapeutic interventions to beneficially influence skeletal morbidity has been clearly established in patients with osteoporosis, whether post-menopausal women, men or glucocorticoid users. The main question that arises is whether all patients with Crohn's disease should be treated with bone protective agents on the assumption that they all have the potential to develop osteoporosis or whether the use of these agents should be restricted to patients clearly at risk of osteoporosis and fractures, providing these can be identified. We recommend, based on the available literature and our own experience, that all patients with Crohn's disease should be screened for osteoporosis by means of a bone mineral density measurement in addition to full correction of any potential calcium and vitamin D deficiency, to allow timely therapeutic intervention of the patient at risk while sparing the vast majority unnecessary medical treatment.
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PMID:Skeletal morbidity in inflammatory bowel disease. 1678 23

We describe here a case of a 42-year-old male patient with severe hipogammaglobulinemia primary hypoparathyroidism and hypogonadism, various G1 disorders, malabsorption syndrome, anemia and recurrent severe sinopulmonary infections. We present also difficulties and limitations relating to diagnosis of common variable immunodeficiency and shortly present review of literature.
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PMID:[Primary hypoparathyroidism and hypergonadotropic hypogonadism in a male patient with common variable immunodeficiency. A case report]. 1678 8

Insulin-like growth factor I (IGF-I) is a polypeptide hormone secreted by multiple tissues in response to growth hormone (GH). It is partly responsible for GH activity, and also has glucose-lowering and anabolizing effects. Ninety percent of circulating IGF-I originates in the liver and has autocrine, paracrine, and endocrine effects, the latter on multiple tissues. Liver cirrhosis results in a progressive decline of hepatic IGF-I output, and this factor may become undetectable in advanced disease. Some cirrhosis complications, mainly those nutritional and metabolic in nature (insuline resistance, malnutrition, osteopenia, hypogonadism, intestinal disorders), may be at least partly related to this IGF-I deficiency, since some IGF-I effects represent a reverse image of cirrhosis complications. Despite this, IGF-I replacement therapy has been never suggested for cirrhosis. A number of experimental studies in cirrhotic rats showed that therapy using low-dose recombinant IGF-I exerts two types of effect on experimental cirrhosis: a) liver improvement driven by improved hepatocellular function, portal hypertension, and liver fibrosis; and b) cirrhosis-related extrahepatic disorder improvement driven by improved food efficiency, muscle mass, bone mass, gonadal function and structure, and intestinal function and structure, with a normalization of sugar and amino acid malabsorption, and improved intstinal barrier function, manifested by reduced endotoxemia and bacterial translocation. Subsequently, the first randomized, double-blind, placebo-controlled, pilot clinical trial in a small number of cirrhotic patients showed increased serum albumin and improved energy metabolism as a result of IGF-I use. Further clinical trials are needed to identify adequate IGF-I doses, administration duration and frequency, and the subgroup of cirrhotic patients who will benefit most from this replacement therapy.
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PMID:[Insulin-like growth factor I (IGF-I) and liver cirrhosis]. 1751 29

Prader-Willi syndrome (PWS) is a complex genetic disorder localized to chromosome 15 and is considered the most common genetic cause of the development of life-threatening obesity. Although some morbidities associated with PWS, including respiratory disturbance/hypoventilation, diabetes, and stroke, are commonly seen in obesity, others such as osteoporosis, growth hormone deficiency, and hypogonadism, and also altered pain threshold and inability to vomit, pose unique issues. Various bariatric procedures have been used to cause gastric stasis, decrease gastric volume, and induce malabsorption, with poor results in PWS patients in comparison with normal obese individuals.
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PMID:Critical analysis of bariatric procedures in Prader-Willi syndrome. 1816 38

The availability of osteodensitometry has contributed significantly to increase the awareness of inflammatory bowel disease (IBD)-associated bone disease. Reported osteoporosis prevalence in patients with IBD range from 2% to 30%. The fractures risk varies between studies, influenced by demographic, clinical and genetic factors. The main pathogenetic factors involved are malabsorption, treatment with glucocorticoids, inflammation (increased cytokine production) and hypogonadism. A screening should be considered for all patients with small bowel Crohn's disease and especially for those with extensive disease, multiple resections, and malnutrition. Supplementation with both calcium and vitamin D is frequently the first step taken, but is insufficient to inhibit bone loss in many patients requiring use of glucocorticoids. Among available therapies, only biphosphonates are effective for treatment of glucocorticoid-induced osteoporosis.
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PMID:A 2008 panorama on osteoporosis and inflammatory bowel disease. 1829 97

The negative effect on bone due to the glucocorticoid excess is mediated by the direct action of cortisol in reducing bone apposition and increasing bone resorption, and by indirect mechanisms such as the calcium malabsorption, hypercalciuria and hypogonadism. The condition of overt hypercortisolism, also called Cushing's syndrome, leads to osteoporosis and fractures in up to the 70% of cases, even in the presence of normal gonadal status and in males. The recovery from Cushing's syndrome leads to a normalization of bone mineral density only after several years, even if some data show that the risk of fractures normalizes after one year from the cure. Alendronate has been demonstrated to be useful to accelerate the restoration of normal bone mass after the cure of Cushing's syndrome Several studies, even not all, have been demonstrated that also the condition of asymptomatic or "subclinical" hypercortisolism (often associated to adrenal adenoma) is associated to a reduction of bone mineral density and increased prevalence of fracture even in the presence of eugonadal status and in males. Unfortunately, data regarding the effect of the normalization of cortisol secretion on bone mass and risk of fractures are lacking. On the other hand, it is known that osteoporotic fractures may be the clinical presentation of an otherwise asymptomatic hypercortisolism. In a recent study we have demonstrated that in a population of outpatients with established osteoporosis and without known or clinically evident secondary causes, the prevalence of subclinical hypercortisolism is about 10%. This finding suggests that the presence of subclinical hypercortisolism has to be taken in to account when evaluating patients with unexplainable established osteoporosis.
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PMID:[Role of cortisol hypersecretion in the pathogenesis of osteoporosis]. 1871 63

Zinc is an essential micronutrient for human metabolism that catalyzes more than 100 enzymes, facilitates protein folding, and helps regulate gene expression. Patients with malnutrition, alcoholism, inflammatory bowel disease, and malabsorption syndromes are at an increased risk of zinc deficiency. Symptoms of zinc deficiency are nonspecific, including growth retardation, diarrhea, alopecia, glossitis, nail dystrophy, decreased immunity, and hypogonadism in males. In developing countries, zinc supplementation may be effective for the prevention of upper respiratory infection and diarrhea, and as an adjunct treatment for diarrhea in malnourished children. Zinc in combination with antioxidants may be modestly effective in slowing the progression of intermediate and advanced age-related macular degeneration. Zinc is an effective treatment for Wilson disease. Current data do not support zinc supplementation as effective for upper respiratory infection, wound healing, or human immunodeficiency virus. Zinc is well tolerated at recommended dosages. Adverse effects of long-term high-dose zinc use include suppressed immunity, decreased high-density lipoprotein cholesterol levels, anemia, copper deficiency, and possible genitourinary complications.
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PMID:Zinc: an essential micronutrient. 2014 Oct 96

We report an unusual case of sporadic adult onset cerebellar ataxia with hypogonadism. A 40-year-old unmarried man presented with progressive ataxia and dysarthria along with complaints of non-development of secondary sexual characteristics and erectile dysfunction. There were complaints of intermittent diarrhea. Clinical examination revealed a pan-cerebellar syndrome with features of hypoandrogenism. No eye movement abnormalities were evident. There were signs of malabsorption. Investigations confirmed the presence of auto-antibodies found in celiac disease, and a duodenal biopsy confirmed the same. Hypoandrogenism was postulated to be due to hypergonadotropic hypogonadism which has been mentioned in a few patients of celiac disease. However, the pattern seen in our patient was of a hypogonadotropic hypogonadism. This is probably secondary to an autoimmune hypophysitis seen in some patients in the absence of other clinical manifestations. Autoantibody testing should be a diagnostic necessity in any adult with a sporadic cerebellar ataxia.
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PMID:An unusual cause of adult onset cerebellar ataxia with hypogonadism. 2015 Oct 8

The diagnosis of adrenal insufficiency is discussed in case of low blood pressure and digestive symptoms. Rare inaugural abdomino-crural muscle contracture can be a misleading symptom. Here we report two new cases. A 50-year-old woman presenting a leaning forward walking attitude and negligence for the past 2 months was referred to the neurologic unit. Abdomino-crural contracture, clinical hypogonadism, and hyponatremia directed towards a panhypopituitarism, which was confirmed by subsequent investigations. Pituitary MRI found an empty sella turcica. The outcome was dramatic after hormone replacement therapy, with drawing up of the trunk and re-establishment of walking after a few days. The second case is a 58-year-old man, hospitalized with altered general condition, with a weight loss of 22 kg, and anorexia in the aftermath of a comminuted fracture of the right lower limb, complicated by pseudoarthrosis. There was amyotrophy on the extremities with intense cruralgia. The patient had an antalgic attitude in the flexion affecting his rehabilitation. During 1 year, the symptoms were mimicking psychiatric disorders, malabsorption, or cancer before the final diagnosis of central hypocorticism with normal MRI was established. The evolution was remarkable after a few days of therapy with hydrocortisone, where the myalgia disappeared, the patient quickly gained weight, and the disappearance of the retractions allowed rehabilitation. These two observations emphasize the delayed diagnosis of adrenal insufficiency in the case of abdomino-crural-related symptoms and the presence of misleading neurological symptoms. The mechanisms of this syndrome remain unknown.
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PMID:Flexion contractures possibly reflect the existence of hypocortisolism: two case reports. 2015 22


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